Incidental Mutation 'R1698:Agrn'
| ID |
192387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
NMF380, Agrin, nmf380 |
| MMRRC Submission |
039731-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.464)
|
| Stock # |
R1698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156165290-156197488 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 156166558 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1931
(Q1931K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| PDB Structure |
Crystal structure of the G2 domain of Agrin from Mus Musculus [X-RAY DIFFRACTION]
|
| 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 benign
Transcript: ENSMUST00000105574
AA Change: Q1908K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: Q1908K
| 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 benign
Transcript: ENSMUST00000105575
AA Change: Q1931K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: Q1931K
| 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: ENSMUST00000154494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180572
AA Change: Q2015K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: Q2015K
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
C |
6: 121,645,158 (GRCm38) |
E340A |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,314,507 (GRCm38) |
D2963G |
probably benign |
Het |
| Actn3 |
T |
C |
19: 4,862,207 (GRCm38) |
D783G |
possibly damaging |
Het |
| Adamtsl2 |
A |
G |
2: 27,103,127 (GRCm38) |
E723G |
possibly damaging |
Het |
| Ankrd27 |
G |
A |
7: 35,614,521 (GRCm38) |
A426T |
probably benign |
Het |
| Atg9b |
C |
A |
5: 24,388,188 (GRCm38) |
G406C |
probably damaging |
Het |
| BC005561 |
C |
T |
5: 104,520,510 (GRCm38) |
A966V |
probably benign |
Het |
| C1ra |
A |
T |
6: 124,522,766 (GRCm38) |
Q637L |
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,719,581 (GRCm38) |
M438L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,953,358 (GRCm38) |
I267V |
possibly damaging |
Het |
| Chrna5 |
A |
G |
9: 55,004,642 (GRCm38) |
Y138C |
probably damaging |
Het |
| Chst3 |
T |
A |
10: 60,185,703 (GRCm38) |
M441L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,063,519 (GRCm38) |
P3434S |
probably benign |
Het |
| Cog2 |
T |
A |
8: 124,525,683 (GRCm38) |
L42Q |
probably damaging |
Het |
| Cpq |
A |
T |
15: 33,250,126 (GRCm38) |
I210F |
probably benign |
Het |
| Crnn |
C |
A |
3: 93,148,458 (GRCm38) |
Q184K |
probably damaging |
Het |
| Csnka2ip |
A |
T |
16: 64,478,059 (GRCm38) |
Y647* |
probably null |
Het |
| D5Ertd579e |
C |
T |
5: 36,604,530 (GRCm38) |
R1331H |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,917,380 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,626,992 (GRCm38) |
Q1231R |
possibly damaging |
Het |
| Erbin |
T |
A |
13: 103,833,731 (GRCm38) |
I1126F |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,702,469 (GRCm38) |
D518G |
probably benign |
Het |
| Gcc1 |
A |
G |
6: 28,421,111 (GRCm38) |
L69P |
possibly damaging |
Het |
| Gkn1 |
T |
C |
6: 87,347,169 (GRCm38) |
Y119C |
probably damaging |
Het |
| Gmpr |
T |
G |
13: 45,517,044 (GRCm38) |
W81G |
probably benign |
Het |
| Gyg |
T |
A |
3: 20,138,051 (GRCm38) |
I236F |
probably benign |
Het |
| Hcrtr2 |
T |
C |
9: 76,246,453 (GRCm38) |
Y219C |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,565,369 (GRCm38) |
Q5379* |
probably null |
Het |
| Kank1 |
T |
C |
19: 25,411,317 (GRCm38) |
C785R |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,851,806 (GRCm38) |
C3036* |
probably null |
Het |
| Mdga2 |
T |
C |
12: 66,689,335 (GRCm38) |
D373G |
probably damaging |
Het |
| Mgat2 |
A |
T |
12: 69,185,719 (GRCm38) |
I356F |
probably benign |
Het |
| Miga2 |
A |
G |
2: 30,377,997 (GRCm38) |
D346G |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,760,258 (GRCm38) |
L1596Q |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,914,140 (GRCm38) |
R386Q |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,919,980 (GRCm38) |
S1349R |
probably benign |
Het |
| Mtmr3 |
C |
T |
11: 4,492,825 (GRCm38) |
R403H |
possibly damaging |
Het |
| Mycbpap |
G |
A |
11: 94,508,143 (GRCm38) |
Q460* |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,868,181 (GRCm38) |
V1025A |
probably benign |
Het |
| Ncapd2 |
C |
T |
6: 125,168,590 (GRCm38) |
E1365K |
probably null |
Het |
| Nkiras2 |
C |
A |
11: 100,625,163 (GRCm38) |
D105E |
probably damaging |
Het |
| Nolc1 |
T |
G |
19: 46,081,431 (GRCm38) |
|
probably null |
Het |
| Nos1 |
T |
C |
5: 117,867,232 (GRCm38) |
F6L |
probably benign |
Het |
| Olfr1112 |
G |
T |
2: 87,191,737 (GRCm38) |
V17L |
probably benign |
Het |
| Olfr1278 |
T |
A |
2: 111,292,560 (GRCm38) |
C97* |
probably null |
Het |
| Olfr1369-ps1 |
C |
T |
13: 21,116,565 (GRCm38) |
T291I |
probably benign |
Het |
| Olfr218 |
A |
T |
1: 173,203,371 (GRCm38) |
N5I |
probably damaging |
Het |
| Olfr325 |
T |
C |
11: 58,581,251 (GRCm38) |
Y136H |
probably damaging |
Het |
| Olfr910 |
T |
A |
9: 38,539,256 (GRCm38) |
Y120* |
probably null |
Het |
| Pfkm |
A |
G |
15: 98,128,318 (GRCm38) |
E598G |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,807,630 (GRCm38) |
D861E |
unknown |
Het |
| Polr2a |
A |
G |
11: 69,739,877 (GRCm38) |
|
probably null |
Het |
| Popdc2 |
G |
A |
16: 38,369,491 (GRCm38) |
V167M |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,885,798 (GRCm38) |
S422P |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,568,375 (GRCm38) |
K490R |
possibly damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,495,221 (GRCm38) |
D286V |
probably damaging |
Het |
| Rdh13 |
A |
G |
7: 4,427,791 (GRCm38) |
W223R |
probably damaging |
Het |
| Riok3 |
T |
C |
18: 12,128,929 (GRCm38) |
S7P |
probably benign |
Het |
| Rnaseh2b |
A |
G |
14: 62,353,632 (GRCm38) |
E144G |
probably benign |
Het |
| Rnf20 |
C |
T |
4: 49,651,498 (GRCm38) |
Q655* |
probably null |
Het |
| Rpap2 |
T |
C |
5: 107,603,550 (GRCm38) |
Y8H |
probably damaging |
Het |
| Slc5a10 |
T |
C |
11: 61,709,602 (GRCm38) |
Y181C |
probably benign |
Het |
| Snd1 |
G |
T |
6: 28,888,253 (GRCm38) |
G896* |
probably null |
Het |
| Spast |
C |
T |
17: 74,356,160 (GRCm38) |
Q158* |
probably null |
Het |
| Tas2r104 |
G |
A |
6: 131,685,584 (GRCm38) |
S54F |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,628,017 (GRCm38) |
W611* |
probably null |
Het |
| Timp4 |
G |
A |
6: 115,250,403 (GRCm38) |
|
probably null |
Het |
| Tmem45a |
G |
A |
16: 56,823,570 (GRCm38) |
S72L |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,788,703 (GRCm38) |
T124A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,942,915 (GRCm38) |
D2381G |
probably damaging |
Het |
| Uevld |
T |
C |
7: 46,955,624 (GRCm38) |
T41A |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Unc5d |
T |
C |
8: 28,696,478 (GRCm38) |
E527G |
probably damaging |
Het |
| Vmn2r125 |
C |
T |
4: 156,351,038 (GRCm38) |
T237I |
probably benign |
Het |
| Vmn2r63 |
A |
C |
7: 42,933,614 (GRCm38) |
I59S |
probably benign |
Het |
| Vps72 |
G |
A |
3: 95,118,695 (GRCm38) |
S106N |
probably benign |
Het |
| Zan |
A |
C |
5: 137,409,669 (GRCm38) |
|
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,685,462 (GRCm38) |
K1190E |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 129,017,358 (GRCm38) |
V1103A |
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,562,157 (GRCm38) |
T277I |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,769,509 (GRCm38) |
S1149P |
probably 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 |
|
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 |
|
|
R5560:Agrn
|
UTSW |
4 |
156,178,497 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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'- GGCCAACGTGCAGTCAAGAAAATC -3'
(R):5'- TTGTCCTGGAGCTGACATCTGGAG -3'
Sequencing Primer
(F):5'- TCTAGTGGCAGCTCAGAGA -3'
(R):5'- CTGACATCTGGAGTGGCTCATC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation