Incidental Mutation 'R8547:Col4a2'
ID |
659685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
068512-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8547 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 11479305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
[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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,616,474 (GRCm39) |
V972A |
probably benign |
Het |
Adamts14 |
T |
G |
10: 61,106,998 (GRCm39) |
T41P |
probably damaging |
Het |
Adamtsl3 |
C |
T |
7: 82,077,621 (GRCm39) |
T102I |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,264,109 (GRCm39) |
I366V |
probably null |
Het |
Aldh1a7 |
A |
G |
19: 20,692,067 (GRCm39) |
V242A |
possibly damaging |
Het |
Asxl3 |
T |
C |
18: 22,655,829 (GRCm39) |
S1280P |
probably benign |
Het |
Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,412,305 (GRCm39) |
W131R |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,345,725 (GRCm39) |
E957G |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,027,194 (GRCm39) |
D346V |
probably damaging |
Het |
Cd28 |
G |
A |
1: 60,785,681 (GRCm39) |
V17I |
probably benign |
Het |
Cfl2 |
A |
T |
12: 54,908,398 (GRCm39) |
L75* |
probably null |
Het |
Clspn |
T |
A |
4: 126,455,609 (GRCm39) |
L45H |
probably damaging |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Dgka |
A |
T |
10: 128,556,881 (GRCm39) |
I663N |
probably damaging |
Het |
Eppk1 |
C |
T |
15: 75,993,249 (GRCm39) |
V1211I |
probably benign |
Het |
Fam193b |
A |
G |
13: 55,698,117 (GRCm39) |
S280P |
probably damaging |
Het |
Fgd2 |
C |
T |
17: 29,583,934 (GRCm39) |
A116V |
probably damaging |
Het |
Fmo5 |
C |
A |
3: 97,558,811 (GRCm39) |
Q424K |
probably benign |
Het |
Fn3k |
T |
C |
11: 121,340,987 (GRCm39) |
L214P |
probably damaging |
Het |
Gm3404 |
A |
T |
5: 146,465,108 (GRCm39) |
R283W |
possibly damaging |
Het |
Gtdc1 |
A |
G |
2: 44,678,993 (GRCm39) |
|
probably benign |
Het |
Hepacam |
T |
C |
9: 37,279,049 (GRCm39) |
I26T |
probably benign |
Het |
Hltf |
T |
C |
3: 20,152,291 (GRCm39) |
F596L |
probably damaging |
Het |
Ipo7 |
T |
G |
7: 109,652,000 (GRCm39) |
D926E |
probably benign |
Het |
Krt16 |
G |
A |
11: 100,137,083 (GRCm39) |
Q463* |
probably null |
Het |
Lats1 |
T |
C |
10: 7,588,613 (GRCm39) |
F1077L |
probably damaging |
Het |
Lrrc69 |
T |
C |
4: 14,704,014 (GRCm39) |
I269V |
probably benign |
Het |
Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
Npbwr1 |
A |
T |
1: 5,987,446 (GRCm39) |
C23S |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 26,184,811 (GRCm39) |
C962R |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,583,391 (GRCm39) |
L435P |
probably damaging |
Het |
Or10d4c |
C |
T |
9: 39,558,798 (GRCm39) |
Q259* |
probably null |
Het |
Or1e23 |
T |
C |
11: 73,407,440 (GRCm39) |
N195S |
probably damaging |
Het |
Potegl |
A |
T |
2: 23,120,135 (GRCm39) |
Y177F |
probably damaging |
Het |
Psen1 |
T |
C |
12: 83,761,630 (GRCm39) |
V144A |
possibly damaging |
Het |
Psmg2 |
T |
A |
18: 67,779,077 (GRCm39) |
S82T |
possibly damaging |
Het |
Ptcd2 |
A |
C |
13: 99,469,462 (GRCm39) |
F154V |
probably damaging |
Het |
Ptchd4 |
A |
C |
17: 42,813,512 (GRCm39) |
D471A |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,315,674 (GRCm39) |
T309I |
possibly damaging |
Het |
Runx3 |
T |
C |
4: 134,898,455 (GRCm39) |
F209L |
probably damaging |
Het |
Setd1a |
T |
C |
7: 127,395,676 (GRCm39) |
|
probably benign |
Het |
Slc35g3 |
T |
C |
11: 69,652,446 (GRCm39) |
E22G |
probably benign |
Het |
Spag9 |
T |
A |
11: 94,013,647 (GRCm39) |
M1303K |
possibly damaging |
Het |
Ssh2 |
T |
A |
11: 77,340,533 (GRCm39) |
S562T |
probably benign |
Het |
Tiparp |
T |
C |
3: 65,453,798 (GRCm39) |
|
probably null |
Het |
Topbp1 |
C |
T |
9: 103,213,264 (GRCm39) |
P1028L |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,975,840 (GRCm39) |
L833Q |
possibly damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,261,311 (GRCm39) |
Y342C |
probably damaging |
Het |
Vmn2r95 |
G |
A |
17: 18,664,161 (GRCm39) |
C460Y |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,852,848 (GRCm39) |
I2376N |
probably damaging |
Het |
Zbtb21 |
C |
A |
16: 97,753,315 (GRCm39) |
A351S |
possibly damaging |
Het |
Zzef1 |
T |
G |
11: 72,735,267 (GRCm39) |
Y623D |
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 |
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 |
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'- GGTTTACAGACACTGAGAGGC -3'
(R):5'- TGACTCACCTCTGAATCCCG -3'
Sequencing Primer
(F):5'- ACTGAGAGGCCCAGGTTCCTAG -3'
(R):5'- TGAATCCCGGTGCTCCTG -3'
|
Posted On |
2021-01-18 |