Incidental Mutation 'R7266:Col4a2'
ID |
564932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
045389-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7266 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 11475542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
A |
8: 25,157,639 (GRCm39) |
I104F |
probably benign |
Het |
Adgrg7 |
C |
T |
16: 56,590,674 (GRCm39) |
V166I |
probably benign |
Het |
Agfg1 |
G |
T |
1: 82,859,966 (GRCm39) |
V278L |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,742,328 (GRCm39) |
E715G |
possibly damaging |
Het |
Ap2m1 |
A |
G |
16: 20,362,095 (GRCm39) |
Y401C |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,101,960 (GRCm39) |
S838N |
probably benign |
Het |
Ash2l |
A |
T |
8: 26,317,233 (GRCm39) |
Y373* |
probably null |
Het |
Best2 |
C |
T |
8: 85,734,393 (GRCm39) |
V442I |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,175,856 (GRCm39) |
D1619V |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,499,446 (GRCm39) |
N1272I |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,417,995 (GRCm39) |
*779C |
probably null |
Het |
Gm12216 |
G |
A |
11: 53,750,077 (GRCm39) |
|
probably benign |
Het |
Grm2 |
C |
T |
9: 106,524,370 (GRCm39) |
V311I |
|
Het |
Immt |
T |
A |
6: 71,851,689 (GRCm39) |
D683E |
probably benign |
Het |
Itga8 |
T |
G |
2: 12,237,712 (GRCm39) |
D336A |
probably damaging |
Het |
Jhy |
T |
C |
9: 40,872,453 (GRCm39) |
T19A |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,776,885 (GRCm39) |
M1V |
probably null |
Het |
Kctd17 |
A |
T |
15: 78,317,214 (GRCm39) |
I117F |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,484,364 (GRCm39) |
T420A |
probably damaging |
Het |
Manba |
T |
C |
3: 135,223,673 (GRCm39) |
S187P |
probably damaging |
Het |
Mef2b |
A |
T |
8: 70,616,938 (GRCm39) |
D13V |
probably damaging |
Het |
Mical2 |
T |
C |
7: 111,902,963 (GRCm39) |
F145L |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,922,497 (GRCm39) |
D551E |
possibly damaging |
Het |
Mplkipl1 |
A |
G |
19: 61,163,973 (GRCm39) |
V154A |
possibly damaging |
Het |
Myo10 |
C |
G |
15: 25,783,067 (GRCm39) |
R1170G |
probably damaging |
Het |
Myo16 |
A |
C |
8: 10,322,687 (GRCm39) |
Q39P |
unknown |
Het |
Myo1f |
A |
G |
17: 33,820,668 (GRCm39) |
E837G |
probably benign |
Het |
Nell2 |
T |
A |
15: 95,333,274 (GRCm39) |
I128F |
possibly damaging |
Het |
Or1i2 |
A |
G |
10: 78,448,448 (GRCm39) |
V9A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,215,222 (GRCm39) |
R659* |
probably null |
Het |
Pcdhga1 |
A |
G |
18: 37,973,028 (GRCm39) |
Q881R |
possibly damaging |
Het |
Plekhm2 |
T |
G |
4: 141,369,770 (GRCm39) |
E75A |
possibly damaging |
Het |
Prc1 |
A |
G |
7: 79,957,405 (GRCm39) |
K357E |
possibly damaging |
Het |
Pxk |
T |
A |
14: 8,146,220 (GRCm38) |
C377S |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,176,488 (GRCm39) |
E1696G |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,600,590 (GRCm39) |
S1532R |
unknown |
Het |
Scn5a |
G |
T |
9: 119,391,626 (GRCm39) |
A22E |
probably benign |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Siae |
T |
C |
9: 37,534,309 (GRCm39) |
V115A |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,344,107 (GRCm39) |
C563R |
probably benign |
Het |
Sntg1 |
A |
C |
1: 8,752,243 (GRCm39) |
V58G |
possibly damaging |
Het |
Snx11 |
C |
T |
11: 96,663,985 (GRCm39) |
V36M |
probably damaging |
Het |
Stk3 |
C |
A |
15: 34,959,182 (GRCm39) |
S330I |
probably benign |
Het |
Synpo |
A |
G |
18: 60,762,631 (GRCm39) |
F92S |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,057,924 (GRCm39) |
|
probably null |
Het |
Tmem117 |
A |
G |
15: 94,829,684 (GRCm39) |
D173G |
possibly damaging |
Het |
Tmem217b |
C |
A |
17: 29,738,347 (GRCm39) |
V140L |
probably benign |
Het |
Tmprss5 |
T |
C |
9: 49,025,841 (GRCm39) |
W338R |
probably benign |
Het |
Tnfrsf19 |
T |
C |
14: 61,212,147 (GRCm39) |
T168A |
possibly damaging |
Het |
Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
Trim56 |
G |
T |
5: 137,143,097 (GRCm39) |
Q140K |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,562,918 (GRCm39) |
V28679M |
probably damaging |
Het |
Ubxn8 |
G |
A |
8: 34,113,231 (GRCm39) |
R208C |
probably damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,482 (GRCm39) |
S694* |
probably null |
Het |
Wdr38 |
T |
A |
2: 38,890,276 (GRCm39) |
W137R |
probably damaging |
Het |
Zdhhc6 |
G |
T |
19: 55,292,932 (GRCm39) |
N271K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,575,744 (GRCm39) |
S446P |
possibly damaging |
Het |
Zmynd8 |
T |
C |
2: 165,649,492 (GRCm39) |
Q867R |
possibly damaging |
Het |
Zswim3 |
T |
C |
2: 164,662,402 (GRCm39) |
I294T |
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 |
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'- ATTCTCTTGCAGGGCGATG -3'
(R):5'- AGTTGTACATTACAGCTGCCC -3'
Sequencing Primer
(F):5'- TTGCAGGGCGATGGCATC -3'
(R):5'- TGCCCAGCAGAGAGGATG -3'
|
Posted On |
2019-06-26 |