Incidental Mutation 'R9337:Col4a2'
ID |
707251 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9337 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11479346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 743
(L743P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: L743P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: L743P
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 |
|
Meta Mutation Damage Score |
0.0744 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (65/65) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Adad1 |
T |
C |
3: 37,139,247 (GRCm39) |
V439A |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
G |
A |
4: 140,338,624 (GRCm39) |
T46I |
probably damaging |
Het |
C3ar1 |
A |
G |
6: 122,827,278 (GRCm39) |
V313A |
probably benign |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Ccdc30 |
T |
A |
4: 119,190,920 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
Cept1 |
A |
G |
3: 106,412,575 (GRCm39) |
L299S |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,775,898 (GRCm39) |
L218P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
Cop1 |
T |
C |
1: 159,072,221 (GRCm39) |
V179A |
probably benign |
Het |
Cpvl |
A |
G |
6: 53,909,479 (GRCm39) |
I219T |
probably damaging |
Het |
Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,665,588 (GRCm39) |
F842L |
probably damaging |
Het |
Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,342,723 (GRCm39) |
A52V |
probably benign |
Het |
Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
Gm13283 |
T |
A |
4: 88,679,036 (GRCm39) |
V9E |
possibly damaging |
Het |
Gm17026 |
A |
G |
14: 42,080,873 (GRCm39) |
S58P |
|
Het |
Grm8 |
A |
T |
6: 27,761,214 (GRCm39) |
S337T |
probably benign |
Het |
Hdac5 |
G |
A |
11: 102,096,178 (GRCm39) |
P332S |
probably damaging |
Het |
Hr |
A |
T |
14: 70,797,324 (GRCm39) |
E519V |
probably benign |
Het |
Hspbap1 |
A |
G |
16: 35,645,395 (GRCm39) |
H360R |
probably benign |
Het |
Iqgap3 |
T |
G |
3: 88,023,425 (GRCm39) |
|
probably null |
Het |
Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
Lrrn4 |
A |
T |
2: 132,712,552 (GRCm39) |
S424T |
probably benign |
Het |
Lsm10 |
C |
A |
4: 125,991,660 (GRCm39) |
H5Q |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,394,252 (GRCm39) |
K459* |
probably null |
Het |
Myo15b |
A |
C |
11: 115,749,861 (GRCm39) |
K210N |
|
Het |
Or12e7 |
T |
A |
2: 87,287,527 (GRCm39) |
I6N |
probably benign |
Het |
Or8k38 |
T |
C |
2: 86,488,476 (GRCm39) |
T109A |
probably benign |
Het |
Park7 |
A |
T |
4: 150,991,553 (GRCm39) |
C46S |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
Pprc1 |
T |
A |
19: 46,052,198 (GRCm39) |
M576K |
unknown |
Het |
Prelid3b |
G |
A |
2: 174,310,161 (GRCm39) |
T74M |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,327,116 (GRCm39) |
Y311C |
probably damaging |
Het |
Prom2 |
A |
C |
2: 127,371,094 (GRCm39) |
V801G |
probably damaging |
Het |
Psmd9 |
T |
A |
5: 123,386,387 (GRCm39) |
V44D |
probably damaging |
Het |
Ptpn3 |
C |
G |
4: 57,218,521 (GRCm39) |
L647F |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,270,238 (GRCm39) |
D1286G |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,445,689 (GRCm39) |
I449T |
probably damaging |
Het |
Rev3l |
A |
T |
10: 39,698,850 (GRCm39) |
S1116C |
probably benign |
Het |
Rnf212 |
A |
T |
5: 108,922,755 (GRCm39) |
S32T |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
Rtf2 |
A |
T |
2: 172,308,205 (GRCm39) |
K201N |
probably damaging |
Het |
Runx3 |
A |
G |
4: 134,890,574 (GRCm39) |
T173A |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,086,678 (GRCm39) |
I827M |
probably benign |
Het |
Sec22b |
T |
C |
3: 97,828,494 (GRCm39) |
Y186H |
probably benign |
Het |
Serpina5 |
C |
T |
12: 104,071,542 (GRCm39) |
T383I |
possibly damaging |
Het |
Slc12a2 |
A |
G |
18: 58,063,238 (GRCm39) |
D906G |
probably damaging |
Het |
Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
Stat1 |
G |
T |
1: 52,191,429 (GRCm39) |
A595S |
probably benign |
Het |
Stat3 |
A |
T |
11: 100,798,815 (GRCm39) |
|
probably null |
Het |
Styxl1 |
T |
C |
5: 135,794,592 (GRCm39) |
S82G |
probably benign |
Het |
Taf1b |
T |
A |
12: 24,597,121 (GRCm39) |
D353E |
possibly damaging |
Het |
Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
Them5 |
A |
G |
3: 94,254,048 (GRCm39) |
M257V |
unknown |
Het |
Tln1 |
A |
T |
4: 43,532,927 (GRCm39) |
I2425N |
probably damaging |
Het |
Tuba8 |
A |
G |
6: 121,202,823 (GRCm39) |
S379G |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,024,957 (GRCm39) |
|
probably null |
Het |
Zbtb34 |
T |
C |
2: 33,301,716 (GRCm39) |
Y275C |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,799,274 (GRCm39) |
C214R |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,912,912 (GRCm39) |
V137A |
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 |
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 |
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'- TTACAGACACTGAGAGGCCC -3'
(R):5'- AGTGACTCACCTCTGAATCCCG -3'
Sequencing Primer
(F):5'- ACTGAGAGGCCCAGGTTCCTAG -3'
(R):5'- TGAATCCCGGTGCTCCTG -3'
|
Posted On |
2022-04-18 |