Incidental Mutation 'R9755:Vmn2r116'
| ID |
732706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23620065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 600
(T600S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: T600S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: T600S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
4.4e-30 |
PFAM |
|
Pfam:NCD3G
|
511 |
564 |
1.2e-22 |
PFAM |
|
low complexity region
|
589 |
594 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
595 |
832 |
8.7e-57 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Female mice homozygous for a knock-out allele stimulated with male pheromone (Gm6084) fail to exhibit an increase in lordosis behavior and successful intromission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,889,292 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts9 |
T |
C |
6: 92,856,922 (GRCm39) |
R906G |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,216,418 (GRCm39) |
T534S |
probably benign |
Het |
| Amph |
A |
T |
13: 19,297,325 (GRCm39) |
D357V |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,227,926 (GRCm39) |
V452I |
possibly damaging |
Het |
| B4galnt2 |
G |
A |
11: 95,774,801 (GRCm39) |
Q160* |
probably null |
Het |
| C1galt1 |
T |
G |
6: 7,867,019 (GRCm39) |
N288K |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,559 (GRCm39) |
D967G |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,533,955 (GRCm39) |
E216K |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,243,712 (GRCm39) |
S45R |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,757,230 (GRCm39) |
M2216L |
unknown |
Het |
| Cfhr1 |
A |
G |
1: 139,487,889 (GRCm39) |
F3S |
probably benign |
Het |
| Csf2rb |
T |
G |
15: 78,232,824 (GRCm39) |
Y710* |
probably null |
Het |
| Dhh |
A |
G |
15: 98,792,939 (GRCm39) |
V107A |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,790,048 (GRCm39) |
T849S |
probably benign |
Het |
| Gnrh1 |
G |
A |
14: 67,986,699 (GRCm39) |
E78K |
possibly damaging |
Het |
| Golga3 |
A |
G |
5: 110,340,847 (GRCm39) |
T514A |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,803,879 (GRCm39) |
K393N |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,492,460 (GRCm39) |
Y844C |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,093,147 (GRCm39) |
H64L |
possibly damaging |
Het |
| Mak |
G |
T |
13: 41,199,623 (GRCm39) |
Q339K |
probably benign |
Het |
| Mdfic |
G |
T |
6: 15,799,758 (GRCm39) |
C295F |
probably damaging |
Het |
| Mdfic2 |
A |
T |
6: 98,225,147 (GRCm39) |
N45K |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Miip |
A |
T |
4: 147,950,319 (GRCm39) |
Y92* |
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,551,806 (GRCm39) |
S175T |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,549,374 (GRCm39) |
|
probably null |
Het |
| Ndnf |
T |
G |
6: 65,680,502 (GRCm39) |
D260E |
probably benign |
Het |
| Nphp1 |
G |
A |
2: 127,595,951 (GRCm39) |
Q505* |
probably null |
Het |
| Or12e7 |
C |
A |
2: 87,287,719 (GRCm39) |
A70E |
probably damaging |
Het |
| Or8g29-ps1 |
A |
G |
9: 39,200,970 (GRCm39) |
V72A |
possibly damaging |
Het |
| Plcg1 |
G |
A |
2: 160,573,780 (GRCm39) |
G15D |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,638,165 (GRCm39) |
Y145C |
probably damaging |
Het |
| Prickle2 |
C |
T |
6: 92,399,319 (GRCm39) |
C186Y |
probably damaging |
Het |
| Prmt6 |
A |
C |
3: 110,157,359 (GRCm39) |
L310R |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Sapcd1 |
A |
G |
17: 35,245,400 (GRCm39) |
S128P |
probably benign |
Het |
| Scart2 |
T |
A |
7: 139,841,544 (GRCm39) |
|
probably null |
Het |
| Sema3b |
T |
C |
9: 107,478,784 (GRCm39) |
S331G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skil |
A |
G |
3: 31,151,544 (GRCm39) |
E22G |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,134,407 (GRCm39) |
I159V |
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,136,331 (GRCm39) |
I41V |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,817,038 (GRCm39) |
F193L |
probably damaging |
Het |
| Taar8a |
A |
G |
10: 23,952,995 (GRCm39) |
I200V |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,223,215 (GRCm39) |
Y717C |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,722,055 (GRCm39) |
T1353A |
probably damaging |
Het |
| Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
possibly damaging |
Het |
|
| Other mutations in Vmn2r116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Vmn2r116
|
APN |
17 |
23,604,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00985:Vmn2r116
|
APN |
17 |
23,620,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,606,210 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,616,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Vmn2r116
|
APN |
17 |
23,620,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Vmn2r116
|
APN |
17 |
23,603,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Vmn2r116
|
APN |
17 |
23,605,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Vmn2r116
|
APN |
17 |
23,616,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL02170:Vmn2r116
|
APN |
17 |
23,603,907 (GRCm39) |
missense |
probably benign |
|
|
IGL02209:Vmn2r116
|
APN |
17 |
23,607,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Vmn2r116
|
APN |
17 |
23,603,808 (GRCm39) |
missense |
probably null |
|
|
IGL02272:Vmn2r116
|
APN |
17 |
23,604,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,604,973 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02403:Vmn2r116
|
APN |
17 |
23,606,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Vmn2r116
|
APN |
17 |
23,607,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Vmn2r116
|
APN |
17 |
23,616,608 (GRCm39) |
splice site |
probably benign |
|
|
IGL02977:Vmn2r116
|
APN |
17 |
23,607,748 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,607,921 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0015:Vmn2r116
|
UTSW |
17 |
23,620,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0219:Vmn2r116
|
UTSW |
17 |
23,605,072 (GRCm39) |
nonsense |
probably null |
|
|
R0281:Vmn2r116
|
UTSW |
17 |
23,620,387 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0415:Vmn2r116
|
UTSW |
17 |
23,606,253 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0592:Vmn2r116
|
UTSW |
17 |
23,605,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0610:Vmn2r116
|
UTSW |
17 |
23,606,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Vmn2r116
|
UTSW |
17 |
23,605,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0843:Vmn2r116
|
UTSW |
17 |
23,619,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1329:Vmn2r116
|
UTSW |
17 |
23,606,162 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1396:Vmn2r116
|
UTSW |
17 |
23,605,115 (GRCm39) |
missense |
probably benign |
|
|
R1401:Vmn2r116
|
UTSW |
17 |
23,605,570 (GRCm39) |
splice site |
probably benign |
|
|
R1574:Vmn2r116
|
UTSW |
17 |
23,606,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn2r116
|
UTSW |
17 |
23,606,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Vmn2r116
|
UTSW |
17 |
23,620,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2157:Vmn2r116
|
UTSW |
17 |
23,620,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Vmn2r116
|
UTSW |
17 |
23,605,025 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3690:Vmn2r116
|
UTSW |
17 |
23,603,798 (GRCm39) |
missense |
unknown |
|
|
R4298:Vmn2r116
|
UTSW |
17 |
23,620,801 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4373:Vmn2r116
|
UTSW |
17 |
23,620,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4860:Vmn2r116
|
UTSW |
17 |
23,620,777 (GRCm39) |
missense |
probably benign |
|
|
R4941:Vmn2r116
|
UTSW |
17 |
23,620,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Vmn2r116
|
UTSW |
17 |
23,606,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5503:Vmn2r116
|
UTSW |
17 |
23,605,778 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5510:Vmn2r116
|
UTSW |
17 |
23,605,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,620,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Vmn2r116
|
UTSW |
17 |
23,616,693 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5765:Vmn2r116
|
UTSW |
17 |
23,620,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5794:Vmn2r116
|
UTSW |
17 |
23,604,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5807:Vmn2r116
|
UTSW |
17 |
23,606,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,606,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Vmn2r116
|
UTSW |
17 |
23,606,351 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6298:Vmn2r116
|
UTSW |
17 |
23,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Vmn2r116
|
UTSW |
17 |
23,607,805 (GRCm39) |
nonsense |
probably null |
|
|
R6667:Vmn2r116
|
UTSW |
17 |
23,620,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Vmn2r116
|
UTSW |
17 |
23,605,099 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7571:Vmn2r116
|
UTSW |
17 |
23,603,830 (GRCm39) |
splice site |
probably null |
|
|
R7940:Vmn2r116
|
UTSW |
17 |
23,605,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8510:Vmn2r116
|
UTSW |
17 |
23,604,905 (GRCm39) |
nonsense |
probably null |
|
|
R8950:Vmn2r116
|
UTSW |
17 |
23,620,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Vmn2r116
|
UTSW |
17 |
23,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,605,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9030:Vmn2r116
|
UTSW |
17 |
23,603,864 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9077:Vmn2r116
|
UTSW |
17 |
23,604,956 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9223:Vmn2r116
|
UTSW |
17 |
23,620,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn2r116
|
UTSW |
17 |
23,620,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Vmn2r116
|
UTSW |
17 |
23,605,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9746:Vmn2r116
|
UTSW |
17 |
23,620,797 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9759:Vmn2r116
|
UTSW |
17 |
23,620,360 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9800:Vmn2r116
|
UTSW |
17 |
23,620,399 (GRCm39) |
missense |
probably damaging |
0.97 |
|
S24628:Vmn2r116
|
UTSW |
17 |
23,606,253 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1176:Vmn2r116
|
UTSW |
17 |
23,620,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r116
|
UTSW |
17 |
23,607,866 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCACTTCTTCTATATGCTG -3'
(R):5'- CCAAATGTGAGTTGTTGTAGAATGC -3'
Sequencing Primer
(F):5'- GCTGAGGCTGCACTAACAATATCTTC -3'
(R):5'- TGTAGAATGCAGGTGGCTGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation