Incidental Mutation 'R4834:Col4a2'
| ID |
373068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a2
|
| Ensembl Gene |
ENSMUSG00000031503 |
| Gene Name |
collagen, type IV, alpha 2 |
| Synonyms |
Col4a-2 |
| MMRRC Submission |
041977-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4834 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
11362805-11499287 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 11456836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 236
(Y236*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033899]
|
| AlphaFold |
P08122 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033899
AA Change: Y236*
|
| SMART Domains |
Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: Y236*
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
C |
9: 53,343,787 (GRCm39) |
D146A |
possibly damaging |
Het |
| Acsl5 |
C |
A |
19: 55,268,991 (GRCm39) |
D217E |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,920,666 (GRCm39) |
|
probably null |
Het |
| Adam24 |
G |
A |
8: 41,132,738 (GRCm39) |
G69R |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,553,232 (GRCm39) |
W622R |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,469,530 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,679 (GRCm39) |
M931V |
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,936,939 (GRCm39) |
V187M |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,555,560 (GRCm39) |
C348S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,064,101 (GRCm39) |
V376A |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,870,130 (GRCm39) |
D925E |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,669,817 (GRCm39) |
V367E |
probably damaging |
Het |
| Bmp8b |
A |
T |
4: 123,016,843 (GRCm39) |
Q348L |
probably damaging |
Het |
| Ccr1l1 |
T |
C |
9: 123,777,742 (GRCm39) |
K235R |
probably damaging |
Het |
| Cd59a |
G |
A |
2: 103,944,431 (GRCm39) |
C93Y |
probably damaging |
Het |
| Clstn3 |
C |
T |
6: 124,408,912 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
T |
C |
5: 87,929,637 (GRCm39) |
F79L |
probably benign |
Het |
| Cyp4a10 |
A |
C |
4: 115,383,005 (GRCm39) |
Y360S |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,106,867 (GRCm39) |
I175F |
probably benign |
Het |
| Dck |
T |
A |
5: 88,920,595 (GRCm39) |
I105N |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,662,850 (GRCm39) |
L1577P |
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,622,985 (GRCm39) |
S1239N |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,536,892 (GRCm39) |
M1T |
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,317 (GRCm39) |
C50* |
probably null |
Het |
| Elf2 |
A |
T |
3: 51,184,642 (GRCm39) |
D14E |
probably damaging |
Het |
| Epm2aip1 |
C |
T |
9: 111,102,262 (GRCm39) |
R412C |
probably benign |
Het |
| Foxm1 |
T |
C |
6: 128,346,410 (GRCm39) |
F114L |
probably damaging |
Het |
| Glcci1 |
C |
T |
6: 8,582,601 (GRCm39) |
R134* |
probably null |
Het |
| Gm57859 |
C |
A |
11: 113,579,805 (GRCm39) |
T400K |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,040,581 (GRCm39) |
K576E |
probably damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,286 (GRCm39) |
K180E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,869,911 (GRCm39) |
V1439E |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,362 (GRCm39) |
S561P |
probably damaging |
Het |
| Hunk |
T |
C |
16: 90,293,086 (GRCm39) |
V456A |
probably benign |
Het |
| Il1rap |
T |
A |
16: 26,495,685 (GRCm39) |
D97E |
probably damaging |
Het |
| Inpp5d |
T |
G |
1: 87,625,245 (GRCm39) |
V474G |
possibly damaging |
Het |
| Itsn1 |
T |
A |
16: 91,703,677 (GRCm39) |
L87* |
probably null |
Het |
| Izumo3 |
T |
C |
4: 92,035,208 (GRCm39) |
D3G |
possibly damaging |
Het |
| Kifc2 |
T |
A |
15: 76,545,511 (GRCm39) |
M1K |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,907,256 (GRCm39) |
I276F |
probably damaging |
Het |
| Ksr2 |
C |
A |
5: 117,806,392 (GRCm39) |
Q402K |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,882,745 (GRCm39) |
V2606A |
probably benign |
Het |
| Met |
A |
G |
6: 17,491,412 (GRCm39) |
H58R |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,851,643 (GRCm39) |
Q542* |
probably null |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Msl3l2 |
C |
T |
10: 55,991,655 (GRCm39) |
R127C |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,967,814 (GRCm39) |
L588P |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,437,123 (GRCm39) |
L2013P |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,683,408 (GRCm39) |
Y1162C |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,232,113 (GRCm39) |
R1313L |
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,407,747 (GRCm39) |
V162A |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,229,596 (GRCm39) |
L1310P |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or14a259 |
G |
A |
7: 86,012,952 (GRCm39) |
L198F |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,839,276 (GRCm39) |
L85P |
probably damaging |
Het |
| Or5ae1 |
T |
G |
7: 84,565,491 (GRCm39) |
F168C |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,052,733 (GRCm39) |
L192* |
probably null |
Het |
| Pcdhga4 |
T |
C |
18: 37,818,490 (GRCm39) |
I13T |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,754,294 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,848,176 (GRCm39) |
V261D |
probably damaging |
Het |
| Ppp2r5b |
T |
A |
19: 6,280,540 (GRCm39) |
T313S |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,087,945 (GRCm39) |
|
probably null |
Het |
| Ptpn7 |
T |
A |
1: 135,065,618 (GRCm39) |
|
probably null |
Het |
| Rab11fip1 |
A |
G |
8: 27,643,111 (GRCm39) |
S563P |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,158,866 (GRCm39) |
C351* |
probably null |
Het |
| Slc10a5 |
A |
T |
3: 10,399,859 (GRCm39) |
V267D |
probably damaging |
Het |
| Slc37a2 |
T |
A |
9: 37,146,404 (GRCm39) |
M368L |
probably damaging |
Het |
| Slc49a4 |
T |
A |
16: 35,555,945 (GRCm39) |
T172S |
probably benign |
Het |
| Slc6a20b |
T |
A |
9: 123,425,113 (GRCm39) |
T585S |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,156,782 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
T |
C |
9: 87,609,502 (GRCm39) |
M178V |
possibly damaging |
Het |
| Tmprss11b |
C |
A |
5: 86,811,418 (GRCm39) |
C172F |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,751,198 (GRCm39) |
Q91R |
probably benign |
Het |
| Trappc8 |
A |
T |
18: 20,958,122 (GRCm39) |
Y1248N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,966,747 (GRCm39) |
L539S |
possibly damaging |
Het |
| Tyrp1 |
T |
A |
4: 80,764,833 (GRCm39) |
Y3* |
probably null |
Het |
| Ubr7 |
A |
T |
12: 102,727,761 (GRCm39) |
K94N |
probably damaging |
Het |
| Ugt2a1 |
C |
A |
5: 87,633,894 (GRCm39) |
|
probably null |
Het |
| Unc50 |
T |
A |
1: 37,471,710 (GRCm39) |
I120K |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,912,836 (GRCm39) |
V29A |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,317,002 (GRCm39) |
I1849T |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,203 (GRCm39) |
V406E |
probably damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,317,484 (GRCm39) |
R85W |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,750 (GRCm39) |
D2997G |
probably benign |
Het |
| Zc2hc1c |
A |
T |
12: 85,336,982 (GRCm39) |
E213V |
probably damaging |
Het |
| Zfp420 |
C |
T |
7: 29,573,759 (GRCm39) |
|
probably benign |
Het |
| Zfp641 |
C |
T |
15: 98,191,585 (GRCm39) |
E34K |
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 |
|
|
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'- TGGCCAAGTGCTAATGTGACAG -3'
(R):5'- TGCCCACCTAGACTGTTCAC -3'
Sequencing Primer
(F):5'- GTGACAGCACCCTTTCAGC -3'
(R):5'- ACAGTTTTGTCTTCCCTAATCCAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation