Incidental Mutation 'R3757:Vmn1r181'
ID |
271480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r181
|
Ensembl Gene |
ENSMUSG00000097425 |
Gene Name |
vomeronasal 1 receptor 181 |
Synonyms |
V1rd20 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R3757 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23683386-23684473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23683909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 125
(L125F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154403
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181796]
[ENSMUST00000226843]
[ENSMUST00000226978]
[ENSMUST00000227637]
[ENSMUST00000228399]
[ENSMUST00000228842]
|
AlphaFold |
Q0P547 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077386
AA Change: L125F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076604 Gene: ENSMUSG00000057946 AA Change: L125F
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: L125F
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000137685 Gene: ENSMUSG00000097425 AA Change: L125F
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
8 |
296 |
3.9e-9 |
PFAM |
Pfam:V1R
|
41 |
295 |
2.7e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226843
AA Change: L125F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226978
AA Change: L125F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227637
AA Change: L125F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228399
AA Change: L125F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228842
AA Change: L125F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228531
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
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 |
R3441:Vmn1r181
|
UTSW |
7 |
23,684,308 (GRCm39) |
missense |
probably benign |
0.05 |
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'- ACATAGCTGTGGCCAATGC -3'
(R):5'- TGTGGCATCATGGGCAAATCG -3'
Sequencing Primer
(F):5'- AATGCCTTGACTCTCTTCATCACTAC -3'
(R):5'- GAAGACAATACCCACATTAAATCCAG -3'
|
Posted On |
2015-03-18 |