Incidental Mutation 'R6849:Vmn2r95'
ID |
534943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r95
|
Ensembl Gene |
ENSMUSG00000091631 |
Gene Name |
vomeronasal 2, receptor 95 |
Synonyms |
|
MMRRC Submission |
044953-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6849 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18644366-18672586 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 18664182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 467
(C467F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166327]
[ENSMUST00000232090]
[ENSMUST00000232464]
|
AlphaFold |
A0A338P6T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166327
AA Change: C539F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126106 Gene: ENSMUSG00000091631 AA Change: C539F
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 |
probably damaging
Transcript: ENSMUST00000232090
AA Change: C539F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232464
AA Change: C467F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
Atosa |
A |
C |
9: 74,916,594 (GRCm39) |
N398H |
probably damaging |
Het |
Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,461,004 (GRCm39) |
D55E |
probably benign |
Het |
Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
Itk |
T |
C |
11: 46,222,762 (GRCm39) |
N563S |
probably damaging |
Het |
Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
Map4k3 |
A |
C |
17: 80,937,842 (GRCm39) |
|
probably null |
Het |
Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
Psd |
A |
G |
19: 46,306,185 (GRCm39) |
Y36H |
probably damaging |
Het |
Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmc3 |
T |
A |
7: 83,235,565 (GRCm39) |
I54K |
probably damaging |
Het |
Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
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 |
|
R6183:Vmn2r95
|
UTSW |
17 |
18,664,192 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
18,664,181 (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'- AAGATTTGTTAGCTACCCCAGTTCC -3'
(R):5'- TGAACTCTCTGAAGGGATAATGATGAG -3'
Sequencing Primer
(F):5'- TCCCCATCACTTTTTACTACAAATAC -3'
(R):5'- CTCACTTTCCCACAGATGTT -3'
|
Posted On |
2018-09-12 |