Incidental Mutation 'R5857:Col4a2'
ID |
454961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
044069-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5857 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 11475442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 622
(G622D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033899
AA Change: G622D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: G622D
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 |
|
Meta Mutation Damage Score |
0.9643 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
95% (55/58) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
Arhgap23 |
C |
T |
11: 97,342,405 (GRCm39) |
A229V |
possibly damaging |
Het |
Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
Ctnnbl1 |
T |
C |
2: 157,631,018 (GRCm39) |
S145P |
probably damaging |
Het |
Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
Disp3 |
A |
T |
4: 148,333,640 (GRCm39) |
V1066D |
probably benign |
Het |
Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
Nr3c2 |
A |
G |
8: 77,635,496 (GRCm39) |
N199S |
possibly damaging |
Het |
Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
Pabpc1l |
T |
A |
2: 163,886,175 (GRCm39) |
|
probably null |
Het |
Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,128,014 (GRCm39) |
Y946H |
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 |
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'- CAGCTGACCTGTTCTTGACCTG -3'
(R):5'- TGAATCTAGAGACGTCGGGG -3'
Sequencing Primer
(F):5'- TTGACCTGCAGCCCAGAATTC -3'
(R):5'- CGTCGGGGACACAGATATGC -3'
|
Posted On |
2017-02-10 |