Incidental Mutation 'R4710:Col4a2'
ID |
353211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
042019-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4710 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 11459462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 299
(P299Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: P299Q
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: P299Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148654
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
99% (75/76) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,618,262 (GRCm39) |
Q185L |
probably benign |
Het |
Acaca |
T |
A |
11: 84,283,163 (GRCm39) |
I2243N |
possibly damaging |
Het |
Adamts18 |
A |
G |
8: 114,433,558 (GRCm39) |
S1059P |
probably damaging |
Het |
Aox4 |
A |
T |
1: 58,294,797 (GRCm39) |
K1002M |
probably damaging |
Het |
Ap1b1 |
A |
G |
11: 4,981,664 (GRCm39) |
Y524C |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
Cntn2 |
T |
A |
1: 132,455,963 (GRCm39) |
H185L |
possibly damaging |
Het |
Commd3 |
A |
G |
2: 18,679,093 (GRCm39) |
N106S |
probably benign |
Het |
Coro7 |
T |
G |
16: 4,452,797 (GRCm39) |
|
probably benign |
Het |
Ctf1 |
C |
A |
7: 127,316,252 (GRCm39) |
P66Q |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,441,898 (GRCm39) |
|
probably null |
Het |
Dnaaf3 |
A |
T |
7: 4,529,493 (GRCm39) |
L317Q |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,368,903 (GRCm39) |
L1667P |
probably damaging |
Het |
Dpp4 |
A |
G |
2: 62,190,659 (GRCm39) |
I399T |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Erg |
T |
C |
16: 95,190,893 (GRCm39) |
D90G |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
Gimd1 |
T |
C |
3: 132,340,609 (GRCm39) |
S42P |
possibly damaging |
Het |
Gm5526 |
T |
A |
1: 45,896,579 (GRCm39) |
|
noncoding transcript |
Het |
Gnl2 |
T |
A |
4: 124,947,252 (GRCm39) |
S625T |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,562,278 (GRCm39) |
E175G |
probably damaging |
Het |
Hmgxb3 |
G |
A |
18: 61,270,547 (GRCm39) |
P926S |
probably damaging |
Het |
Ifi213 |
G |
A |
1: 173,394,738 (GRCm39) |
|
probably benign |
Het |
Inhba |
T |
C |
13: 16,201,068 (GRCm39) |
V210A |
probably benign |
Het |
Kansl1l |
G |
A |
1: 66,840,655 (GRCm39) |
A215V |
possibly damaging |
Het |
Kcnk1 |
T |
A |
8: 126,756,267 (GRCm39) |
V263D |
probably damaging |
Het |
Kcnk9 |
A |
G |
15: 72,384,824 (GRCm39) |
I118T |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,332,582 (GRCm39) |
I283V |
probably benign |
Het |
Larp7-ps |
T |
C |
4: 92,079,212 (GRCm39) |
E203G |
possibly damaging |
Het |
Lias |
A |
G |
5: 65,555,070 (GRCm39) |
D88G |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,584,130 (GRCm39) |
V297M |
possibly damaging |
Het |
Maea |
C |
T |
5: 33,526,034 (GRCm39) |
R237C |
probably benign |
Het |
Mdfi |
T |
A |
17: 48,135,511 (GRCm39) |
N73I |
probably damaging |
Het |
Mphosph6 |
T |
A |
8: 118,528,641 (GRCm39) |
M1L |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,926,517 (GRCm39) |
I486N |
probably damaging |
Het |
Nbr1 |
C |
T |
11: 101,466,101 (GRCm39) |
P769L |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,262,594 (GRCm39) |
|
probably null |
Het |
Ndel1 |
A |
G |
11: 68,736,163 (GRCm39) |
Y26H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,150,610 (GRCm39) |
R2473G |
probably benign |
Het |
Or10ag53 |
T |
A |
2: 87,082,384 (GRCm39) |
D34E |
possibly damaging |
Het |
Or2t46 |
A |
T |
11: 58,472,548 (GRCm39) |
I293F |
probably damaging |
Het |
Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
Or5h19 |
T |
A |
16: 58,856,638 (GRCm39) |
H154L |
possibly damaging |
Het |
Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
Prkn |
A |
C |
17: 12,073,720 (GRCm39) |
Q346P |
possibly damaging |
Het |
Prrc2b |
T |
A |
2: 32,083,869 (GRCm39) |
S236R |
possibly damaging |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Rnf112 |
T |
C |
11: 61,340,657 (GRCm39) |
D491G |
probably damaging |
Het |
Rnf220 |
C |
T |
4: 117,146,411 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
G |
A |
2: 112,596,646 (GRCm39) |
L2483F |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,403,750 (GRCm39) |
N624S |
probably benign |
Het |
Sgms1 |
C |
T |
19: 32,137,537 (GRCm39) |
V10M |
probably damaging |
Het |
Slc23a2 |
T |
C |
2: 131,898,629 (GRCm39) |
N636S |
probably benign |
Het |
Slc25a48 |
C |
T |
13: 56,611,379 (GRCm39) |
T162I |
probably damaging |
Het |
Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,068,053 (GRCm39) |
L850P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sox18 |
A |
G |
2: 181,312,688 (GRCm39) |
Y148H |
probably damaging |
Het |
Stk-ps1 |
A |
G |
17: 36,708,562 (GRCm39) |
|
noncoding transcript |
Het |
Tas2r104 |
T |
A |
6: 131,662,407 (GRCm39) |
T101S |
probably damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,317,201 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
Zfat |
A |
T |
15: 68,052,131 (GRCm39) |
D554E |
probably benign |
Het |
Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACTAAGGGGCCTAGGAAG -3'
(R):5'- AAAACTTCAGCACCAGGGG -3'
Sequencing Primer
(F):5'- CCTAGGAAGGCTGCAGACTG -3'
(R):5'- CACATCTGAGAGATATCCCTGGTG -3'
|
Posted On |
2015-10-21 |