Incidental Mutation 'R8331:Col4a2'
ID |
644373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
067860-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8331 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 11463985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 320
(R320*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033899
AA Change: R320*
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: R320*
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 |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
C |
A |
12: 84,650,726 (GRCm39) |
A545S |
probably damaging |
Het |
Alox12e |
A |
T |
11: 70,211,923 (GRCm39) |
S195R |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,539,653 (GRCm39) |
R69G |
probably damaging |
Het |
Apob |
A |
G |
12: 8,051,882 (GRCm39) |
Q1149R |
probably benign |
Het |
As3mt |
A |
T |
19: 46,697,445 (GRCm39) |
E71V |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,517,217 (GRCm39) |
V372E |
probably benign |
Het |
Bmal1 |
C |
A |
7: 112,912,703 (GRCm39) |
N586K |
probably benign |
Het |
Bmp2k |
T |
C |
5: 97,192,928 (GRCm39) |
F259S |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,607,290 (GRCm39) |
T1364A |
|
Het |
Casp7 |
T |
A |
19: 56,429,397 (GRCm39) |
I261N |
probably damaging |
Het |
Ccdc154 |
A |
G |
17: 25,386,927 (GRCm39) |
K319E |
probably benign |
Het |
Cdc42bpg |
C |
A |
19: 6,363,477 (GRCm39) |
L446I |
probably benign |
Het |
Cdkl3 |
A |
T |
11: 51,917,704 (GRCm39) |
T334S |
probably benign |
Het |
Cep250 |
T |
A |
2: 155,832,173 (GRCm39) |
L1366Q |
probably damaging |
Het |
Chp2 |
G |
A |
7: 121,821,133 (GRCm39) |
D165N |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,406,545 (GRCm39) |
M782K |
probably damaging |
Het |
Col20a1 |
T |
A |
2: 180,638,559 (GRCm39) |
I433N |
possibly damaging |
Het |
Ctsc |
A |
G |
7: 87,946,328 (GRCm39) |
H119R |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,345,053 (GRCm39) |
H2121R |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
D630045J12Rik |
T |
C |
6: 38,125,409 (GRCm39) |
E1535G |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,302,242 (GRCm39) |
D1887E |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,001,983 (GRCm39) |
E3903G |
probably benign |
Het |
Eif4a3l2 |
T |
C |
6: 116,529,323 (GRCm39) |
I400T |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,485,411 (GRCm39) |
S133P |
unknown |
Het |
Ercc3 |
T |
C |
18: 32,373,871 (GRCm39) |
S73P |
probably damaging |
Het |
Fis1 |
T |
C |
5: 136,991,987 (GRCm39) |
|
probably null |
Het |
Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
Gm17087 |
A |
G |
17: 8,785,539 (GRCm39) |
W55R |
probably damaging |
Het |
Gm3404 |
A |
T |
5: 146,462,759 (GRCm39) |
S41C |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,458,706 (GRCm39) |
S96P |
possibly damaging |
Het |
Irf3 |
C |
T |
7: 44,650,383 (GRCm39) |
P300S |
probably damaging |
Het |
Klk1b4 |
G |
A |
7: 43,860,999 (GRCm39) |
C214Y |
probably damaging |
Het |
Krtap5-3 |
T |
A |
7: 141,755,563 (GRCm39) |
C133* |
probably null |
Het |
Map3k12 |
T |
A |
15: 102,410,766 (GRCm39) |
R448* |
probably null |
Het |
Map4k2 |
C |
G |
19: 6,402,853 (GRCm39) |
A738G |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,428,827 (GRCm39) |
K730N |
probably damaging |
Het |
Mpp3 |
C |
T |
11: 101,902,541 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
A |
5: 65,964,943 (GRCm39) |
D997E |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,102,371 (GRCm39) |
P390S |
probably benign |
Het |
Nme8 |
A |
G |
13: 19,843,036 (GRCm39) |
S380P |
probably damaging |
Het |
Nup210 |
C |
T |
6: 91,030,648 (GRCm39) |
D878N |
possibly damaging |
Het |
Odad3 |
C |
T |
9: 21,903,007 (GRCm39) |
R441H |
probably damaging |
Het |
Or4k49 |
A |
G |
2: 111,494,727 (GRCm39) |
D52G |
possibly damaging |
Het |
Or8c18 |
A |
G |
9: 38,203,381 (GRCm39) |
I47V |
possibly damaging |
Het |
Osbpl9 |
C |
A |
4: 108,923,378 (GRCm39) |
W427L |
probably damaging |
Het |
Pcdhb12 |
T |
C |
18: 37,570,342 (GRCm39) |
V496A |
probably damaging |
Het |
Pdlim1 |
G |
A |
19: 40,218,995 (GRCm39) |
T212I |
possibly damaging |
Het |
Phc2 |
C |
T |
4: 128,605,987 (GRCm39) |
Q270* |
probably null |
Het |
Pi4kb |
G |
A |
3: 94,903,995 (GRCm39) |
R527Q |
probably null |
Het |
Platr25 |
G |
T |
13: 62,848,717 (GRCm39) |
H48Q |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,953,163 (GRCm39) |
T1577M |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,083,263 (GRCm39) |
V915M |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,480 (GRCm39) |
L928S |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,752,521 (GRCm39) |
N434S |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,140,545 (GRCm39) |
L246H |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,169,218 (GRCm39) |
C360S |
possibly damaging |
Het |
Stk10 |
A |
G |
11: 32,538,928 (GRCm39) |
T256A |
|
Het |
Tatdn3 |
A |
T |
1: 190,778,408 (GRCm39) |
L261Q |
probably damaging |
Het |
Thnsl1 |
T |
A |
2: 21,216,985 (GRCm39) |
F246L |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,471,157 (GRCm39) |
V487A |
|
Het |
Tmem41a |
A |
C |
16: 21,766,116 (GRCm39) |
|
probably null |
Het |
Togaram2 |
G |
A |
17: 72,036,221 (GRCm39) |
V924M |
probably damaging |
Het |
Trabd |
T |
C |
15: 88,969,131 (GRCm39) |
F185S |
probably damaging |
Het |
Traf1 |
T |
C |
2: 34,838,370 (GRCm39) |
D156G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,710,482 (GRCm39) |
E8513G |
unknown |
Het |
Txlna |
C |
A |
4: 129,533,279 (GRCm39) |
S83I |
probably damaging |
Het |
Utrn |
T |
G |
10: 12,490,363 (GRCm39) |
T6P |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,887 (GRCm39) |
S821T |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,509,702 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 119,930,794 (GRCm39) |
I917V |
probably benign |
Het |
Wscd2 |
A |
G |
5: 113,688,996 (GRCm39) |
M1V |
probably null |
Het |
Xkr6 |
A |
G |
14: 64,056,392 (GRCm39) |
H357R |
unknown |
Het |
Zfhx2 |
G |
T |
14: 55,309,444 (GRCm39) |
T885K |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,320,554 (GRCm39) |
E153K |
probably benign |
Het |
Zmynd11 |
A |
G |
13: 9,745,190 (GRCm39) |
M243T |
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 |
|
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'- ATCTGTGCATCCGAAATGAGG -3'
(R):5'- TAGCTACCCTGGATCACCTC -3'
Sequencing Primer
(F):5'- TGCATCCGAAATGAGGAAGGTG -3'
(R):5'- TCAGCCCTTAGGGTTAACCAC -3'
|
Posted On |
2020-09-02 |