Incidental Mutation 'R7646:Col4a2'
| ID |
590544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a2
|
| Ensembl Gene |
ENSMUSG00000031503 |
| Gene Name |
collagen, type IV, alpha 2 |
| Synonyms |
Col4a-2 |
| MMRRC Submission |
045724-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7646 (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 11495086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1515
(F1515I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
| AlphaFold |
P08122 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: F1515I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: F1515I
| 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: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| 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 |
|---|
| Abca16 |
A |
G |
7: 120,113,937 (GRCm39) |
H936R |
probably benign |
Het |
| Afg3l1 |
C |
A |
8: 124,219,766 (GRCm39) |
D431E |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,279,811 (GRCm39) |
N120S |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,059,189 (GRCm39) |
D2557G |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,162,036 (GRCm39) |
Y359H |
probably damaging |
Het |
| Banp |
T |
C |
8: 122,750,775 (GRCm39) |
S489P |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,206,823 (GRCm39) |
C341R |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,140,931 (GRCm39) |
N3139S |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,521 (GRCm39) |
S1704R |
possibly damaging |
Het |
| Crocc |
T |
A |
4: 140,748,966 (GRCm39) |
Q1613L |
probably null |
Het |
| Cttnbp2 |
A |
T |
6: 18,375,939 (GRCm39) |
S1533R |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,636,976 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,868,651 (GRCm39) |
D362N |
probably benign |
Het |
| Elf5 |
G |
T |
2: 103,269,588 (GRCm39) |
K56N |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,560 (GRCm39) |
P508S |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,704 (GRCm39) |
H1055R |
probably benign |
Het |
| Fh1 |
C |
T |
1: 175,442,479 (GRCm39) |
V124I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,272,111 (GRCm39) |
D1610E |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,257 (GRCm39) |
K415E |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,361 (GRCm39) |
D496G |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,784,361 (GRCm39) |
I1342V |
probably benign |
Het |
| Hoxa7 |
A |
G |
6: 52,192,699 (GRCm39) |
*230Q |
probably null |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,542,281 (GRCm39) |
M271K |
possibly damaging |
Het |
| Klk1b22 |
T |
G |
7: 43,765,542 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
A |
11: 82,674,304 (GRCm39) |
N43K |
probably benign |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,360 (GRCm39) |
T83A |
possibly damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,498 (GRCm39) |
S2179T |
possibly damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,023,593 (GRCm39) |
S282L |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,774,527 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
C |
G |
7: 26,148,987 (GRCm39) |
A198G |
probably damaging |
Het |
| Nup98 |
A |
C |
7: 101,803,242 (GRCm39) |
S653A |
probably benign |
Het |
| Or12e8 |
A |
G |
2: 87,188,102 (GRCm39) |
I105V |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,864 (GRCm39) |
F13L |
probably damaging |
Het |
| Or14j10 |
G |
T |
17: 37,935,295 (GRCm39) |
T77K |
probably damaging |
Het |
| Or51ai2 |
G |
A |
7: 103,587,504 (GRCm39) |
A306T |
probably damaging |
Het |
| Or8k37 |
C |
A |
2: 86,469,513 (GRCm39) |
D180Y |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,570,909 (GRCm39) |
D98V |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,221 (GRCm39) |
D1000E |
probably benign |
Het |
| Polr3h |
A |
G |
15: 81,801,571 (GRCm39) |
Y131H |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,516,780 (GRCm39) |
I346V |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,301,436 (GRCm39) |
K332M |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,118,102 (GRCm39) |
M404V |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,428,744 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
A |
G |
9: 14,219,911 (GRCm39) |
D100G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,067,561 (GRCm39) |
I2388V |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,739 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
C |
T |
17: 57,366,759 (GRCm39) |
|
probably benign |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,154,344 (GRCm39) |
A76V |
probably damaging |
Het |
| Stradb |
A |
T |
1: 59,033,567 (GRCm39) |
D410V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,122,949 (GRCm39) |
D329G |
probably damaging |
Het |
| Syt4 |
A |
C |
18: 31,574,658 (GRCm39) |
S320A |
possibly damaging |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,733 (GRCm39) |
T141A |
possibly damaging |
Het |
| Trim34b |
G |
A |
7: 103,984,559 (GRCm39) |
A279T |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,845,325 (GRCm39) |
D1675V |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,169 (GRCm39) |
M832K |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
| Xkr6 |
G |
T |
14: 63,844,423 (GRCm39) |
D149Y |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,960,840 (GRCm39) |
Y477C |
probably damaging |
Het |
| Zfp37 |
T |
G |
4: 62,109,532 (GRCm39) |
I552L |
probably damaging |
Het |
| Zfp426 |
A |
T |
9: 20,381,320 (GRCm39) |
S556T |
probably damaging |
Het |
| Zfp954 |
G |
A |
7: 7,118,720 (GRCm39) |
L275F |
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 |
|
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 |
|
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'- GGGTTTCACAGCAGCTGAAC -3'
(R):5'- GGGTATAGTAAGATTTCTGTCTCCATG -3'
Sequencing Primer
(F):5'- GGTTTCACAGCAGCTGAACAATATC -3'
(R):5'- GTAAGATTTCTGTCTCCATGGCCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation