Incidental Mutation 'R6183:Vmn2r95'
ID |
487644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r95
|
Ensembl Gene |
ENSMUSG00000091631 |
Gene Name |
vomeronasal 2, receptor 95 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6183 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18644366-18672586 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18664192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 470
(N470K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166327]
[ENSMUST00000232090]
[ENSMUST00000232464]
|
AlphaFold |
A0A338P6T0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166327
AA Change: N542K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126106 Gene: ENSMUSG00000091631 AA Change: N542K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
82 |
462 |
1.8e-35 |
PFAM |
Pfam:NCD3G
|
509 |
562 |
3.2e-20 |
PFAM |
Pfam:7tm_3
|
594 |
830 |
3.2e-51 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232090
AA Change: N542K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232464
AA Change: N470K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
possibly damaging |
Het |
|
Other mutations in Vmn2r95 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Vmn2r95
|
APN |
17 |
18,672,590 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01479:Vmn2r95
|
APN |
17 |
18,664,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01890:Vmn2r95
|
APN |
17 |
18,671,737 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01986:Vmn2r95
|
APN |
17 |
18,660,473 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02113:Vmn2r95
|
APN |
17 |
18,660,169 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02154:Vmn2r95
|
APN |
17 |
18,672,248 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02190:Vmn2r95
|
APN |
17 |
18,672,038 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02412:Vmn2r95
|
APN |
17 |
18,660,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Vmn2r95
|
APN |
17 |
18,671,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02679:Vmn2r95
|
APN |
17 |
18,664,116 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02691:Vmn2r95
|
APN |
17 |
18,672,120 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02990:Vmn2r95
|
APN |
17 |
18,672,298 (GRCm39) |
nonsense |
probably null |
|
IGL03032:Vmn2r95
|
APN |
17 |
18,672,575 (GRCm39) |
missense |
probably benign |
0.00 |
R0416:Vmn2r95
|
UTSW |
17 |
18,661,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R0448:Vmn2r95
|
UTSW |
17 |
18,672,005 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0514:Vmn2r95
|
UTSW |
17 |
18,671,844 (GRCm39) |
missense |
probably benign |
|
R0519:Vmn2r95
|
UTSW |
17 |
18,659,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Vmn2r95
|
UTSW |
17 |
18,672,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1501:Vmn2r95
|
UTSW |
17 |
18,660,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R1598:Vmn2r95
|
UTSW |
17 |
18,672,575 (GRCm39) |
missense |
probably benign |
0.03 |
R1613:Vmn2r95
|
UTSW |
17 |
18,660,901 (GRCm39) |
splice site |
probably benign |
|
R1861:Vmn2r95
|
UTSW |
17 |
18,672,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R1921:Vmn2r95
|
UTSW |
17 |
18,644,575 (GRCm39) |
missense |
probably benign |
0.11 |
R1986:Vmn2r95
|
UTSW |
17 |
18,671,805 (GRCm39) |
missense |
probably benign |
|
R2031:Vmn2r95
|
UTSW |
17 |
18,659,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2040:Vmn2r95
|
UTSW |
17 |
18,661,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R3608:Vmn2r95
|
UTSW |
17 |
18,660,235 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3727:Vmn2r95
|
UTSW |
17 |
18,661,744 (GRCm39) |
nonsense |
probably null |
|
R3953:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3955:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3957:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4474:Vmn2r95
|
UTSW |
17 |
18,672,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Vmn2r95
|
UTSW |
17 |
18,672,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R4850:Vmn2r95
|
UTSW |
17 |
18,671,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R5054:Vmn2r95
|
UTSW |
17 |
18,671,708 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5178:Vmn2r95
|
UTSW |
17 |
18,660,337 (GRCm39) |
missense |
probably benign |
0.01 |
R5980:Vmn2r95
|
UTSW |
17 |
18,661,624 (GRCm39) |
missense |
probably benign |
|
R6276:Vmn2r95
|
UTSW |
17 |
18,671,732 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6651:Vmn2r95
|
UTSW |
17 |
18,660,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6682:Vmn2r95
|
UTSW |
17 |
18,660,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R6797:Vmn2r95
|
UTSW |
17 |
18,672,551 (GRCm39) |
utr 3 prime |
probably benign |
|
R6799:Vmn2r95
|
UTSW |
17 |
18,659,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6849:Vmn2r95
|
UTSW |
17 |
18,664,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6849:Vmn2r95
|
UTSW |
17 |
18,664,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R6982:Vmn2r95
|
UTSW |
17 |
18,672,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Vmn2r95
|
UTSW |
17 |
18,661,577 (GRCm39) |
missense |
probably benign |
0.01 |
R7226:Vmn2r95
|
UTSW |
17 |
18,672,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7240:Vmn2r95
|
UTSW |
17 |
18,672,225 (GRCm39) |
missense |
probably benign |
0.15 |
R7383:Vmn2r95
|
UTSW |
17 |
18,660,734 (GRCm39) |
missense |
probably benign |
0.06 |
R7614:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
R7755:Vmn2r95
|
UTSW |
17 |
18,644,367 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R7942:Vmn2r95
|
UTSW |
17 |
18,660,529 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8355:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
R8455:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
R8478:Vmn2r95
|
UTSW |
17 |
18,672,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R8547:Vmn2r95
|
UTSW |
17 |
18,664,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R8752:Vmn2r95
|
UTSW |
17 |
18,661,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R8788:Vmn2r95
|
UTSW |
17 |
18,671,790 (GRCm39) |
missense |
probably benign |
0.09 |
R8852:Vmn2r95
|
UTSW |
17 |
18,664,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9098:Vmn2r95
|
UTSW |
17 |
18,660,167 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9202:Vmn2r95
|
UTSW |
17 |
18,644,394 (GRCm39) |
missense |
probably benign |
0.00 |
R9244:Vmn2r95
|
UTSW |
17 |
18,672,189 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9546:Vmn2r95
|
UTSW |
17 |
18,661,721 (GRCm39) |
missense |
probably benign |
0.01 |
R9665:Vmn2r95
|
UTSW |
17 |
18,660,607 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Vmn2r95
|
UTSW |
17 |
18,660,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGATTTGTTAGCTACCCCAGTTC -3'
(R):5'- ACTCTCTGAAGGGATAATGATGAG -3'
Sequencing Primer
(F):5'- TCCCCATCACTTTTTACTACAAATAC -3'
(R):5'- CTCACTTTCCCACAGATGTT -3'
|
Posted On |
2017-10-10 |