Incidental Mutation 'R7901:Col4a2'
| ID |
609993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a2
|
| Ensembl Gene |
ENSMUSG00000031503 |
| Gene Name |
collagen, type IV, alpha 2 |
| Synonyms |
Col4a-2 |
| MMRRC Submission |
045953-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7901 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11479358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 747
(D747V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
| AlphaFold |
P08122 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: D747V
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: D747V
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,119,434 (GRCm39) |
|
probably null |
Het |
| Adpgk |
T |
C |
9: 59,222,300 (GRCm39) |
V409A |
probably benign |
Het |
| Agfg2 |
A |
T |
5: 137,665,966 (GRCm39) |
F98I |
probably damaging |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Asb8 |
T |
C |
15: 98,040,614 (GRCm39) |
Y16C |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccnt1 |
A |
T |
15: 98,441,797 (GRCm39) |
D490E |
probably benign |
Het |
| Cenpf |
G |
T |
1: 189,389,445 (GRCm39) |
D1462E |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,095,202 (GRCm39) |
R736H |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,299,190 (GRCm39) |
E3126G |
unknown |
Het |
| Crybg3 |
T |
C |
16: 59,377,907 (GRCm39) |
T1116A |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,243,368 (GRCm39) |
L128Q |
probably damaging |
Het |
| Ddx17 |
A |
T |
15: 79,422,789 (GRCm39) |
D316E |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,017,712 (GRCm39) |
D681V |
possibly damaging |
Het |
| Ell2 |
A |
T |
13: 75,912,105 (GRCm39) |
K464* |
probably null |
Het |
| Eme1 |
G |
T |
11: 94,541,645 (GRCm39) |
P59Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,294,821 (GRCm39) |
S2P |
possibly damaging |
Het |
| Fndc9 |
T |
C |
11: 46,128,576 (GRCm39) |
Y32H |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,877,614 (GRCm39) |
T1321K |
probably benign |
Het |
| Gabrg2 |
A |
G |
11: 41,867,418 (GRCm39) |
V67A |
probably benign |
Het |
| Gm4553 |
ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG |
ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG |
7: 141,718,602 (GRCm39) |
|
probably benign |
Het |
| Gm5145 |
A |
C |
17: 20,790,900 (GRCm39) |
I93L |
possibly damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,758 (GRCm39) |
V240E |
probably damaging |
Het |
| Gsc |
T |
A |
12: 104,439,131 (GRCm39) |
S82C |
possibly damaging |
Het |
| H2-T10 |
C |
T |
17: 36,431,143 (GRCm39) |
E173K |
probably benign |
Het |
| Ifi213 |
A |
T |
1: 173,394,784 (GRCm39) |
S584T |
probably benign |
Het |
| Klk1b1 |
T |
C |
7: 43,620,669 (GRCm39) |
I253T |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,040,113 (GRCm39) |
L53P |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,216,722 (GRCm39) |
Y1697H |
probably benign |
Het |
| Mrs2 |
T |
A |
13: 25,202,549 (GRCm39) |
D64V |
possibly damaging |
Het |
| Muc13 |
A |
G |
16: 33,636,211 (GRCm39) |
Q565R |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,507,353 (GRCm39) |
V873A |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,145,926 (GRCm39) |
P159L |
possibly damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,898 (GRCm39) |
H171L |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,573 (GRCm39) |
S240T |
probably damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,887 (GRCm39) |
|
probably null |
Het |
| Phip |
T |
G |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Ppip5k1 |
T |
C |
2: 121,142,390 (GRCm39) |
Q1353R |
probably damaging |
Het |
| Ptprb |
C |
G |
10: 116,205,333 (GRCm39) |
P1896A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,154,799 (GRCm39) |
L601P |
possibly damaging |
Het |
| Sash1 |
C |
T |
10: 8,656,328 (GRCm39) |
W221* |
probably null |
Het |
| Skint1 |
A |
C |
4: 111,876,399 (GRCm39) |
T107P |
probably damaging |
Het |
| Slc45a4 |
G |
A |
15: 73,477,621 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,624 (GRCm39) |
D309E |
probably benign |
Het |
| Spcs1 |
A |
G |
14: 30,722,628 (GRCm39) |
Y64H |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,064,308 (GRCm39) |
Y2434N |
possibly damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,568,990 (GRCm39) |
E454G |
possibly damaging |
Het |
| Tsg101 |
G |
T |
7: 46,563,183 (GRCm39) |
Q24K |
probably benign |
Het |
| Ttc6 |
C |
T |
12: 57,735,353 (GRCm39) |
R1132W |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,437,627 (GRCm39) |
S200P |
probably damaging |
Het |
| Uts2r |
G |
A |
11: 121,052,234 (GRCm39) |
S366N |
probably benign |
Het |
| Wbp4 |
A |
T |
14: 79,709,845 (GRCm39) |
V130E |
probably damaging |
Het |
| Zfp592 |
T |
G |
7: 80,674,469 (GRCm39) |
S478A |
probably benign |
Het |
| Zfp664 |
A |
T |
5: 124,962,839 (GRCm39) |
K78* |
probably null |
Het |
| Zfp738 |
A |
T |
13: 67,821,110 (GRCm39) |
L79* |
probably null |
Het |
| Zfyve28 |
C |
T |
5: 34,382,326 (GRCm39) |
R258Q |
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 |
|
|
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'- TTTACAGACACTGAGAGGCCCAG -3'
(R):5'- AGTGACTCACCTCTGAATCCC -3'
Sequencing Primer
(F):5'- ACTGAGAGGCCCAGGTTCCTAG -3'
(R):5'- TGAATCCCGGTGCTCCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation