Incidental Mutation 'R7185:Col4a2'
| ID |
559241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a2
|
| Ensembl Gene |
ENSMUSG00000031503 |
| Gene Name |
collagen, type IV, alpha 2 |
| Synonyms |
Col4a-2 |
| MMRRC Submission |
045237-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7185 (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 A
at 11449739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 117
(D117E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
| AlphaFold |
P08122 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033899
AA Change: D117E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: D117E
| 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 |
0.0746 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
A |
11: 117,725,599 (GRCm39) |
D95E |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,708,535 (GRCm39) |
E330G |
probably damaging |
Het |
| B3gat2 |
A |
C |
1: 23,802,272 (GRCm39) |
D186A |
probably damaging |
Het |
| Baz1a |
G |
A |
12: 55,022,093 (GRCm39) |
T63M |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,779 (GRCm39) |
M219K |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,609,975 (GRCm39) |
T65A |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,087,676 (GRCm39) |
E494G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,686 (GRCm39) |
L2198P |
probably damaging |
Het |
| Ddr2 |
C |
A |
1: 169,814,623 (GRCm39) |
V607L |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,849,857 (GRCm39) |
T93S |
probably benign |
Het |
| Eogt |
C |
T |
6: 97,097,139 (GRCm39) |
R321H |
probably damaging |
Het |
| Fam174c |
G |
A |
10: 80,008,963 (GRCm39) |
G55E |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,784,635 (GRCm39) |
S873P |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm8247 |
A |
G |
14: 44,823,859 (GRCm39) |
I182V |
|
Het |
| Gpatch2 |
T |
C |
1: 186,958,394 (GRCm39) |
S250P |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,244,859 (GRCm39) |
D183G |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,665,138 (GRCm39) |
V433A |
probably damaging |
Het |
| Igkv8-30 |
C |
A |
6: 70,094,590 (GRCm39) |
Q4H |
probably benign |
Het |
| Igkv8-30 |
T |
G |
6: 70,094,591 (GRCm39) |
Q4P |
probably damaging |
Het |
| Kcnj5 |
T |
G |
9: 32,233,472 (GRCm39) |
N281T |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,624,855 (GRCm39) |
E350G |
possibly damaging |
Het |
| Layn |
T |
C |
9: 50,985,173 (GRCm39) |
T128A |
possibly damaging |
Het |
| Liph |
T |
C |
16: 21,814,089 (GRCm39) |
M11V |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,691,524 (GRCm39) |
|
probably null |
Het |
| Mcrip1 |
A |
C |
11: 120,435,505 (GRCm39) |
|
probably null |
Het |
| Myh1 |
G |
A |
11: 67,098,285 (GRCm39) |
E486K |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,746 (GRCm39) |
K612R |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,846,621 (GRCm38) |
K245E |
probably benign |
Het |
| Nipal1 |
T |
A |
5: 72,824,198 (GRCm39) |
S181T |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,053 (GRCm39) |
L192R |
probably damaging |
Het |
| Nol7 |
G |
A |
13: 43,560,307 (GRCm39) |
|
probably null |
Het |
| Oas1b |
G |
A |
5: 120,955,837 (GRCm39) |
R205H |
not run |
Het |
| Or13j1 |
A |
G |
4: 43,706,082 (GRCm39) |
I162T |
possibly damaging |
Het |
| Or4f56 |
T |
G |
2: 111,704,167 (GRCm39) |
E11A |
possibly damaging |
Het |
| Or5w15 |
A |
G |
2: 87,568,489 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,701 (GRCm39) |
S470P |
probably benign |
Het |
| Pdzk1ip1 |
A |
T |
4: 114,946,305 (GRCm39) |
H55L |
possibly damaging |
Het |
| Pibf1 |
T |
A |
14: 99,344,752 (GRCm39) |
M124K |
possibly damaging |
Het |
| Prr36 |
C |
T |
8: 4,266,458 (GRCm39) |
G31R |
probably damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,814,079 (GRCm39) |
A660D |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,718 (GRCm39) |
V166A |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,308,607 (GRCm39) |
Y164F |
probably damaging |
Het |
| Rest |
C |
A |
5: 77,430,331 (GRCm39) |
H917N |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,425,073 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,315,024 (GRCm39) |
C955R |
|
Het |
| Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
| Sec11c |
T |
A |
18: 65,947,963 (GRCm39) |
D134E |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spo11 |
T |
A |
2: 172,823,985 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
C |
5: 76,301,419 (GRCm39) |
I216T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,864 (GRCm39) |
N296S |
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,984,643 (GRCm39) |
D259G |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,657,873 (GRCm39) |
S300N |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,396 (GRCm39) |
T15S |
probably benign |
Het |
| Uts2r |
T |
C |
11: 121,051,706 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r77 |
A |
C |
7: 86,451,035 (GRCm39) |
D307A |
probably benign |
Het |
| Xpa |
G |
T |
4: 46,183,078 (GRCm39) |
T237K |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,946,502 (GRCm39) |
C108S |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,735,164 (GRCm39) |
|
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,808,974 (GRCm39) |
D962E |
probably damaging |
Het |
| Zfp60 |
A |
G |
7: 27,437,830 (GRCm39) |
T46A |
probably damaging |
Het |
| Zfy1 |
G |
A |
Y: 725,464 (GRCm39) |
S767L |
possibly 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 |
|
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'- CTAGCTGGAGTCATGTGCTG -3'
(R):5'- TGTTTGTCGAGAATCCAGGAG -3'
Sequencing Primer
(F):5'- CACTTGGAGATCCTGGCTG -3'
(R):5'- GGAGAGAGAGTGCACTGAACACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation