Incidental Mutation 'R5689:Vmn2r116'
| ID |
443600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
043322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23616693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 537
(H537R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164856
AA Change: H537R
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: H537R
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (63/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
T |
8: 89,051,412 (GRCm39) |
C844F |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,075,621 (GRCm39) |
V945A |
probably damaging |
Het |
| Aimp2 |
T |
C |
5: 143,843,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,888,501 (GRCm39) |
V924F |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Cfb |
T |
A |
17: 35,080,770 (GRCm39) |
T76S |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,519,766 (GRCm39) |
H139L |
probably benign |
Het |
| Cypt4 |
T |
C |
9: 24,536,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Dbx1 |
A |
G |
7: 49,282,519 (GRCm39) |
F229L |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,444,857 (GRCm39) |
V3949A |
possibly damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,017,716 (GRCm39) |
E6G |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,169,689 (GRCm39) |
V263F |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,959,088 (GRCm39) |
D403E |
probably benign |
Het |
| Evi5l |
C |
T |
8: 4,255,460 (GRCm39) |
Q542* |
probably null |
Het |
| Fam135a |
A |
G |
1: 24,068,134 (GRCm39) |
S12P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,591 (GRCm39) |
A458T |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,115 (GRCm39) |
V517A |
probably damaging |
Het |
| Galc |
G |
T |
12: 98,179,245 (GRCm39) |
H361N |
possibly damaging |
Het |
| Gask1a |
T |
C |
9: 121,794,754 (GRCm39) |
F303L |
probably damaging |
Het |
| Gcnt1 |
T |
A |
19: 17,306,768 (GRCm39) |
D319V |
probably damaging |
Het |
| Gm26996 |
T |
C |
6: 130,555,258 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5321 |
A |
T |
7: 6,022,268 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
T |
C |
10: 79,810,465 (GRCm39) |
L657P |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,803,981 (GRCm39) |
F54S |
probably damaging |
Het |
| Ilk |
C |
A |
7: 105,390,857 (GRCm39) |
L267I |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,285 (GRCm39) |
Y713C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,965,961 (GRCm39) |
V386E |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,023,764 (GRCm39) |
E587G |
probably damaging |
Het |
| Or10g3 |
C |
T |
14: 52,610,214 (GRCm39) |
V99M |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,171,728 (GRCm39) |
*173W |
probably null |
Het |
| Pcdhga7 |
C |
A |
18: 37,849,736 (GRCm39) |
P581H |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,599,683 (GRCm39) |
L2384* |
probably null |
Het |
| Phf12 |
T |
A |
11: 77,914,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,552,170 (GRCm39) |
T335A |
probably damaging |
Het |
| Polr3e |
C |
A |
7: 120,539,912 (GRCm39) |
T579K |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,045,515 (GRCm39) |
V164A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,866,269 (GRCm39) |
F43S |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,434,177 (GRCm38) |
I334F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,670,954 (GRCm39) |
Y167H |
probably damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,800 (GRCm39) |
T29A |
probably benign |
Het |
| Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,710 (GRCm39) |
M223I |
probably benign |
Het |
| Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
| Slitrk6 |
C |
T |
14: 110,989,558 (GRCm39) |
E50K |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,975,949 (GRCm39) |
F544S |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,571,063 (GRCm39) |
M444V |
possibly damaging |
Het |
| Trav7d-4 |
G |
A |
14: 53,007,651 (GRCm39) |
R48H |
probably damaging |
Het |
| Trim50 |
A |
T |
5: 135,382,516 (GRCm39) |
T123S |
probably damaging |
Het |
| Trpc4ap |
C |
G |
2: 155,512,955 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,618,620 (GRCm39) |
R14475S |
probably damaging |
Het |
| Uts2 |
A |
T |
4: 151,083,565 (GRCm39) |
T59S |
possibly damaging |
Het |
| Vmn1r52 |
T |
C |
6: 90,156,232 (GRCm39) |
S179P |
possibly damaging |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,311,360 (GRCm39) |
T445A |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,054 (GRCm39) |
V73A |
probably 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 |
|
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 |
|
R9755:Vmn2r116
|
UTSW |
17 |
23,620,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CACACAGGATGTTATCAGGTTTTC -3'
(R):5'- AGGACATACTAAGTCACCGTATTCG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GTCACCGTATTCGTATAATGACTAAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation