Incidental Mutation 'R9223:Vmn2r116'
| ID |
699623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
068959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9223 (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 23620141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 625
(Y625F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: Y625F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: Y625F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
C |
A |
9: 101,820,193 (GRCm39) |
D204E |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,156,037 (GRCm39) |
S80P |
probably benign |
Het |
| Bcl6b |
A |
T |
11: 70,117,400 (GRCm39) |
Y407* |
probably null |
Het |
| Ccn2 |
T |
C |
10: 24,471,856 (GRCm39) |
V49A |
probably benign |
Het |
| Cel |
TTA |
TTATA |
2: 28,449,441 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
T |
2: 79,171,674 (GRCm39) |
C395S |
probably damaging |
Het |
| Chst5 |
C |
A |
8: 112,617,492 (GRCm39) |
V43L |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,784,337 (GRCm39) |
F271I |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,484,411 (GRCm39) |
T1190A |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,648,528 (GRCm39) |
E938D |
probably damaging |
Het |
| Dmrta2 |
G |
A |
4: 109,839,779 (GRCm39) |
V509M |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,361,420 (GRCm39) |
M3440K |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,029,184 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
G |
7: 130,927,869 (GRCm39) |
S107P |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,149,358 (GRCm39) |
I708N |
probably benign |
Het |
| Fbxo11 |
A |
T |
17: 88,323,124 (GRCm39) |
D12E |
|
Het |
| Fbxw13 |
T |
C |
9: 109,024,116 (GRCm39) |
D39G |
probably damaging |
Het |
| Gabrb3 |
T |
G |
7: 57,466,152 (GRCm39) |
L322R |
probably damaging |
Het |
| Gm5239 |
A |
T |
18: 35,669,672 (GRCm39) |
I13F |
possibly damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,802 (GRCm39) |
Y375C |
probably benign |
Het |
| Helq |
A |
T |
5: 100,946,303 (GRCm39) |
S13T |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,918 (GRCm39) |
T514A |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,522,552 (GRCm39) |
V32A |
|
Het |
| Htra4 |
A |
G |
8: 25,527,048 (GRCm39) |
I249T |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,062,692 (GRCm39) |
V2809L |
probably benign |
Het |
| Ifi203 |
T |
A |
1: 173,765,437 (GRCm39) |
I46F |
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,306 (GRCm39) |
I296F |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,357 (GRCm39) |
E882G |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,071 (GRCm39) |
D444E |
probably benign |
Het |
| Lrrtm3 |
ATTTT |
ATTTTT |
10: 63,925,035 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
C |
T |
12: 66,615,634 (GRCm39) |
D658N |
possibly damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,183 (GRCm39) |
K316R |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,553,666 (GRCm39) |
C165Y |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,867 (GRCm39) |
F1843L |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,220,093 (GRCm39) |
R338Q |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,364,184 (GRCm39) |
R372H |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,202,599 (GRCm39) |
S1461Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,814,738 (GRCm39) |
V282D |
possibly damaging |
Het |
| Nup98 |
C |
A |
7: 101,834,167 (GRCm39) |
G265V |
possibly damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,911 (GRCm39) |
F260S |
probably damaging |
Het |
| Or2d3b |
A |
G |
7: 106,513,980 (GRCm39) |
T192A |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,442,012 (GRCm39) |
E24K |
possibly damaging |
Het |
| Or4f58 |
T |
A |
2: 111,851,517 (GRCm39) |
K227N |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,473 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8k18 |
G |
T |
2: 86,085,544 (GRCm39) |
F164L |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,690,205 (GRCm39) |
E888D |
probably damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,948,685 (GRCm39) |
I34V |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,807,376 (GRCm39) |
R417G |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,778 (GRCm39) |
S311G |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,812 (GRCm39) |
V105A |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,183,444 (GRCm39) |
D102G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,066,772 (GRCm39) |
I184V |
probably damaging |
Het |
| Spopfm2 |
A |
C |
3: 94,082,950 (GRCm39) |
L287R |
probably damaging |
Het |
| Tex35 |
A |
T |
1: 156,935,436 (GRCm39) |
C21S |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,282,649 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,897,998 (GRCm39) |
C607Y |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,963,166 (GRCm39) |
M395K |
probably benign |
Het |
| Trim43b |
A |
C |
9: 88,967,663 (GRCm39) |
H324Q |
probably benign |
Het |
| Yipf3 |
A |
T |
17: 46,559,798 (GRCm39) |
N38I |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,821,496 (GRCm39) |
E522D |
probably benign |
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 |
|
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'- GAATCACTGCATTCGTAAAGCTG -3'
(R):5'- TGGGAATGATGTAGTTAATTGCCC -3'
Sequencing Primer
(F):5'- CGTAAAGCTGTTGTATTTCTCAGC -3'
(R):5'- AAGTACTTCATCATTCTTTGGGAGGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation