Incidental Mutation 'R2993:Vmn2r55'
| ID |
257966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r55
|
| Ensembl Gene |
ENSMUSG00000091045 |
| Gene Name |
vomeronasal 2, receptor 55 |
| Synonyms |
|
| MMRRC Submission |
040528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R2993 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12385633-12422855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12418882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 13
(A13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167771]
[ENSMUST00000172743]
|
| AlphaFold |
A0A3B2W3J6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167771
AA Change: A13T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132834
Gene: ENSMUSG00000091045
AA Change: A13T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
398 |
6.1e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172743
AA Change: A13T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133483
Gene: ENSMUSG00000091045
AA Change: A13T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.4e-57 |
PFAM |
|
Pfam:7tm_3
|
525 |
762 |
3.7e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,372,184 (GRCm39) |
W67R |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,134,384 (GRCm39) |
V1377A |
probably damaging |
Het |
| Adarb2 |
A |
C |
13: 8,763,752 (GRCm39) |
I550L |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,111,262 (GRCm39) |
|
probably null |
Het |
| Ago1 |
G |
T |
4: 126,333,839 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdc7 |
G |
A |
5: 107,121,764 (GRCm39) |
V226I |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,427,017 (GRCm39) |
V206I |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,995,944 (GRCm39) |
R120L |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,542,713 (GRCm39) |
L2486F |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,905 (GRCm39) |
I372T |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,095,915 (GRCm39) |
|
probably null |
Het |
| Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,818,484 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,488,476 (GRCm39) |
V314A |
probably damaging |
Het |
| Gpr15lg |
T |
A |
14: 36,829,402 (GRCm39) |
H27L |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,721,997 (GRCm39) |
F32L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,317,011 (GRCm39) |
I56T |
probably damaging |
Het |
| Katnbl1 |
G |
T |
2: 112,238,963 (GRCm39) |
|
probably null |
Het |
| Klhdc4 |
G |
C |
8: 122,533,320 (GRCm39) |
S118* |
probably null |
Het |
| Klrb1-ps1 |
A |
T |
6: 129,097,992 (GRCm39) |
K73N |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,446,250 (GRCm39) |
D98G |
probably damaging |
Het |
| Lrrfip1 |
C |
A |
1: 91,032,956 (GRCm39) |
D313E |
probably damaging |
Het |
| Misp3 |
A |
G |
8: 84,738,213 (GRCm39) |
L34P |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,280,715 (GRCm39) |
R85H |
probably damaging |
Het |
| Mrpl16 |
A |
G |
19: 11,751,895 (GRCm39) |
I218M |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,823 (GRCm39) |
V553D |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,909 (GRCm39) |
D90E |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,472 (GRCm39) |
S16R |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,909 (GRCm39) |
V637A |
probably damaging |
Het |
|
| Other mutations in Vmn2r55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02684:Vmn2r55
|
APN |
7 |
12,404,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03035:Vmn2r55
|
APN |
7 |
12,404,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03115:Vmn2r55
|
APN |
7 |
12,404,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Vmn2r55
|
APN |
7 |
12,405,120 (GRCm39) |
splice site |
probably benign |
|
|
R0140:Vmn2r55
|
UTSW |
7 |
12,402,104 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0511:Vmn2r55
|
UTSW |
7 |
12,404,945 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1281:Vmn2r55
|
UTSW |
7 |
12,404,825 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1564:Vmn2r55
|
UTSW |
7 |
12,418,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Vmn2r55
|
UTSW |
7 |
12,386,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Vmn2r55
|
UTSW |
7 |
12,402,111 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2939:Vmn2r55
|
UTSW |
7 |
12,385,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Vmn2r55
|
UTSW |
7 |
12,404,634 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4272:Vmn2r55
|
UTSW |
7 |
12,402,106 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4589:Vmn2r55
|
UTSW |
7 |
12,404,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4624:Vmn2r55
|
UTSW |
7 |
12,404,627 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4965:Vmn2r55
|
UTSW |
7 |
12,404,478 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5294:Vmn2r55
|
UTSW |
7 |
12,385,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Vmn2r55
|
UTSW |
7 |
12,404,830 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5395:Vmn2r55
|
UTSW |
7 |
12,385,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Vmn2r55
|
UTSW |
7 |
12,385,871 (GRCm39) |
missense |
probably benign |
|
|
R5701:Vmn2r55
|
UTSW |
7 |
12,404,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5771:Vmn2r55
|
UTSW |
7 |
12,404,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Vmn2r55
|
UTSW |
7 |
12,404,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6148:Vmn2r55
|
UTSW |
7 |
12,402,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6159:Vmn2r55
|
UTSW |
7 |
12,385,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6541:Vmn2r55
|
UTSW |
7 |
12,404,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Vmn2r55
|
UTSW |
7 |
12,386,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7483:Vmn2r55
|
UTSW |
7 |
12,404,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8269:Vmn2r55
|
UTSW |
7 |
12,404,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8749:Vmn2r55
|
UTSW |
7 |
12,385,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Vmn2r55
|
UTSW |
7 |
12,405,024 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9049:Vmn2r55
|
UTSW |
7 |
12,418,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:Vmn2r55
|
UTSW |
7 |
12,385,793 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9344:Vmn2r55
|
UTSW |
7 |
12,385,782 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Vmn2r55
|
UTSW |
7 |
12,404,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Vmn2r55
|
UTSW |
7 |
12,402,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r55
|
UTSW |
7 |
12,405,106 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Vmn2r55
|
UTSW |
7 |
12,385,764 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACAGCCCCAGAAGTCTG -3'
(R):5'- CATGTACACATCTCTGCACAAG -3'
Sequencing Primer
(F):5'- GAAGACCGTGTGTCCCCAAC -3'
(R):5'- CATCTCTGCACAAGTGTTTGATGAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation