Incidental Mutation 'R1840:Agrn'
| ID |
205687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
Agrin, NMF380, nmf380 |
| MMRRC Submission |
039866-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R1840 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156249747-156281945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 156251872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1797
(R1797C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071248
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1139 |
5.57e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105574
AA Change: R1797C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: R1797C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1678 |
6.51e-36 |
SMART |
|
EGF
|
1699 |
1735 |
4.35e-6 |
SMART |
|
LamG
|
1771 |
1907 |
5.01e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105575
AA Change: R1820C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: R1820C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1682 |
9.2e-36 |
SMART |
|
EGF
|
1703 |
1739 |
4.35e-6 |
SMART |
|
LamG
|
1794 |
1930 |
5.01e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154494
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180572
AA Change: R1904C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: R1904C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:NtA
|
32 |
159 |
5.1e-91 |
PFAM |
|
FOLN
|
173 |
198 |
8.25e-6 |
SMART |
|
KAZAL
|
198 |
244 |
1.22e-17 |
SMART |
|
FOLN
|
249 |
273 |
7.58e-5 |
SMART |
|
EGF_like
|
249 |
288 |
7.38e1 |
SMART |
|
KAZAL
|
273 |
319 |
1.51e-13 |
SMART |
|
KAZAL
|
348 |
391 |
1.8e-6 |
SMART |
|
KAZAL
|
417 |
463 |
1.55e-10 |
SMART |
|
FOLN
|
469 |
491 |
8.25e-6 |
SMART |
|
KAZAL
|
491 |
536 |
1.14e-17 |
SMART |
|
KAZAL
|
556 |
601 |
6.43e-17 |
SMART |
|
FOLN
|
603 |
626 |
2.94e-2 |
SMART |
|
KAZAL
|
614 |
666 |
8.96e-16 |
SMART |
|
low complexity region
|
672 |
679 |
N/A |
INTRINSIC |
|
KAZAL
|
706 |
752 |
1.12e-16 |
SMART |
|
EGF_Lam
|
795 |
846 |
3.29e-15 |
SMART |
|
EGF_Lam
|
849 |
893 |
6.7e-7 |
SMART |
|
FOLN
|
902 |
924 |
1.94e-2 |
SMART |
|
KAZAL
|
924 |
971 |
3.9e-16 |
SMART |
|
low complexity region
|
996 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1085 |
N/A |
INTRINSIC |
|
SEA
|
1121 |
1243 |
2.26e-35 |
SMART |
|
low complexity region
|
1249 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
|
EGF
|
1321 |
1356 |
1.49e-4 |
SMART |
|
LamG
|
1381 |
1517 |
4e-45 |
SMART |
|
EGF
|
1541 |
1575 |
2.23e-3 |
SMART |
|
EGF
|
1580 |
1614 |
7.13e-2 |
SMART |
|
LamG
|
1649 |
1785 |
6.51e-36 |
SMART |
|
EGF
|
1806 |
1842 |
4.35e-6 |
SMART |
|
LamG
|
1878 |
2014 |
5.01e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181062
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(4) Targeted, other(1) Gene trapped(7) |
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
A |
16: 21,472,236 (GRCm39) |
M85L |
probably benign |
Het |
| Aatk |
T |
G |
11: 119,904,558 (GRCm39) |
D206A |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,705,229 (GRCm39) |
D719G |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,566,257 (GRCm39) |
M734K |
probably benign |
Het |
| Asph |
T |
A |
4: 9,601,340 (GRCm39) |
M136L |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,858,791 (GRCm39) |
H1158R |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,421,032 (GRCm39) |
|
probably null |
Het |
| BC024139 |
G |
T |
15: 76,004,842 (GRCm39) |
S611R |
probably benign |
Het |
| Becn1 |
C |
T |
11: 101,186,392 (GRCm39) |
G105S |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,197,706 (GRCm39) |
E70G |
probably damaging |
Het |
| Cacul1 |
A |
T |
19: 60,522,688 (GRCm39) |
L282* |
probably null |
Het |
| Catspere2 |
A |
G |
1: 177,830,581 (GRCm39) |
D30G |
possibly damaging |
Het |
| Ccar1 |
T |
A |
10: 62,599,289 (GRCm39) |
K614M |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,455 (GRCm39) |
T189A |
probably benign |
Het |
| Cdh5 |
C |
A |
8: 104,853,248 (GRCm39) |
Y189* |
probably null |
Het |
| Chka |
A |
G |
19: 3,936,460 (GRCm39) |
N284S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,751,441 (GRCm39) |
I366F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,470,560 (GRCm39) |
G3372E |
probably damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,761,980 (GRCm39) |
|
probably null |
Het |
| Dcaf6 |
A |
G |
1: 165,227,317 (GRCm39) |
V270A |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,422,587 (GRCm39) |
I608N |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,725,024 (GRCm39) |
C1849* |
probably null |
Het |
| Eci3 |
C |
A |
13: 35,144,024 (GRCm39) |
V34L |
probably benign |
Het |
| Eif1ad9 |
T |
C |
12: 88,296,181 (GRCm39) |
V53A |
probably benign |
Het |
| Entrep2 |
C |
A |
7: 64,408,943 (GRCm39) |
V484L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,340,522 (GRCm39) |
R583H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,971,455 (GRCm39) |
N720K |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,299,728 (GRCm39) |
R346* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,353,128 (GRCm39) |
T699I |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,995 (GRCm39) |
V427A |
possibly damaging |
Het |
| Frey1 |
T |
C |
2: 92,213,554 (GRCm39) |
S36P |
probably benign |
Het |
| Fzd9 |
T |
A |
5: 135,278,425 (GRCm39) |
T487S |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,258,113 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Gm10269 |
T |
C |
18: 20,815,866 (GRCm39) |
K52R |
probably damaging |
Het |
| Gm8674 |
A |
T |
13: 50,055,801 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
| Gramd4 |
T |
C |
15: 86,014,393 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,500 (GRCm39) |
L403P |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,066,507 (GRCm39) |
D626E |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,635,091 (GRCm39) |
L769* |
probably null |
Het |
| Hes5 |
A |
G |
4: 155,045,711 (GRCm39) |
K58R |
probably damaging |
Het |
| Heyl |
A |
G |
4: 123,135,183 (GRCm39) |
I59V |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,012,393 (GRCm39) |
F48L |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,754,337 (GRCm39) |
R583Q |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,817,191 (GRCm39) |
I390F |
probably damaging |
Het |
| Kat5 |
C |
T |
19: 5,659,266 (GRCm39) |
V95M |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,636,167 (GRCm39) |
I827F |
possibly damaging |
Het |
| Kif1b |
C |
T |
4: 149,272,589 (GRCm39) |
R138Q |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lats1 |
T |
A |
10: 7,586,703 (GRCm39) |
L955* |
probably null |
Het |
| Ldlrad2 |
A |
C |
4: 137,299,495 (GRCm39) |
C110G |
possibly damaging |
Het |
| Lgi3 |
G |
A |
14: 70,772,216 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
A |
G |
9: 56,527,842 (GRCm39) |
M249T |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,849,258 (GRCm39) |
R993* |
probably null |
Het |
| Lsm14b |
T |
A |
2: 179,668,521 (GRCm39) |
I74N |
probably damaging |
Het |
| Lyplal1 |
T |
A |
1: 185,832,414 (GRCm39) |
I114F |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,092,048 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,313 (GRCm39) |
E816G |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,157,017 (GRCm39) |
N151S |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,332,594 (GRCm39) |
E1082V |
possibly damaging |
Het |
| Nrg4 |
A |
C |
9: 55,189,890 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,777,498 (GRCm39) |
L101P |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,639 (GRCm39) |
D52V |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
| Or4p19 |
T |
C |
2: 88,242,411 (GRCm39) |
D197G |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,324 (GRCm39) |
I281V |
probably benign |
Het |
| Or5ak22 |
G |
A |
2: 85,230,512 (GRCm39) |
R122C |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,683,819 (GRCm39) |
E169V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,552,256 (GRCm39) |
N130Y |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,552,170 (GRCm39) |
R101H |
probably damaging |
Het |
| Plscr1 |
A |
T |
9: 92,140,127 (GRCm39) |
S5C |
unknown |
Het |
| Plxdc2 |
T |
C |
2: 16,674,667 (GRCm39) |
V338A |
probably benign |
Het |
| Psg23 |
T |
A |
7: 18,344,363 (GRCm39) |
N364I |
possibly damaging |
Het |
| Psmg4 |
A |
G |
13: 34,362,039 (GRCm39) |
E109G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,082,733 (GRCm39) |
E908G |
probably damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,519,048 (GRCm39) |
R26H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,314,588 (GRCm39) |
N1769K |
probably benign |
Het |
| Rbm14 |
C |
T |
19: 4,851,823 (GRCm39) |
|
probably benign |
Het |
| Rgs7 |
A |
T |
1: 174,980,714 (GRCm39) |
D103E |
probably damaging |
Het |
| Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
| Rock2 |
T |
A |
12: 16,978,990 (GRCm39) |
D93E |
probably benign |
Het |
| Rps6ka6 |
A |
G |
X: 110,330,629 (GRCm39) |
I246T |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,646,542 (GRCm39) |
M803V |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,581,165 (GRCm39) |
Y2889C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,182 (GRCm39) |
N671S |
probably damaging |
Het |
| Selplg |
T |
C |
5: 113,957,905 (GRCm39) |
T134A |
possibly damaging |
Het |
| Sez6 |
C |
A |
11: 77,844,543 (GRCm39) |
T122N |
possibly damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,063,229 (GRCm39) |
D4E |
unknown |
Het |
| Smim18 |
A |
G |
8: 34,232,376 (GRCm39) |
M81T |
probably benign |
Het |
| Snap91 |
A |
T |
9: 86,697,518 (GRCm39) |
H281Q |
probably damaging |
Het |
| Sparc |
C |
A |
11: 55,286,692 (GRCm39) |
C302F |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,932,237 (GRCm39) |
L535P |
probably damaging |
Het |
| Spsb1 |
G |
A |
4: 149,991,088 (GRCm39) |
T160I |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,047,813 (GRCm39) |
N128S |
probably benign |
Het |
| Strc |
T |
C |
2: 121,209,777 (GRCm39) |
E182G |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 13,988,754 (GRCm39) |
M2T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,118,352 (GRCm39) |
N499S |
probably benign |
Het |
| Szt2 |
A |
T |
4: 118,222,854 (GRCm39) |
|
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,636,972 (GRCm39) |
S372T |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,440,463 (GRCm39) |
S289T |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,830,744 (GRCm39) |
E259G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,330,973 (GRCm39) |
I1390L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,249,325 (GRCm39) |
R921W |
probably damaging |
Het |
| Tmem126a |
C |
A |
7: 90,102,092 (GRCm39) |
G36* |
probably null |
Het |
| Tmem245 |
C |
T |
4: 56,903,947 (GRCm39) |
V606I |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,843,631 (GRCm39) |
D1665G |
probably benign |
Het |
| Ubac2 |
T |
G |
14: 122,231,674 (GRCm39) |
V200G |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,981,161 (GRCm39) |
A2372V |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,219,517 (GRCm39) |
P285S |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,522 (GRCm39) |
V199A |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,406 (GRCm39) |
K369* |
probably null |
Het |
| Xpnpep3 |
G |
T |
15: 81,311,554 (GRCm39) |
A87S |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
| Zdhhc11 |
A |
G |
13: 74,122,771 (GRCm39) |
N169S |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,107,215 (GRCm39) |
D435E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,648,033 (GRCm39) |
D1007G |
possibly damaging |
Het |
|
| Other mutations in Agrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Agrn
|
APN |
4 |
156,255,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL00811:Agrn
|
APN |
4 |
156,253,231 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01066:Agrn
|
APN |
4 |
156,261,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01412:Agrn
|
APN |
4 |
156,255,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL01414:Agrn
|
APN |
4 |
156,279,696 (GRCm39) |
splice site |
probably null |
|
|
IGL02075:Agrn
|
APN |
4 |
156,254,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02609:Agrn
|
APN |
4 |
156,259,680 (GRCm39) |
splice site |
probably benign |
|
|
IGL02669:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02671:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02672:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02674:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Agrn
|
APN |
4 |
156,257,264 (GRCm39) |
nonsense |
probably null |
|
|
IGL02804:Agrn
|
APN |
4 |
156,258,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02986:Agrn
|
APN |
4 |
156,263,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03160:Agrn
|
APN |
4 |
156,254,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB004:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F6893:Agrn
|
UTSW |
4 |
156,258,636 (GRCm39) |
missense |
probably benign |
|
|
R0092:Agrn
|
UTSW |
4 |
156,263,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Agrn
|
UTSW |
4 |
156,258,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0531:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0536:Agrn
|
UTSW |
4 |
156,264,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0690:Agrn
|
UTSW |
4 |
156,258,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Agrn
|
UTSW |
4 |
156,251,394 (GRCm39) |
nonsense |
probably null |
|
|
R1079:Agrn
|
UTSW |
4 |
156,261,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Agrn
|
UTSW |
4 |
156,256,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1222:Agrn
|
UTSW |
4 |
156,261,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534:Agrn
|
UTSW |
4 |
156,261,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Agrn
|
UTSW |
4 |
156,263,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1625:Agrn
|
UTSW |
4 |
156,257,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Agrn
|
UTSW |
4 |
156,251,015 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1717:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1718:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1721:Agrn
|
UTSW |
4 |
156,259,630 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Agrn
|
UTSW |
4 |
156,261,284 (GRCm39) |
nonsense |
probably null |
|
|
R1865:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R2105:Agrn
|
UTSW |
4 |
156,261,756 (GRCm39) |
nonsense |
probably null |
|
|
R2265:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2266:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2269:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2382:Agrn
|
UTSW |
4 |
156,260,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2497:Agrn
|
UTSW |
4 |
156,258,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2509:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2510:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2511:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2994:Agrn
|
UTSW |
4 |
156,251,785 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3824:Agrn
|
UTSW |
4 |
156,253,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Agrn
|
UTSW |
4 |
156,256,858 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4755:Agrn
|
UTSW |
4 |
156,257,979 (GRCm39) |
intron |
probably benign |
|
|
R4853:Agrn
|
UTSW |
4 |
156,270,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4878:Agrn
|
UTSW |
4 |
156,255,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Agrn
|
UTSW |
4 |
156,270,010 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5228:Agrn
|
UTSW |
4 |
156,251,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Agrn
|
UTSW |
4 |
156,263,315 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5269:Agrn
|
UTSW |
4 |
156,253,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5282:Agrn
|
UTSW |
4 |
156,257,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Agrn
|
UTSW |
4 |
156,251,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5560:Agrn
|
UTSW |
4 |
156,262,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Agrn
|
UTSW |
4 |
156,251,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5725:Agrn
|
UTSW |
4 |
156,258,332 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5967:Agrn
|
UTSW |
4 |
156,259,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Agrn
|
UTSW |
4 |
156,258,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6338:Agrn
|
UTSW |
4 |
156,255,042 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6351:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6437:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6490:Agrn
|
UTSW |
4 |
156,251,819 (GRCm39) |
nonsense |
probably null |
|
|
R6909:Agrn
|
UTSW |
4 |
156,261,464 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7110:Agrn
|
UTSW |
4 |
156,263,332 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7123:Agrn
|
UTSW |
4 |
156,257,297 (GRCm39) |
missense |
probably benign |
|
|
R7163:Agrn
|
UTSW |
4 |
156,262,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Agrn
|
UTSW |
4 |
156,256,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7251:Agrn
|
UTSW |
4 |
156,259,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Agrn
|
UTSW |
4 |
156,263,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Agrn
|
UTSW |
4 |
156,260,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Agrn
|
UTSW |
4 |
156,259,371 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Agrn
|
UTSW |
4 |
156,256,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7460:Agrn
|
UTSW |
4 |
156,258,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7531:Agrn
|
UTSW |
4 |
156,254,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Agrn
|
UTSW |
4 |
156,255,131 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7646:Agrn
|
UTSW |
4 |
156,279,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Agrn
|
UTSW |
4 |
156,253,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7714:Agrn
|
UTSW |
4 |
156,279,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Agrn
|
UTSW |
4 |
156,260,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Agrn
|
UTSW |
4 |
156,253,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7927:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8039:Agrn
|
UTSW |
4 |
156,253,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8056:Agrn
|
UTSW |
4 |
156,254,868 (GRCm39) |
missense |
probably benign |
|
|
R8061:Agrn
|
UTSW |
4 |
156,263,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Agrn
|
UTSW |
4 |
156,258,346 (GRCm39) |
missense |
probably benign |
|
|
R8159:Agrn
|
UTSW |
4 |
156,256,825 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8325:Agrn
|
UTSW |
4 |
156,258,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8338:Agrn
|
UTSW |
4 |
156,253,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8739:Agrn
|
UTSW |
4 |
156,257,045 (GRCm39) |
missense |
probably benign |
|
|
R8956:Agrn
|
UTSW |
4 |
156,250,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Agrn
|
UTSW |
4 |
156,253,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9112:Agrn
|
UTSW |
4 |
156,261,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Agrn
|
UTSW |
4 |
156,257,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Agrn
|
UTSW |
4 |
156,254,841 (GRCm39) |
missense |
|
|
|
R9619:Agrn
|
UTSW |
4 |
156,258,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9629:Agrn
|
UTSW |
4 |
156,257,094 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Agrn
|
UTSW |
4 |
156,258,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9749:Agrn
|
UTSW |
4 |
156,258,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9757:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9792:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9793:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Agrn
|
UTSW |
4 |
156,264,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Agrn
|
UTSW |
4 |
156,256,001 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCATGAGTTTAAGCCACTAC -3'
(R):5'- AGTTGCCTGGGTCTGAACAC -3'
Sequencing Primer
(F):5'- CCATGAGTTTAAGCCACTACCTATG -3'
(R):5'- GGTCTCTATGATAGTAGCGCTAACAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation