Incidental Mutation 'R5560:Agrn'
| ID |
436508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
NMF380, Agrin, nmf380 |
| MMRRC Submission |
043117-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.464)
|
| Stock # |
R5560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156165290-156197488 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156178497 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 441
(D441G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071248
AA Change: D334G
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: D334G
| 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 |
possibly damaging
Transcript: ENSMUST00000105574
AA Change: D334G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: D334G
| 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 |
possibly damaging
Transcript: ENSMUST00000105575
AA Change: D334G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: D334G
| 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 |
probably damaging
Transcript: ENSMUST00000180572
AA Change: D441G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: D441G
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,506,354 (GRCm38) |
E98K |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,426,040 (GRCm38) |
W188R |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,383,490 (GRCm38) |
S570P |
probably benign |
Het |
| Ano9 |
C |
G |
7: 141,110,482 (GRCm38) |
G80R |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,634,437 (GRCm38) |
V250E |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,774,358 (GRCm38) |
D583G |
possibly damaging |
Het |
| Bcar3 |
T |
A |
3: 122,426,575 (GRCm38) |
D40E |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,882,860 (GRCm38) |
D133G |
probably benign |
Het |
| Ccna1 |
A |
T |
3: 55,048,569 (GRCm38) |
Y269N |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,741,413 (GRCm38) |
Y250N |
probably damaging |
Het |
| Cep112 |
A |
C |
11: 108,437,235 (GRCm38) |
K98Q |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,318,269 (GRCm38) |
D54G |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,469,819 (GRCm38) |
H518N |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,182,435 (GRCm38) |
L581M |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,729,393 (GRCm38) |
M446L |
probably damaging |
Het |
| D430042O09Rik |
T |
C |
7: 125,854,561 (GRCm38) |
V1150A |
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,161,555 (GRCm38) |
I756K |
probably damaging |
Het |
| Dennd3 |
T |
G |
15: 73,532,895 (GRCm38) |
L273R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 16,218,541 (GRCm38) |
R53L |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,881,740 (GRCm38) |
T3722I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,892,752 (GRCm38) |
|
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,266,241 (GRCm38) |
Y217C |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 28,184,253 (GRCm38) |
R178Q |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,686,895 (GRCm38) |
C1009S |
probably benign |
Het |
| Fam198a |
T |
C |
9: 121,978,223 (GRCm38) |
F478L |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,243,697 (GRCm38) |
T57S |
probably damaging |
Het |
| Gjc2 |
A |
G |
11: 59,177,359 (GRCm38) |
V99A |
possibly damaging |
Het |
| Gm9955 |
A |
T |
18: 24,709,092 (GRCm38) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,826,290 (GRCm38) |
I734V |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,451,119 (GRCm38) |
H2494L |
probably benign |
Het |
| Hist1h1c |
A |
G |
13: 23,739,407 (GRCm38) |
S187G |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Hmgcs1 |
A |
G |
13: 119,699,815 (GRCm38) |
|
probably null |
Het |
| Invs |
A |
T |
4: 48,416,084 (GRCm38) |
T655S |
probably benign |
Het |
| Ipo9 |
G |
A |
1: 135,402,245 (GRCm38) |
L486F |
probably damaging |
Het |
| Kcnj6 |
A |
T |
16: 94,832,965 (GRCm38) |
L96M |
probably benign |
Het |
| Lfng |
A |
G |
5: 140,614,267 (GRCm38) |
D354G |
possibly damaging |
Het |
| Lgsn |
T |
C |
1: 31,196,872 (GRCm38) |
L139P |
probably damaging |
Het |
| Madd |
C |
A |
2: 91,163,545 (GRCm38) |
V923L |
probably damaging |
Het |
| Mfsd7a |
A |
T |
5: 108,448,863 (GRCm38) |
M1K |
probably null |
Het |
| Mical1 |
A |
T |
10: 41,478,965 (GRCm38) |
I157F |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,152,816 (GRCm38) |
N154S |
possibly damaging |
Het |
| Mrps14 |
A |
G |
1: 160,195,535 (GRCm38) |
K6R |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,861,073 (GRCm38) |
C421S |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,868,295 (GRCm38) |
I696T |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 66,883,545 (GRCm38) |
Y375H |
probably damaging |
Het |
| Nsf |
T |
A |
11: 103,863,255 (GRCm38) |
E485V |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,309,885 (GRCm38) |
D307G |
probably damaging |
Het |
| Ocel1 |
C |
A |
8: 71,372,478 (GRCm38) |
P108T |
probably damaging |
Het |
| Oip5 |
A |
G |
2: 119,613,059 (GRCm38) |
S177P |
probably damaging |
Het |
| Olfr1436 |
G |
A |
19: 12,298,644 (GRCm38) |
Q163* |
probably null |
Het |
| Olfr365 |
A |
G |
2: 37,201,930 (GRCm38) |
I230V |
probably benign |
Het |
| Olfr51 |
A |
C |
11: 51,007,523 (GRCm38) |
I184L |
possibly damaging |
Het |
| Olfr943 |
A |
C |
9: 39,184,184 (GRCm38) |
E2A |
probably benign |
Het |
| Omg |
A |
G |
11: 79,501,758 (GRCm38) |
W425R |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,253,407 (GRCm38) |
Y1339C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,922,949 (GRCm38) |
D6G |
possibly damaging |
Het |
| Pou4f3 |
C |
A |
18: 42,395,415 (GRCm38) |
P141Q |
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,655,501 (GRCm38) |
N337I |
possibly damaging |
Het |
| Rhoj |
C |
T |
12: 75,391,712 (GRCm38) |
P91S |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,249,998 (GRCm38) |
F367S |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,493,196 (GRCm38) |
R307S |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,754,877 (GRCm38) |
F2788Y |
probably damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,846,224 (GRCm38) |
K78E |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,560,286 (GRCm38) |
A123E |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,549,839 (GRCm38) |
Y623* |
probably null |
Het |
| Tbl2 |
C |
T |
5: 135,157,591 (GRCm38) |
Q216* |
probably null |
Het |
| Thegl |
A |
G |
5: 77,016,486 (GRCm38) |
D112G |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 64,008,709 (GRCm38) |
I860T |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,373,303 (GRCm38) |
K484R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,390,567 (GRCm38) |
V2124A |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 45,310,332 (GRCm38) |
W713R |
probably damaging |
Het |
| Uap1l1 |
T |
C |
2: 25,362,676 (GRCm38) |
T451A |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,131,260 (GRCm38) |
C668S |
probably damaging |
Het |
| Ubxn11 |
T |
C |
4: 134,126,624 (GRCm38) |
F441S |
probably damaging |
Het |
| Vmn1r22 |
C |
T |
6: 57,900,738 (GRCm38) |
V85M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,751,942 (GRCm38) |
I90L |
probably damaging |
Het |
| Wdr60 |
T |
C |
12: 116,218,113 (GRCm38) |
S769G |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 82,764,956 (GRCm38) |
E196G |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp994 |
T |
C |
17: 22,201,713 (GRCm38) |
E85G |
possibly damaging |
Het |
|
| Other mutations in Agrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Agrn
|
APN |
4 |
156,170,572 (GRCm38) |
splice site |
probably benign |
|
|
IGL00811:Agrn
|
APN |
4 |
156,168,774 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01066:Agrn
|
APN |
4 |
156,177,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01412:Agrn
|
APN |
4 |
156,171,034 (GRCm38) |
splice site |
probably benign |
|
|
IGL01414:Agrn
|
APN |
4 |
156,195,239 (GRCm38) |
splice site |
probably null |
|
|
IGL02075:Agrn
|
APN |
4 |
156,170,210 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL02609:Agrn
|
APN |
4 |
156,175,223 (GRCm38) |
splice site |
probably benign |
|
|
IGL02669:Agrn
|
APN |
4 |
156,174,561 (GRCm38) |
splice site |
probably benign |
|
|
IGL02671:Agrn
|
APN |
4 |
156,174,561 (GRCm38) |
splice site |
probably benign |
|
|
IGL02672:Agrn
|
APN |
4 |
156,174,561 (GRCm38) |
splice site |
probably benign |
|
|
IGL02674:Agrn
|
APN |
4 |
156,174,561 (GRCm38) |
splice site |
probably benign |
|
|
IGL02724:Agrn
|
APN |
4 |
156,172,807 (GRCm38) |
nonsense |
probably null |
|
|
IGL02804:Agrn
|
APN |
4 |
156,174,055 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02986:Agrn
|
APN |
4 |
156,178,854 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03160:Agrn
|
APN |
4 |
156,170,363 (GRCm38) |
missense |
probably damaging |
0.98 |
|
BB004:Agrn
|
UTSW |
4 |
156,172,809 (GRCm38) |
missense |
probably damaging |
0.99 |
|
BB014:Agrn
|
UTSW |
4 |
156,172,809 (GRCm38) |
missense |
probably damaging |
0.99 |
|
F6893:Agrn
|
UTSW |
4 |
156,174,179 (GRCm38) |
missense |
probably benign |
|
|
R0092:Agrn
|
UTSW |
4 |
156,178,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,174,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,174,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0482:Agrn
|
UTSW |
4 |
156,173,555 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0531:Agrn
|
UTSW |
4 |
156,179,434 (GRCm38) |
missense |
probably benign |
0.38 |
|
R0536:Agrn
|
UTSW |
4 |
156,179,553 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0690:Agrn
|
UTSW |
4 |
156,174,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0750:Agrn
|
UTSW |
4 |
156,166,937 (GRCm38) |
nonsense |
probably null |
|
|
R1079:Agrn
|
UTSW |
4 |
156,177,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1199:Agrn
|
UTSW |
4 |
156,172,299 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1222:Agrn
|
UTSW |
4 |
156,177,385 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1534:Agrn
|
UTSW |
4 |
156,176,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1587:Agrn
|
UTSW |
4 |
156,179,440 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1625:Agrn
|
UTSW |
4 |
156,172,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1698:Agrn
|
UTSW |
4 |
156,166,558 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1717:Agrn
|
UTSW |
4 |
156,166,519 (GRCm38) |
frame shift |
probably null |
|
|
R1718:Agrn
|
UTSW |
4 |
156,166,519 (GRCm38) |
frame shift |
probably null |
|
|
R1721:Agrn
|
UTSW |
4 |
156,175,173 (GRCm38) |
nonsense |
probably null |
|
|
R1765:Agrn
|
UTSW |
4 |
156,176,827 (GRCm38) |
nonsense |
probably null |
|
|
R1840:Agrn
|
UTSW |
4 |
156,167,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1865:Agrn
|
UTSW |
4 |
156,166,519 (GRCm38) |
frame shift |
probably null |
|
|
R2105:Agrn
|
UTSW |
4 |
156,177,299 (GRCm38) |
nonsense |
probably null |
|
|
R2265:Agrn
|
UTSW |
4 |
156,179,218 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2266:Agrn
|
UTSW |
4 |
156,179,218 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2269:Agrn
|
UTSW |
4 |
156,179,218 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2382:Agrn
|
UTSW |
4 |
156,176,516 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2497:Agrn
|
UTSW |
4 |
156,173,811 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2509:Agrn
|
UTSW |
4 |
156,166,424 (GRCm38) |
splice site |
probably null |
|
|
R2510:Agrn
|
UTSW |
4 |
156,166,424 (GRCm38) |
splice site |
probably null |
|
|
R2511:Agrn
|
UTSW |
4 |
156,166,424 (GRCm38) |
splice site |
probably null |
|
|
R2994:Agrn
|
UTSW |
4 |
156,167,328 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3824:Agrn
|
UTSW |
4 |
156,169,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4736:Agrn
|
UTSW |
4 |
156,172,401 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4755:Agrn
|
UTSW |
4 |
156,173,522 (GRCm38) |
intron |
probably benign |
|
|
R4853:Agrn
|
UTSW |
4 |
156,185,550 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4878:Agrn
|
UTSW |
4 |
156,170,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Agrn
|
UTSW |
4 |
156,185,553 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5228:Agrn
|
UTSW |
4 |
156,166,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5236:Agrn
|
UTSW |
4 |
156,178,858 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5269:Agrn
|
UTSW |
4 |
156,168,990 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5282:Agrn
|
UTSW |
4 |
156,173,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5449:Agrn
|
UTSW |
4 |
156,167,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5668:Agrn
|
UTSW |
4 |
156,167,313 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5725:Agrn
|
UTSW |
4 |
156,173,875 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5967:Agrn
|
UTSW |
4 |
156,175,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6226:Agrn
|
UTSW |
4 |
156,173,609 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6338:Agrn
|
UTSW |
4 |
156,170,585 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6351:Agrn
|
UTSW |
4 |
156,179,434 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6437:Agrn
|
UTSW |
4 |
156,176,778 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6490:Agrn
|
UTSW |
4 |
156,167,362 (GRCm38) |
nonsense |
probably null |
|
|
R6909:Agrn
|
UTSW |
4 |
156,177,007 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7110:Agrn
|
UTSW |
4 |
156,178,875 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7123:Agrn
|
UTSW |
4 |
156,172,840 (GRCm38) |
missense |
probably benign |
|
|
R7163:Agrn
|
UTSW |
4 |
156,178,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7180:Agrn
|
UTSW |
4 |
156,171,839 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7251:Agrn
|
UTSW |
4 |
156,174,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7289:Agrn
|
UTSW |
4 |
156,178,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7335:Agrn
|
UTSW |
4 |
156,176,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7336:Agrn
|
UTSW |
4 |
156,174,914 (GRCm38) |
nonsense |
probably null |
|
|
R7406:Agrn
|
UTSW |
4 |
156,172,301 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7460:Agrn
|
UTSW |
4 |
156,174,424 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7531:Agrn
|
UTSW |
4 |
156,169,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7585:Agrn
|
UTSW |
4 |
156,170,674 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7646:Agrn
|
UTSW |
4 |
156,195,354 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7652:Agrn
|
UTSW |
4 |
156,169,218 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7714:Agrn
|
UTSW |
4 |
156,195,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7751:Agrn
|
UTSW |
4 |
156,176,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7852:Agrn
|
UTSW |
4 |
156,169,057 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7927:Agrn
|
UTSW |
4 |
156,172,809 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8039:Agrn
|
UTSW |
4 |
156,169,011 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8056:Agrn
|
UTSW |
4 |
156,170,411 (GRCm38) |
missense |
probably benign |
|
|
R8061:Agrn
|
UTSW |
4 |
156,178,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8158:Agrn
|
UTSW |
4 |
156,173,889 (GRCm38) |
missense |
probably benign |
|
|
R8159:Agrn
|
UTSW |
4 |
156,172,368 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8325:Agrn
|
UTSW |
4 |
156,173,662 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8338:Agrn
|
UTSW |
4 |
156,168,561 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8739:Agrn
|
UTSW |
4 |
156,172,588 (GRCm38) |
missense |
probably benign |
|
|
R8956:Agrn
|
UTSW |
4 |
156,166,538 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9094:Agrn
|
UTSW |
4 |
156,168,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9112:Agrn
|
UTSW |
4 |
156,177,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9384:Agrn
|
UTSW |
4 |
156,172,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9472:Agrn
|
UTSW |
4 |
156,170,384 (GRCm38) |
missense |
|
|
|
R9619:Agrn
|
UTSW |
4 |
156,174,033 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9629:Agrn
|
UTSW |
4 |
156,172,637 (GRCm38) |
nonsense |
probably null |
|
|
R9732:Agrn
|
UTSW |
4 |
156,173,989 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9749:Agrn
|
UTSW |
4 |
156,173,657 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9757:Agrn
|
UTSW |
4 |
156,176,778 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9792:Agrn
|
UTSW |
4 |
156,176,672 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9793:Agrn
|
UTSW |
4 |
156,176,672 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1177:Agrn
|
UTSW |
4 |
156,179,576 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1177:Agrn
|
UTSW |
4 |
156,171,544 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTGCACACTGCCTTTGTC -3'
(R):5'- GGTGTGATACTTTGCCTATCTGATC -3'
Sequencing Primer
(F):5'- TTGTCCCACCTCCCAGG -3'
(R):5'- GATCTCCTTGTCTATTCCCAGACCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation