Incidental Mutation 'R6487:Vmn1r55'
| ID |
517476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r55
|
| Ensembl Gene |
ENSMUSG00000074402 |
| Gene Name |
vomeronasal 1 receptor 55 |
| Synonyms |
LOC384522, V1rd5, LOC236535 |
| MMRRC Submission |
044619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5149489-5150421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5149554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 290
(S290P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098844]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098844
AA Change: S290P
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000096443
Gene: ENSMUSG00000074402
AA Change: S290P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
286 |
3.7e-14 |
PFAM |
|
Pfam:7tm_1
|
20 |
279 |
4e-8 |
PFAM |
|
Pfam:V1R
|
31 |
286 |
5.5e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
| Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
| Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
| Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
| Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
| Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
| Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
| Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
| U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly damaging |
Het |
|
| Other mutations in Vmn1r55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1771:Vmn1r55
|
UTSW |
7 |
5,149,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2063:Vmn1r55
|
UTSW |
7 |
5,150,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2064:Vmn1r55
|
UTSW |
7 |
5,150,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2066:Vmn1r55
|
UTSW |
7 |
5,150,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2068:Vmn1r55
|
UTSW |
7 |
5,150,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3737:Vmn1r55
|
UTSW |
7 |
5,150,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4409:Vmn1r55
|
UTSW |
7 |
5,150,075 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4410:Vmn1r55
|
UTSW |
7 |
5,150,075 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4700:Vmn1r55
|
UTSW |
7 |
5,149,587 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4700:Vmn1r55
|
UTSW |
7 |
5,149,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Vmn1r55
|
UTSW |
7 |
5,150,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Vmn1r55
|
UTSW |
7 |
5,150,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5064:Vmn1r55
|
UTSW |
7 |
5,149,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Vmn1r55
|
UTSW |
7 |
5,149,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5394:Vmn1r55
|
UTSW |
7 |
5,149,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Vmn1r55
|
UTSW |
7 |
5,149,623 (GRCm39) |
missense |
probably benign |
|
|
R8204:Vmn1r55
|
UTSW |
7 |
5,150,285 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8376:Vmn1r55
|
UTSW |
7 |
5,149,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9586:Vmn1r55
|
UTSW |
7 |
5,149,770 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9688:Vmn1r55
|
UTSW |
7 |
5,149,669 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGAGCTGGTGGATGAAC -3'
(R):5'- AACAGAGGCCATGCTGAAAC -3'
Sequencing Primer
(F):5'- AGCTGGTGGATGAACTGGCTC -3'
(R):5'- ACACCATCCTGATGCTGGTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation