Incidental Mutation 'R7308:Col4a2'
| ID |
567392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a2
|
| Ensembl Gene |
ENSMUSG00000031503 |
| Gene Name |
collagen, type IV, alpha 2 |
| Synonyms |
Col4a-2 |
| MMRRC Submission |
045323-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 11456856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
| AlphaFold |
P08122 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033899
|
| SMART Domains |
Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,022,993 (GRCm39) |
I43T |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,953 (GRCm39) |
Q1175* |
probably null |
Het |
| Aqr |
G |
A |
2: 113,934,543 (GRCm39) |
A1366V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,392 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
A |
6: 136,542,087 (GRCm39) |
M607K |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,795,464 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,302,142 (GRCm39) |
V279E |
probably benign |
Het |
| Cd96 |
C |
T |
16: 45,892,097 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
G |
A |
14: 67,932,440 (GRCm39) |
P488S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,682,041 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,184,955 (GRCm39) |
R379G |
possibly damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,395 (GRCm39) |
S29G |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,959,010 (GRCm39) |
S2958P |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,631,596 (GRCm39) |
D4431G |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,206,015 (GRCm39) |
H84L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,733,950 (GRCm39) |
|
probably null |
Het |
| Fam178b |
G |
T |
1: 36,698,488 (GRCm39) |
Q78K |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,931 (GRCm39) |
N589S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,956,429 (GRCm39) |
H132Y |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,781,164 (GRCm39) |
R22G |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,755,669 (GRCm39) |
D617G |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,905,873 (GRCm39) |
D5E |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,977 (GRCm39) |
L304P |
probably damaging |
Het |
| Hmox1 |
T |
A |
8: 75,823,647 (GRCm39) |
I105N |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,469,866 (GRCm39) |
S38P |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,157,930 (GRCm39) |
S558P |
possibly damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,224,730 (GRCm39) |
H497L |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,381,003 (GRCm39) |
D1022N |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,475 (GRCm39) |
F479S |
possibly damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,273 (GRCm39) |
V203A |
probably benign |
Het |
| Lct |
G |
T |
1: 128,246,824 (GRCm39) |
P233Q |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,164,859 (GRCm39) |
D773G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
A |
T |
3: 100,527,421 (GRCm39) |
L333Q |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,899,359 (GRCm39) |
S1800R |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,998,452 (GRCm39) |
C118W |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,130,740 (GRCm39) |
D35V |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Or11g24 |
G |
A |
14: 50,662,722 (GRCm39) |
V249I |
possibly damaging |
Het |
| Or2y1c |
G |
A |
11: 49,360,754 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,736,175 (GRCm39) |
R217H |
possibly damaging |
Het |
| Pcsk4 |
G |
A |
10: 80,159,007 (GRCm39) |
P462L |
probably benign |
Het |
| Pdia5 |
T |
G |
16: 35,276,879 (GRCm39) |
K96N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,074 (GRCm39) |
Y707C |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,579,806 (GRCm39) |
N447Y |
unknown |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,397 (GRCm39) |
L695P |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,386,125 (GRCm39) |
A669V |
probably benign |
Het |
| Rdx |
A |
T |
9: 51,980,170 (GRCm39) |
K254N |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,705,294 (GRCm39) |
S95P |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,534,006 (GRCm39) |
S1118T |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,199,287 (GRCm39) |
P698L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,801,602 (GRCm39) |
E2338G |
probably benign |
Het |
| Taok3 |
T |
A |
5: 117,338,216 (GRCm39) |
Y91* |
probably null |
Het |
| Tbc1d31 |
C |
T |
15: 57,816,212 (GRCm39) |
L649F |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,872 (GRCm39) |
T223A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,864,710 (GRCm39) |
I939F |
possibly damaging |
Het |
| Trav17 |
T |
A |
14: 54,044,436 (GRCm39) |
Y69N |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,388,388 (GRCm39) |
D16G |
probably benign |
Het |
| Upf2 |
T |
A |
2: 5,978,329 (GRCm39) |
Y398N |
unknown |
Het |
| Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm39) |
T180A |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,817,672 (GRCm39) |
I773N |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,041,080 (GRCm39) |
M264K |
probably benign |
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 |
|
|
IGL03131:Col4a2
|
APN |
8 |
11,475,979 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGCACCCTTTCAGCTC -3'
(R):5'- GTCCTGAAGATGGGTGGAAGTC -3'
Sequencing Primer
(F):5'- CCGTAGGCAGAGGACCAG -3'
(R):5'- GGTGACTTGGCATTTGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation