Incidental Mutation 'IGL03131:Col4a2'
ID |
410341 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03131
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 11475979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 672
(V672I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: V672I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: V672I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:Collagen
|
56 |
119 |
1.2e-10 |
PFAM |
Pfam:Collagen
|
112 |
174 |
3.9e-8 |
PFAM |
low complexity region
|
193 |
229 |
N/A |
INTRINSIC |
Pfam:Collagen
|
289 |
348 |
1.3e-10 |
PFAM |
low complexity region
|
370 |
389 |
N/A |
INTRINSIC |
low complexity region
|
427 |
445 |
N/A |
INTRINSIC |
Pfam:Collagen
|
488 |
546 |
2e-10 |
PFAM |
Pfam:Collagen
|
590 |
655 |
4.5e-9 |
PFAM |
low complexity region
|
665 |
673 |
N/A |
INTRINSIC |
Pfam:Collagen
|
674 |
731 |
3.5e-10 |
PFAM |
Pfam:Collagen
|
714 |
775 |
4.3e-10 |
PFAM |
Pfam:Collagen
|
773 |
831 |
1.5e-10 |
PFAM |
Pfam:Collagen
|
861 |
935 |
8.1e-10 |
PFAM |
Pfam:Collagen
|
915 |
976 |
1.1e-9 |
PFAM |
Pfam:Collagen
|
978 |
1038 |
2.6e-8 |
PFAM |
Pfam:Collagen
|
1027 |
1091 |
1.7e-10 |
PFAM |
Pfam:Collagen
|
1094 |
1155 |
5.5e-11 |
PFAM |
Pfam:Collagen
|
1147 |
1211 |
1e-10 |
PFAM |
Pfam:Collagen
|
1271 |
1340 |
2.1e-8 |
PFAM |
Pfam:Collagen
|
1330 |
1392 |
7.1e-10 |
PFAM |
C4
|
1484 |
1591 |
7.85e-59 |
SMART |
C4
|
1592 |
1706 |
7.65e-71 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145295
|
SMART Domains |
Protein: ENSMUSP00000114737 Gene: ENSMUSG00000031503
Domain | Start | End | E-Value | Type |
Pfam:Collagen
|
6 |
55 |
9.7e-8 |
PFAM |
Pfam:Collagen
|
81 |
140 |
4.4e-12 |
PFAM |
Pfam:Collagen
|
145 |
210 |
2.7e-8 |
PFAM |
Pfam:Collagen
|
184 |
239 |
2.9e-8 |
PFAM |
low complexity region
|
280 |
293 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the alpha-2 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of alpha-1 and alpha-2 subunits that assembles into a type IV collagen network. Canstatin, a peptide derived fom the C-terminus of the collagen chain, is a matrikine that has been shown to inhibit angiogenesis. Homozygous knockout mice for this gene exhibit impaired basement membrane integrity and embryonic lethality. This gene shares a bi-directional promoter with a related gene on chromosome 8. [provided by RefSeq, Nov 2015] PHENOTYPE: ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted, knock-out(1) Gene trapped(6) Chemically induced(3) |
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
C |
3: 121,473,251 (GRCm39) |
R135S |
unknown |
Het |
A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
Abca12 |
A |
T |
1: 71,385,861 (GRCm39) |
F252L |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,575,640 (GRCm39) |
|
probably benign |
Het |
Acvr2b |
C |
A |
9: 119,260,350 (GRCm39) |
F364L |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,345,650 (GRCm39) |
C1564R |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,682,130 (GRCm39) |
T392A |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,157,322 (GRCm39) |
F767L |
possibly damaging |
Het |
Atg10 |
C |
A |
13: 91,085,412 (GRCm39) |
R179I |
probably null |
Het |
Bsph1 |
A |
T |
7: 13,207,012 (GRCm39) |
K129N |
probably damaging |
Het |
Calml4 |
A |
G |
9: 62,782,765 (GRCm39) |
D77G |
probably benign |
Het |
Cc2d1a |
T |
A |
8: 84,870,056 (GRCm39) |
K153M |
probably damaging |
Het |
Crnkl1 |
T |
C |
2: 145,774,178 (GRCm39) |
K95R |
probably benign |
Het |
Crtap |
T |
C |
9: 114,209,072 (GRCm39) |
D324G |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,138,231 (GRCm39) |
G1607E |
probably damaging |
Het |
Dcbld2 |
T |
G |
16: 58,272,051 (GRCm39) |
I369R |
probably benign |
Het |
Dmc1 |
T |
A |
15: 79,452,892 (GRCm39) |
I246L |
probably benign |
Het |
Dock1 |
G |
T |
7: 134,475,912 (GRCm39) |
V896L |
possibly damaging |
Het |
Eftud2 |
G |
A |
11: 102,761,009 (GRCm39) |
T112M |
probably damaging |
Het |
F5 |
A |
T |
1: 163,989,388 (GRCm39) |
I97F |
possibly damaging |
Het |
Fasn |
C |
T |
11: 120,701,550 (GRCm39) |
V1939M |
possibly damaging |
Het |
Gpatch2l |
T |
C |
12: 86,328,285 (GRCm39) |
V414A |
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,228,855 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,432,876 (GRCm39) |
N769T |
probably damaging |
Het |
Gtf3c2 |
A |
T |
5: 31,314,964 (GRCm39) |
F885I |
probably damaging |
Het |
Ifi209 |
C |
T |
1: 173,468,800 (GRCm39) |
T210I |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,520,359 (GRCm39) |
V1917A |
probably benign |
Het |
Mad1l1 |
G |
A |
5: 140,293,458 (GRCm39) |
A120V |
probably benign |
Het |
Mef2c |
T |
C |
13: 83,810,494 (GRCm39) |
I382T |
probably damaging |
Het |
Ms4a14 |
A |
T |
19: 11,285,056 (GRCm39) |
L171I |
probably benign |
Het |
Myf6 |
T |
A |
10: 107,330,132 (GRCm39) |
Q145L |
probably damaging |
Het |
Myh3 |
G |
A |
11: 66,981,935 (GRCm39) |
|
probably benign |
Het |
Nbas |
A |
G |
12: 13,329,417 (GRCm39) |
I121V |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,247,398 (GRCm39) |
S342T |
probably damaging |
Het |
Nlrp1b |
C |
T |
11: 71,052,741 (GRCm39) |
D896N |
possibly damaging |
Het |
Prss41 |
A |
G |
17: 24,061,498 (GRCm39) |
Y98H |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,665,425 (GRCm39) |
T450S |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,861 (GRCm39) |
R135C |
probably damaging |
Het |
Radil |
A |
G |
5: 142,481,097 (GRCm39) |
V570A |
probably damaging |
Het |
Sbno1 |
C |
T |
5: 124,526,668 (GRCm39) |
R949Q |
probably damaging |
Het |
Sec61a2 |
T |
A |
2: 5,887,689 (GRCm39) |
K98* |
probably null |
Het |
Serbp1 |
T |
A |
6: 67,258,807 (GRCm39) |
|
probably null |
Het |
Serpinb3c |
G |
T |
1: 107,199,457 (GRCm39) |
Q355K |
probably benign |
Het |
Slc34a3 |
T |
G |
2: 25,121,246 (GRCm39) |
D307A |
probably benign |
Het |
Smarcad1 |
T |
A |
6: 65,051,937 (GRCm39) |
S357T |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,918,075 (GRCm39) |
D353N |
possibly damaging |
Het |
Spdl1 |
T |
A |
11: 34,721,592 (GRCm39) |
Q39L |
possibly damaging |
Het |
Syne2 |
A |
C |
12: 76,104,264 (GRCm39) |
Q5485P |
probably damaging |
Het |
Synj1 |
C |
A |
16: 90,785,056 (GRCm39) |
V227F |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,506,882 (GRCm39) |
T88A |
probably benign |
Het |
Tasor |
C |
T |
14: 27,183,136 (GRCm39) |
Q532* |
probably null |
Het |
Tlr12 |
A |
G |
4: 128,509,670 (GRCm39) |
F860S |
probably damaging |
Het |
Trdn |
C |
A |
10: 33,274,410 (GRCm39) |
S461* |
probably null |
Het |
Trip4 |
G |
A |
9: 65,764,727 (GRCm39) |
P413S |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
Het |
Wnt9a |
T |
C |
11: 59,221,855 (GRCm39) |
L251P |
probably damaging |
Het |
Xrcc1 |
A |
T |
7: 24,272,719 (GRCm39) |
K618* |
probably null |
Het |
Zfp759 |
T |
C |
13: 67,286,728 (GRCm39) |
L93P |
probably damaging |
Het |
|
Other mutations in Col4a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Col4a2
|
APN |
8 |
11,493,685 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00485:Col4a2
|
APN |
8 |
11,489,012 (GRCm39) |
missense |
probably benign |
|
IGL00909:Col4a2
|
APN |
8 |
11,498,167 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01574:Col4a2
|
APN |
8 |
11,489,306 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01914:Col4a2
|
APN |
8 |
11,464,754 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02147:Col4a2
|
APN |
8 |
11,458,140 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02205:Col4a2
|
APN |
8 |
11,481,305 (GRCm39) |
nonsense |
probably null |
|
IGL02423:Col4a2
|
APN |
8 |
11,483,800 (GRCm39) |
missense |
probably benign |
|
band
|
UTSW |
8 |
11,498,225 (GRCm39) |
missense |
probably benign |
0.00 |
Binder
|
UTSW |
8 |
11,466,070 (GRCm39) |
missense |
probably damaging |
1.00 |
G4846:Col4a2
|
UTSW |
8 |
11,458,872 (GRCm39) |
splice site |
probably benign |
|
IGL03054:Col4a2
|
UTSW |
8 |
11,498,270 (GRCm39) |
missense |
probably damaging |
0.96 |
R0087:Col4a2
|
UTSW |
8 |
11,491,296 (GRCm39) |
missense |
probably benign |
|
R0124:Col4a2
|
UTSW |
8 |
11,458,871 (GRCm39) |
splice site |
probably benign |
|
R0603:Col4a2
|
UTSW |
8 |
11,464,779 (GRCm39) |
missense |
probably benign |
|
R0646:Col4a2
|
UTSW |
8 |
11,481,252 (GRCm39) |
missense |
probably benign |
0.17 |
R0970:Col4a2
|
UTSW |
8 |
11,465,438 (GRCm39) |
missense |
probably benign |
0.00 |
R1738:Col4a2
|
UTSW |
8 |
11,496,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R1746:Col4a2
|
UTSW |
8 |
11,496,020 (GRCm39) |
missense |
probably benign |
0.35 |
R1826:Col4a2
|
UTSW |
8 |
11,363,509 (GRCm39) |
critical splice donor site |
probably null |
|
R1834:Col4a2
|
UTSW |
8 |
11,452,997 (GRCm39) |
missense |
probably benign |
0.10 |
R2016:Col4a2
|
UTSW |
8 |
11,495,086 (GRCm39) |
missense |
probably benign |
0.04 |
R2017:Col4a2
|
UTSW |
8 |
11,495,086 (GRCm39) |
missense |
probably benign |
0.04 |
R2124:Col4a2
|
UTSW |
8 |
11,466,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R2137:Col4a2
|
UTSW |
8 |
11,483,749 (GRCm39) |
missense |
probably benign |
|
R2207:Col4a2
|
UTSW |
8 |
11,493,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3156:Col4a2
|
UTSW |
8 |
11,363,414 (GRCm39) |
unclassified |
probably benign |
|
R4169:Col4a2
|
UTSW |
8 |
11,479,391 (GRCm39) |
missense |
probably benign |
0.22 |
R4679:Col4a2
|
UTSW |
8 |
11,481,337 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4705:Col4a2
|
UTSW |
8 |
11,363,504 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4710:Col4a2
|
UTSW |
8 |
11,459,462 (GRCm39) |
missense |
probably benign |
0.22 |
R4716:Col4a2
|
UTSW |
8 |
11,452,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Col4a2
|
UTSW |
8 |
11,487,590 (GRCm39) |
missense |
probably benign |
|
R4732:Col4a2
|
UTSW |
8 |
11,496,197 (GRCm39) |
missense |
probably benign |
0.02 |
R4732:Col4a2
|
UTSW |
8 |
11,464,779 (GRCm39) |
missense |
probably benign |
|
R4733:Col4a2
|
UTSW |
8 |
11,496,197 (GRCm39) |
missense |
probably benign |
0.02 |
R4733:Col4a2
|
UTSW |
8 |
11,464,779 (GRCm39) |
missense |
probably benign |
|
R4834:Col4a2
|
UTSW |
8 |
11,456,836 (GRCm39) |
nonsense |
probably null |
|
R4835:Col4a2
|
UTSW |
8 |
11,473,570 (GRCm39) |
nonsense |
probably null |
|
R4953:Col4a2
|
UTSW |
8 |
11,479,505 (GRCm39) |
missense |
probably benign |
0.02 |
R5078:Col4a2
|
UTSW |
8 |
11,493,936 (GRCm39) |
missense |
probably benign |
|
R5204:Col4a2
|
UTSW |
8 |
11,448,651 (GRCm39) |
splice site |
probably null |
|
R5221:Col4a2
|
UTSW |
8 |
11,498,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5355:Col4a2
|
UTSW |
8 |
11,495,984 (GRCm39) |
missense |
probably damaging |
0.96 |
R5478:Col4a2
|
UTSW |
8 |
11,448,697 (GRCm39) |
missense |
probably benign |
0.21 |
R5492:Col4a2
|
UTSW |
8 |
11,488,608 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5646:Col4a2
|
UTSW |
8 |
11,491,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Col4a2
|
UTSW |
8 |
11,475,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R5948:Col4a2
|
UTSW |
8 |
11,470,600 (GRCm39) |
missense |
probably benign |
0.21 |
R6329:Col4a2
|
UTSW |
8 |
11,496,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R6496:Col4a2
|
UTSW |
8 |
11,452,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R6496:Col4a2
|
UTSW |
8 |
11,452,993 (GRCm39) |
nonsense |
probably null |
|
R6531:Col4a2
|
UTSW |
8 |
11,458,135 (GRCm39) |
missense |
probably benign |
0.00 |
R7185:Col4a2
|
UTSW |
8 |
11,449,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R7196:Col4a2
|
UTSW |
8 |
11,448,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7266:Col4a2
|
UTSW |
8 |
11,475,542 (GRCm39) |
critical splice donor site |
probably null |
|
R7308:Col4a2
|
UTSW |
8 |
11,456,856 (GRCm39) |
critical splice donor site |
probably null |
|
R7341:Col4a2
|
UTSW |
8 |
11,448,678 (GRCm39) |
missense |
probably damaging |
0.97 |
R7394:Col4a2
|
UTSW |
8 |
11,496,184 (GRCm39) |
missense |
probably benign |
0.00 |
R7434:Col4a2
|
UTSW |
8 |
11,471,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R7606:Col4a2
|
UTSW |
8 |
11,493,571 (GRCm39) |
missense |
probably benign |
0.00 |
R7646:Col4a2
|
UTSW |
8 |
11,495,086 (GRCm39) |
missense |
probably benign |
0.04 |
R7712:Col4a2
|
UTSW |
8 |
11,475,376 (GRCm39) |
missense |
probably benign |
|
R7752:Col4a2
|
UTSW |
8 |
11,479,358 (GRCm39) |
missense |
probably benign |
0.38 |
R7844:Col4a2
|
UTSW |
8 |
11,475,453 (GRCm39) |
nonsense |
probably null |
|
R7901:Col4a2
|
UTSW |
8 |
11,479,358 (GRCm39) |
missense |
probably benign |
0.38 |
R8186:Col4a2
|
UTSW |
8 |
11,475,542 (GRCm39) |
critical splice donor site |
probably null |
|
R8331:Col4a2
|
UTSW |
8 |
11,463,985 (GRCm39) |
nonsense |
probably null |
|
R8389:Col4a2
|
UTSW |
8 |
11,498,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R8547:Col4a2
|
UTSW |
8 |
11,479,305 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8927:Col4a2
|
UTSW |
8 |
11,475,543 (GRCm39) |
splice site |
probably null |
|
R9051:Col4a2
|
UTSW |
8 |
11,498,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Col4a2
|
UTSW |
8 |
11,493,227 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9221:Col4a2
|
UTSW |
8 |
11,491,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9323:Col4a2
|
UTSW |
8 |
11,493,413 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9337:Col4a2
|
UTSW |
8 |
11,479,346 (GRCm39) |
missense |
probably benign |
0.00 |
R9377:Col4a2
|
UTSW |
8 |
11,483,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R9697:Col4a2
|
UTSW |
8 |
11,487,628 (GRCm39) |
missense |
probably benign |
0.34 |
R9701:Col4a2
|
UTSW |
8 |
11,493,104 (GRCm39) |
missense |
probably benign |
0.00 |
R9729:Col4a2
|
UTSW |
8 |
11,496,157 (GRCm39) |
missense |
probably benign |
0.08 |
R9802:Col4a2
|
UTSW |
8 |
11,493,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |