Incidental Mutation 'R5646:Col4a2'
ID |
441160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
043294-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5646 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 11491281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 1227
(G1227R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033899
AA Change: G1227R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: G1227R
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: ENSMUST00000146219
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add1 |
C |
A |
5: 34,788,024 (GRCm39) |
A691D |
probably benign |
Het |
Agap3 |
C |
A |
5: 24,688,395 (GRCm39) |
D394E |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,591,793 (GRCm39) |
V59A |
possibly damaging |
Het |
Atp2a1 |
A |
G |
7: 126,052,277 (GRCm39) |
V402A |
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
Bsn |
A |
T |
9: 107,987,631 (GRCm39) |
|
probably benign |
Het |
Camk1 |
A |
G |
6: 113,316,301 (GRCm39) |
V81A |
probably damaging |
Het |
Cass4 |
T |
G |
2: 172,258,165 (GRCm39) |
C54W |
probably damaging |
Het |
Ccdc39 |
A |
T |
3: 33,879,699 (GRCm39) |
F456L |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,933,659 (GRCm39) |
E766G |
probably damaging |
Het |
Cdcp2 |
T |
C |
4: 106,962,339 (GRCm39) |
C171R |
probably damaging |
Het |
Cdh9 |
G |
A |
15: 16,823,371 (GRCm39) |
E118K |
probably damaging |
Het |
Cyp2d9 |
A |
G |
15: 82,336,665 (GRCm39) |
T5A |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,208,767 (GRCm39) |
D813V |
probably damaging |
Het |
Dmtf1 |
G |
A |
5: 9,174,515 (GRCm39) |
S405F |
possibly damaging |
Het |
Drd2 |
A |
G |
9: 49,316,212 (GRCm39) |
K324R |
probably benign |
Het |
Ergic1 |
T |
C |
17: 26,833,332 (GRCm39) |
S29P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,087,338 (GRCm39) |
|
probably benign |
Het |
Foxd2 |
C |
T |
4: 114,765,832 (GRCm39) |
A63T |
unknown |
Het |
Gfap |
T |
C |
11: 102,782,282 (GRCm39) |
I409M |
probably benign |
Het |
Gfpt1 |
A |
G |
6: 87,019,981 (GRCm39) |
M1V |
probably null |
Het |
H2-T23 |
C |
G |
17: 36,342,695 (GRCm39) |
E148Q |
possibly damaging |
Het |
Hip1 |
G |
A |
5: 135,457,595 (GRCm39) |
R704W |
probably damaging |
Het |
Kif19a |
A |
C |
11: 114,670,480 (GRCm39) |
D130A |
probably damaging |
Het |
Lin7b |
T |
C |
7: 45,018,617 (GRCm39) |
D14G |
probably damaging |
Het |
Meioc |
T |
A |
11: 102,566,083 (GRCm39) |
N510K |
possibly damaging |
Het |
Mettl5 |
C |
A |
2: 69,711,663 (GRCm39) |
G68* |
probably null |
Het |
Mitf |
A |
T |
6: 97,990,655 (GRCm39) |
I184F |
probably damaging |
Het |
Mmp9 |
T |
A |
2: 164,790,970 (GRCm39) |
H119Q |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,407,346 (GRCm39) |
H2768L |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,079,638 (GRCm39) |
I1032F |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,144,774 (GRCm39) |
I1110T |
probably damaging |
Het |
Nde1 |
T |
C |
16: 13,987,378 (GRCm39) |
F8L |
probably damaging |
Het |
Or10aa3 |
C |
T |
1: 173,878,853 (GRCm39) |
Q305* |
probably null |
Het |
Or2a25 |
A |
G |
6: 42,888,457 (GRCm39) |
|
probably null |
Het |
Or2h2b-ps1 |
T |
C |
17: 37,480,808 (GRCm39) |
I244V |
probably benign |
Het |
Or4f47 |
T |
C |
2: 111,973,028 (GRCm39) |
V246A |
possibly damaging |
Het |
Or51r1 |
A |
C |
7: 102,228,512 (GRCm39) |
Y270S |
possibly damaging |
Het |
Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
Or6c202 |
T |
C |
10: 128,996,706 (GRCm39) |
D49G |
possibly damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,859,823 (GRCm39) |
H293R |
probably benign |
Het |
Pde7a |
A |
T |
3: 19,287,937 (GRCm39) |
L244Q |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,045,910 (GRCm39) |
D340G |
probably benign |
Het |
Pfkfb4 |
A |
T |
9: 108,837,489 (GRCm39) |
I195F |
probably damaging |
Het |
Pik3c2a |
C |
A |
7: 116,005,186 (GRCm39) |
G361W |
probably damaging |
Het |
Prkcg |
T |
A |
7: 3,377,597 (GRCm39) |
M517K |
probably damaging |
Het |
Prob1 |
A |
T |
18: 35,787,167 (GRCm39) |
F362L |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,937 (GRCm39) |
W232* |
probably null |
Het |
Robo2 |
T |
C |
16: 73,758,707 (GRCm39) |
D688G |
probably damaging |
Het |
Sec24c |
C |
A |
14: 20,729,641 (GRCm39) |
A73E |
probably benign |
Het |
Slc15a3 |
A |
G |
19: 10,820,574 (GRCm39) |
N64D |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,811,782 (GRCm39) |
N65K |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,119,610 (GRCm39) |
S4467P |
probably damaging |
Het |
Sptb |
G |
T |
12: 76,634,215 (GRCm39) |
D2165E |
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,879,292 (GRCm39) |
|
noncoding transcript |
Het |
Syt12 |
A |
T |
19: 4,506,569 (GRCm39) |
M192K |
possibly damaging |
Het |
Tas2r107 |
A |
G |
6: 131,636,671 (GRCm39) |
V126A |
probably benign |
Het |
Thbs3 |
T |
C |
3: 89,126,405 (GRCm39) |
L242P |
probably damaging |
Het |
Timp2 |
A |
T |
11: 118,208,358 (GRCm39) |
|
probably null |
Het |
Tmtc1 |
G |
A |
6: 148,148,329 (GRCm39) |
A751V |
probably damaging |
Het |
Tnni2 |
A |
T |
7: 141,997,650 (GRCm39) |
D85V |
probably damaging |
Het |
Ttc39b |
G |
A |
4: 83,162,307 (GRCm39) |
P319L |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,622,805 (GRCm39) |
K68M |
probably damaging |
Het |
Usp25 |
G |
A |
16: 76,847,360 (GRCm39) |
R156Q |
probably benign |
Het |
Vill |
A |
T |
9: 118,900,230 (GRCm39) |
D365V |
probably damaging |
Het |
Vmn1r65 |
T |
A |
7: 6,012,223 (GRCm39) |
T4S |
probably benign |
Het |
Vmn2r76 |
C |
A |
7: 85,875,261 (GRCm39) |
C572F |
probably damaging |
Het |
Vps26a |
A |
C |
10: 62,304,077 (GRCm39) |
N181K |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,341,134 (GRCm39) |
L1125P |
probably damaging |
Het |
Zbtb41 |
T |
G |
1: 139,351,501 (GRCm39) |
S205A |
probably benign |
Het |
Zfp438 |
T |
C |
18: 5,214,526 (GRCm39) |
D144G |
probably benign |
Het |
Zfp600 |
T |
C |
4: 146,131,670 (GRCm39) |
S113P |
probably damaging |
Het |
Zfp84 |
C |
T |
7: 29,475,818 (GRCm39) |
T170M |
probably benign |
Het |
Zmiz2 |
T |
A |
11: 6,352,837 (GRCm39) |
D654E |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,957,739 (GRCm39) |
|
probably null |
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 |
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'- GAGTCTCAGATCCTACGATGCTG -3'
(R):5'- ACAAGCGAAGAGTTCATGGC -3'
Sequencing Primer
(F):5'- GATCCTACGATGCTGAGACCAG -3'
(R):5'- AGAGTTCATGGCCAAGGATTCTCC -3'
|
Posted On |
2016-11-08 |