Incidental Mutation 'R7712:Col4a2'
ID |
594687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
045770-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7712 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 11475376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 600
(L600H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: L600H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: L600H
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: 99.7%
- 20x: 99.2%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
C |
5: 114,303,799 (GRCm39) |
D74A |
probably benign |
Het |
Alox15 |
T |
C |
11: 70,241,079 (GRCm39) |
|
probably null |
Het |
Ano5 |
A |
G |
7: 51,222,805 (GRCm39) |
T455A |
probably benign |
Het |
Ano5 |
T |
G |
7: 51,240,403 (GRCm39) |
I827S |
probably damaging |
Het |
Arid1a |
G |
A |
4: 133,479,922 (GRCm39) |
A334V |
probably benign |
Het |
Atp13a4 |
A |
G |
16: 29,278,305 (GRCm39) |
C298R |
|
Het |
Atp4a |
T |
A |
7: 30,414,978 (GRCm39) |
S256T |
probably damaging |
Het |
Atp6v1c1 |
G |
A |
15: 38,687,049 (GRCm39) |
V215I |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,582,109 (GRCm39) |
F600L |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,018,257 (GRCm39) |
Y376F |
possibly damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,567,347 (GRCm39) |
D986V |
probably damaging |
Het |
Ccdc162 |
A |
G |
10: 41,503,223 (GRCm39) |
F973S |
possibly damaging |
Het |
Ccdc177 |
G |
A |
12: 80,804,712 (GRCm39) |
Q521* |
probably null |
Het |
Cd209b |
T |
A |
8: 3,973,299 (GRCm39) |
E158D |
possibly damaging |
Het |
Cdk14 |
G |
A |
5: 5,430,061 (GRCm39) |
T22I |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,688,063 (GRCm39) |
I968F |
possibly damaging |
Het |
Cnot7 |
T |
C |
8: 40,947,122 (GRCm39) |
Y255C |
probably damaging |
Het |
Cpne7 |
C |
A |
8: 123,850,920 (GRCm39) |
L129M |
probably damaging |
Het |
Cpxm2 |
G |
T |
7: 131,756,107 (GRCm39) |
P79Q |
possibly damaging |
Het |
Dhx9 |
T |
A |
1: 153,340,747 (GRCm39) |
N631I |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,026,528 (GRCm39) |
S1879P |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
Dok7 |
A |
G |
5: 35,223,866 (GRCm39) |
N98S |
probably damaging |
Het |
Fgd2 |
A |
G |
17: 29,595,886 (GRCm39) |
T515A |
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
Gm5796 |
A |
G |
14: 15,379,960 (GRCm39) |
Y90C |
probably damaging |
Het |
H60b |
C |
A |
10: 22,161,637 (GRCm39) |
H42N |
possibly damaging |
Het |
Hipk2 |
A |
G |
6: 38,680,569 (GRCm39) |
S924P |
probably benign |
Het |
Hpf1 |
C |
A |
8: 61,358,613 (GRCm39) |
S27* |
probably null |
Het |
Idua |
T |
G |
5: 108,829,388 (GRCm39) |
D443E |
probably benign |
Het |
Lamc2 |
C |
T |
1: 153,009,357 (GRCm39) |
G816D |
possibly damaging |
Het |
Lgi3 |
T |
A |
14: 70,768,551 (GRCm39) |
V16E |
unknown |
Het |
Lpar1 |
T |
A |
4: 58,486,795 (GRCm39) |
M159L |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,755,280 (GRCm39) |
D618G |
possibly damaging |
Het |
Man2b2 |
C |
G |
5: 36,967,658 (GRCm39) |
Q903H |
probably benign |
Het |
Marchf7 |
A |
T |
2: 60,065,334 (GRCm39) |
K537* |
probably null |
Het |
Mcoln1 |
T |
C |
8: 3,555,873 (GRCm39) |
F56S |
probably damaging |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,832,836 (GRCm39) |
M383K |
probably damaging |
Het |
Or12k7 |
A |
T |
2: 36,958,916 (GRCm39) |
T200S |
probably damaging |
Het |
Or1f19 |
T |
C |
16: 3,410,295 (GRCm39) |
F12L |
probably damaging |
Het |
Or8a1b |
T |
C |
9: 37,623,429 (GRCm39) |
I49V |
probably damaging |
Het |
Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
Pcdha8 |
A |
C |
18: 37,125,737 (GRCm39) |
D73A |
possibly damaging |
Het |
Pcdhga8 |
C |
T |
18: 37,860,102 (GRCm39) |
T386M |
possibly damaging |
Het |
Pdzd2 |
G |
T |
15: 12,407,422 (GRCm39) |
T346N |
probably damaging |
Het |
Pik3c2b |
A |
G |
1: 133,013,349 (GRCm39) |
Q781R |
probably damaging |
Het |
Pp2d1 |
T |
A |
17: 53,815,318 (GRCm39) |
T469S |
possibly damaging |
Het |
Sectm1a |
G |
A |
11: 120,959,631 (GRCm39) |
L166F |
probably damaging |
Het |
Sgms1 |
T |
A |
19: 32,120,169 (GRCm39) |
M246L |
probably benign |
Het |
Shroom3 |
G |
A |
5: 93,098,806 (GRCm39) |
G1429S |
probably benign |
Het |
Snx17 |
T |
A |
5: 31,352,804 (GRCm39) |
F101Y |
probably damaging |
Het |
Sowahb |
C |
T |
5: 93,191,240 (GRCm39) |
S493N |
probably benign |
Het |
Spc25 |
T |
A |
2: 69,036,481 (GRCm39) |
R7S |
unknown |
Het |
Sult2b1 |
A |
G |
7: 45,379,620 (GRCm39) |
I308T |
probably benign |
Het |
Tkt |
A |
G |
14: 30,280,763 (GRCm39) |
N65D |
probably benign |
Het |
Ttc5 |
A |
T |
14: 51,010,769 (GRCm39) |
S221T |
probably benign |
Het |
Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
Wipf1 |
A |
C |
2: 73,274,805 (GRCm39) |
S55R |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,344,530 (GRCm39) |
S970P |
possibly damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp362 |
A |
T |
4: 128,671,203 (GRCm39) |
H313Q |
probably benign |
Het |
Zfy2 |
T |
A |
Y: 2,121,420 (GRCm39) |
I158F |
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 |
|
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 |
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'- AGATGCTTTCCTTCCAGCTG -3'
(R):5'- AATCTAGAGACGTCGGGGAC -3'
Sequencing Primer
(F):5'- GACCTGTTCTTGACCTGCAG -3'
(R):5'- AGATATGCTGACTGCCCCAG -3'
|
Posted On |
2019-11-12 |