Incidental Mutation 'R1738:Col4a2'
| ID |
199870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a2
|
| Ensembl Gene |
ENSMUSG00000031503 |
| Gene Name |
collagen, type IV, alpha 2 |
| Synonyms |
Col4a-2 |
| MMRRC Submission |
039770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1738 (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 A
at 11496238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1620
(F1620I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
| AlphaFold |
P08122 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033899
AA Change: F1620I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: F1620I
| 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: ENSMUST00000146219
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.7%
- 20x: 89.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,682,475 (GRCm39) |
Y202C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
T |
G |
5: 81,535,826 (GRCm39) |
M155R |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,211,917 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,326,942 (GRCm39) |
G647D |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,772,820 (GRCm39) |
I291T |
probably benign |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,133 (GRCm39) |
D3307G |
unknown |
Het |
| Cby2 |
C |
T |
14: 75,830,497 (GRCm39) |
M1I |
probably null |
Het |
| Ces2h |
T |
A |
8: 105,745,697 (GRCm39) |
|
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,744,083 (GRCm39) |
E88G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,360,251 (GRCm39) |
D407G |
probably benign |
Het |
| Cpe |
A |
T |
8: 65,064,475 (GRCm39) |
F241L |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,936,493 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,504,034 (GRCm39) |
L179R |
possibly damaging |
Het |
| Dgki |
A |
G |
6: 37,034,367 (GRCm39) |
I361T |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,634,582 (GRCm39) |
V1298A |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,123,895 (GRCm39) |
I430F |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,764,842 (GRCm39) |
Y153C |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,802,318 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
C |
5: 105,474,510 (GRCm39) |
N389D |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,812,163 (GRCm39) |
V287A |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,732 (GRCm39) |
K36E |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,815,099 (GRCm39) |
|
probably null |
Het |
| Ino80d |
T |
C |
1: 63,132,624 (GRCm39) |
D13G |
probably damaging |
Het |
| Ipp |
G |
A |
4: 116,387,618 (GRCm39) |
V399I |
probably benign |
Het |
| Kank3 |
A |
T |
17: 34,036,168 (GRCm39) |
D12V |
probably damaging |
Het |
| Lcn12 |
A |
T |
2: 25,383,263 (GRCm39) |
S74R |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,237,200 (GRCm39) |
T637A |
probably benign |
Het |
| Nes |
C |
A |
3: 87,883,728 (GRCm39) |
Y662* |
probably null |
Het |
| Nudt13 |
A |
T |
14: 20,359,762 (GRCm39) |
H163L |
probably damaging |
Het |
| Or1j17 |
T |
C |
2: 36,578,797 (GRCm39) |
V261A |
probably benign |
Het |
| Or4a2 |
T |
C |
2: 89,248,362 (GRCm39) |
T132A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,671 (GRCm39) |
V27I |
probably benign |
Het |
| Or8k1 |
A |
T |
2: 86,048,060 (GRCm39) |
|
probably null |
Het |
| Pde6b |
C |
T |
5: 108,578,425 (GRCm39) |
R788* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,599,458 (GRCm39) |
L351P |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,295,525 (GRCm39) |
M942T |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,626,659 (GRCm39) |
D571E |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,125 (GRCm39) |
N470S |
possibly damaging |
Het |
| Primpol |
A |
G |
8: 47,060,873 (GRCm39) |
S82P |
probably damaging |
Het |
| Prkg1 |
T |
C |
19: 30,764,322 (GRCm39) |
D256G |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,374 (GRCm39) |
E2511G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,761,034 (GRCm39) |
I120T |
probably benign |
Het |
| Rfx4 |
G |
A |
10: 84,716,839 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
A |
T |
16: 23,746,423 (GRCm39) |
N69K |
probably benign |
Het |
| Sh3d19 |
A |
T |
3: 86,027,913 (GRCm39) |
I597F |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 42,001,261 (GRCm39) |
E246D |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,187,148 (GRCm39) |
I1094L |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,759,313 (GRCm39) |
H702L |
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,009,788 (GRCm39) |
D47G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,157 (GRCm39) |
Y1415C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,377 (GRCm39) |
F416Y |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,815 (GRCm39) |
S83P |
probably benign |
Het |
| Vtn |
A |
G |
11: 78,390,422 (GRCm39) |
D53G |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,190,723 (GRCm39) |
V456D |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,861,243 (GRCm39) |
P653L |
probably damaging |
Het |
| Ythdf1 |
G |
A |
2: 180,553,285 (GRCm39) |
A283V |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,312,373 (GRCm39) |
W80L |
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 |
|
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'- CAACGACAAGTCCTACTGGCTCTC -3'
(R):5'- TGAATGACAGCCTTCCACTCCTGC -3'
Sequencing Primer
(F):5'- ACTGGCTCTCCACCACG -3'
(R):5'- tcccactgtctgtctcctg -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation