Incidental Mutation 'R3441:Vmn1r181'
| ID |
267379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r181
|
| Ensembl Gene |
ENSMUSG00000097425 |
| Gene Name |
vomeronasal 1 receptor 181 |
| Synonyms |
V1rd20 |
| MMRRC Submission |
040659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R3441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23683386-23684473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23684308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 258
(I258V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181796]
[ENSMUST00000226843]
[ENSMUST00000226978]
[ENSMUST00000227637]
[ENSMUST00000228399]
[ENSMUST00000228842]
|
| AlphaFold |
Q0P547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077386
AA Change: I258V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000076604
Gene: ENSMUSG00000057946
AA Change: I258V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
295 |
3.6e-12 |
PFAM |
|
Pfam:7tm_1
|
30 |
282 |
4.6e-7 |
PFAM |
|
Pfam:V1R
|
41 |
295 |
4.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181796
AA Change: I258V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137685
Gene: ENSMUSG00000097425
AA Change: I258V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
296 |
3.9e-9 |
PFAM |
|
Pfam:V1R
|
41 |
295 |
2.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226843
AA Change: I258V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226978
AA Change: I258V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227637
AA Change: I258V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228399
AA Change: I258V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228842
AA Change: I258V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228607
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
A |
G |
19: 5,620,011 (GRCm39) |
H477R |
probably benign |
Het |
| Asz1 |
A |
C |
6: 18,108,405 (GRCm39) |
S68A |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,292 (GRCm39) |
K413E |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
| Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
| Cyba |
C |
T |
8: 123,151,803 (GRCm39) |
W103* |
probably null |
Het |
| Epha4 |
G |
T |
1: 77,403,333 (GRCm39) |
N95K |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,071 (GRCm39) |
N4268S |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Hyal6 |
C |
T |
6: 24,734,592 (GRCm39) |
A175V |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,713 (GRCm39) |
T138A |
probably damaging |
Het |
| Mrc2 |
A |
T |
11: 105,238,542 (GRCm39) |
T1230S |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,789 (GRCm39) |
F1947S |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,162 (GRCm39) |
I44V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,706,872 (GRCm39) |
T555I |
probably benign |
Het |
| Rab21 |
CCCGCCGCCGCCGCCGCC |
CCCGCCGCCGCCGCC |
10: 115,151,214 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,645 (GRCm39) |
F318L |
probably damaging |
Het |
| Scgb2b24 |
G |
T |
7: 33,438,025 (GRCm39) |
F27L |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
| Teddm1b |
A |
G |
1: 153,751,007 (GRCm39) |
E272G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
| Tfpi2 |
A |
T |
6: 3,965,504 (GRCm39) |
Y103N |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,705,125 (GRCm39) |
N71S |
probably damaging |
Het |
|
| Other mutations in Vmn1r181 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Vmn1r181
|
APN |
7 |
23,684,006 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02055:Vmn1r181
|
APN |
7 |
23,683,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Vmn1r181
|
APN |
7 |
23,683,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Vmn1r181
|
APN |
7 |
23,684,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03026:Vmn1r181
|
APN |
7 |
23,684,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0255:Vmn1r181
|
UTSW |
7 |
23,683,759 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1481:Vmn1r181
|
UTSW |
7 |
23,684,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Vmn1r181
|
UTSW |
7 |
23,683,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2848:Vmn1r181
|
UTSW |
7 |
23,683,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2849:Vmn1r181
|
UTSW |
7 |
23,683,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3757:Vmn1r181
|
UTSW |
7 |
23,683,909 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3945:Vmn1r181
|
UTSW |
7 |
23,683,577 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3983:Vmn1r181
|
UTSW |
7 |
23,684,234 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4780:Vmn1r181
|
UTSW |
7 |
23,684,008 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4999:Vmn1r181
|
UTSW |
7 |
23,683,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5463:Vmn1r181
|
UTSW |
7 |
23,683,787 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5672:Vmn1r181
|
UTSW |
7 |
23,683,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Vmn1r181
|
UTSW |
7 |
23,683,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6316:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6317:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6324:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6326:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6988:Vmn1r181
|
UTSW |
7 |
23,684,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Vmn1r181
|
UTSW |
7 |
23,684,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7972:Vmn1r181
|
UTSW |
7 |
23,683,871 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8465:Vmn1r181
|
UTSW |
7 |
23,684,309 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9096:Vmn1r181
|
UTSW |
7 |
23,684,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9097:Vmn1r181
|
UTSW |
7 |
23,684,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Vmn1r181
|
UTSW |
7 |
23,684,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCGATTTGCCCATGATGC -3'
(R):5'- TAAAGCTGTCTTCTGTGCTCAG -3'
Sequencing Primer
(F):5'- ATGAGCATCATGGTCTGGAC -3'
(R):5'- CAGCATTTTTAGTGACTCTGGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation