Incidental Mutation 'R0603:Col4a2'
ID |
55551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col4a2
|
Ensembl Gene |
ENSMUSG00000031503 |
Gene Name |
collagen, type IV, alpha 2 |
Synonyms |
Col4a-2 |
MMRRC Submission |
038792-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0603 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11464779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 348
(V348A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
AlphaFold |
P08122 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033899
AA Change: V348A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033899 Gene: ENSMUSG00000031503 AA Change: V348A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145295
|
SMART Domains |
Protein: ENSMUSP00000114737 Gene: ENSMUSG00000031503
Domain | Start | End | E-Value | Type |
Pfam:Collagen
|
6 |
55 |
9.7e-8 |
PFAM |
Pfam:Collagen
|
81 |
140 |
4.4e-12 |
PFAM |
Pfam:Collagen
|
145 |
210 |
2.7e-8 |
PFAM |
Pfam:Collagen
|
184 |
239 |
2.9e-8 |
PFAM |
low complexity region
|
280 |
293 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148654
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc7 |
A |
G |
5: 122,578,233 (GRCm39) |
N406S |
probably benign |
Het |
Arhgap4 |
C |
T |
X: 72,950,389 (GRCm39) |
R54Q |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,556,556 (GRCm39) |
I17N |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,914,039 (GRCm39) |
|
probably null |
Het |
Caprin1 |
A |
G |
2: 103,627,146 (GRCm39) |
V47A |
probably benign |
Het |
Disp2 |
A |
G |
2: 118,622,487 (GRCm39) |
K1073R |
probably damaging |
Het |
Dmxl2 |
G |
A |
9: 54,313,190 (GRCm39) |
H1686Y |
possibly damaging |
Het |
Dzank1 |
C |
T |
2: 144,353,432 (GRCm39) |
V152I |
probably benign |
Het |
Elp1 |
A |
T |
4: 56,792,105 (GRCm39) |
I221N |
possibly damaging |
Het |
Evl |
T |
A |
12: 108,614,681 (GRCm39) |
I25N |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,271,699 (GRCm39) |
K424E |
probably damaging |
Het |
Gm17732 |
C |
T |
18: 62,795,823 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,820,480 (GRCm39) |
I659T |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,442,400 (GRCm39) |
V1280E |
possibly damaging |
Het |
Irs4 |
T |
C |
X: 140,508,071 (GRCm39) |
T42A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 117,999,708 (GRCm39) |
V905I |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,444,980 (GRCm39) |
|
probably benign |
Het |
Lsp1 |
G |
A |
7: 142,043,115 (GRCm39) |
R221H |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mmut |
A |
T |
17: 41,258,057 (GRCm39) |
I408F |
probably damaging |
Het |
Nckap1 |
A |
T |
2: 80,343,073 (GRCm39) |
V942E |
probably benign |
Het |
Neto1 |
T |
A |
18: 86,491,785 (GRCm39) |
C229S |
possibly damaging |
Het |
Nipal2 |
A |
G |
15: 34,650,544 (GRCm39) |
I63T |
probably damaging |
Het |
Or11g2 |
T |
C |
14: 50,855,967 (GRCm39) |
I96T |
probably damaging |
Het |
Or1af1 |
G |
A |
2: 37,110,118 (GRCm39) |
V206I |
probably damaging |
Het |
Or4k49 |
A |
T |
2: 111,495,225 (GRCm39) |
Y218F |
probably damaging |
Het |
Or7e165 |
A |
T |
9: 19,695,235 (GRCm39) |
R269W |
probably damaging |
Het |
Or8g36 |
C |
A |
9: 39,422,810 (GRCm39) |
V69F |
possibly damaging |
Het |
Pgpep1 |
T |
C |
8: 71,103,283 (GRCm39) |
E120G |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,397 (GRCm39) |
M3637K |
probably benign |
Het |
Pkm |
T |
C |
9: 59,573,164 (GRCm39) |
V58A |
probably damaging |
Het |
Ppp2r1b |
C |
A |
9: 50,772,985 (GRCm39) |
T154K |
probably damaging |
Het |
Rgs18 |
T |
A |
1: 144,631,818 (GRCm39) |
D98V |
possibly damaging |
Het |
Rsph6a |
G |
T |
7: 18,799,886 (GRCm39) |
A506S |
possibly damaging |
Het |
Selenop |
T |
A |
15: 3,305,183 (GRCm39) |
V113E |
probably damaging |
Het |
Slc6a11 |
G |
A |
6: 114,221,851 (GRCm39) |
V514M |
probably benign |
Het |
Srsf9 |
C |
T |
5: 115,470,696 (GRCm39) |
S132L |
probably damaging |
Het |
Tchh |
G |
A |
3: 93,351,088 (GRCm39) |
R176H |
possibly damaging |
Het |
Tcp11 |
T |
C |
17: 28,286,784 (GRCm39) |
N405S |
probably damaging |
Het |
Tle1 |
A |
C |
4: 72,036,584 (GRCm39) |
D760E |
probably damaging |
Het |
Tmem178 |
A |
G |
17: 81,252,488 (GRCm39) |
D124G |
possibly damaging |
Het |
Trabd |
G |
A |
15: 88,966,929 (GRCm39) |
E118K |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,283,499 (GRCm39) |
D115G |
probably damaging |
Het |
Uaca |
T |
A |
9: 60,778,379 (GRCm39) |
M920K |
possibly damaging |
Het |
Uba2 |
A |
T |
7: 33,861,038 (GRCm39) |
M5K |
probably damaging |
Het |
Unc5c |
C |
T |
3: 141,476,863 (GRCm39) |
P343L |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,501,043 (GRCm39) |
D453G |
probably damaging |
Het |
Wfdc8 |
A |
G |
2: 164,445,145 (GRCm39) |
Y157H |
probably damaging |
Het |
Zbbx |
T |
G |
3: 74,985,757 (GRCm39) |
K432Q |
probably benign |
Het |
Zeb2 |
G |
A |
2: 44,907,438 (GRCm39) |
T169M |
probably benign |
Het |
Zfp956 |
A |
G |
6: 47,932,962 (GRCm39) |
E79G |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,708,895 (GRCm39) |
V165I |
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 |
|
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 |
|
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'- TGCCACATTGTAGAGCTGTTGCC -3'
(R):5'- CCCTGTGCATCCCCTAGAAATGAAG -3'
Sequencing Primer
(F):5'- CTGTGCACTTCTGGGCAATA -3'
(R):5'- TTGCTCACAGATAGGGTCAC -3'
|
Posted On |
2013-07-11 |