Incidental Mutation 'R1281:Vmn2r55'
| ID |
151025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r55
|
| Ensembl Gene |
ENSMUSG00000091045 |
| Gene Name |
vomeronasal 2, receptor 55 |
| Synonyms |
|
| MMRRC Submission |
039347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12385633-12422855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12404825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 193
(C193S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167771]
[ENSMUST00000172743]
|
| AlphaFold |
A0A3B2W3J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167771
AA Change: C193S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132834
Gene: ENSMUSG00000091045
AA Change: C193S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
398 |
6.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172743
AA Change: C193S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000133483
Gene: ENSMUSG00000091045
AA Change: C193S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.4e-57 |
PFAM |
|
Pfam:7tm_3
|
525 |
762 |
3.7e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
T |
1: 173,287,377 (GRCm39) |
K126* |
probably null |
Het |
| C9 |
A |
T |
15: 6,519,321 (GRCm39) |
N386I |
possibly damaging |
Het |
| Csnk1e |
A |
C |
15: 79,304,841 (GRCm39) |
N387K |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,822,460 (GRCm39) |
T1758A |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,500 (GRCm39) |
I256V |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,569 (GRCm39) |
C565Y |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,902,759 (GRCm39) |
H379R |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1c |
C |
A |
15: 101,721,727 (GRCm39) |
C438F |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,887,086 (GRCm39) |
T1001I |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,298,321 (GRCm39) |
F726L |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,812,980 (GRCm39) |
N550S |
possibly damaging |
Het |
| Necap1 |
G |
T |
6: 122,851,573 (GRCm39) |
D16Y |
possibly damaging |
Het |
| Nox3 |
A |
T |
17: 3,746,460 (GRCm39) |
I26N |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,304,932 (GRCm39) |
I262T |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,166 (GRCm39) |
E953G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,189 (GRCm39) |
C395S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,250 (GRCm39) |
I433M |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,602,055 (GRCm39) |
F552L |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,213,247 (GRCm39) |
N479S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
| Ube2n |
C |
A |
10: 95,377,618 (GRCm39) |
N132K |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,330,872 (GRCm39) |
C96R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,852 (GRCm39) |
V53E |
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 |
|
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 |
|
R2993:Vmn2r55
|
UTSW |
7 |
12,418,882 (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'- GCCAAATGTGCCTTGCAACACC -3'
(R):5'- ACCCAGTCTGAGTGACAAGATCCAG -3'
Sequencing Primer
(F):5'- CTTGCAACACCTGGGAAATG -3'
(R):5'- CTGAGTGACAAGATCCAGTTTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation