Incidental Mutation 'R5765:Vmn2r116'
| ID |
446247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
043366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23401404 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 704
(C704Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: C704Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: C704Y
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,153,240 (GRCm38) |
|
probably benign |
Het |
| 4833423E24Rik |
T |
G |
2: 85,484,194 (GRCm38) |
|
probably null |
Het |
| Abcf2 |
T |
C |
5: 24,573,423 (GRCm38) |
R246G |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,052,582 (GRCm38) |
C1176F |
probably damaging |
Het |
| Adh7 |
G |
A |
3: 138,226,329 (GRCm38) |
V235I |
probably benign |
Het |
| Caprin2 |
G |
C |
6: 148,843,168 (GRCm38) |
P701A |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,433,883 (GRCm38) |
V110A |
possibly damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,987,242 (GRCm38) |
M106L |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,529,815 (GRCm38) |
|
probably benign |
Het |
| Cpm |
A |
G |
10: 117,671,733 (GRCm38) |
I252V |
probably benign |
Het |
| Dnaaf2 |
A |
C |
12: 69,192,853 (GRCm38) |
I631M |
probably damaging |
Het |
| Doxl2 |
C |
T |
6: 48,978,537 (GRCm38) |
P694S |
probably damaging |
Het |
| Fam117b |
A |
G |
1: 59,970,472 (GRCm38) |
|
probably null |
Het |
| Fbxw22 |
T |
C |
9: 109,384,996 (GRCm38) |
M251V |
probably benign |
Het |
| Fignl1 |
T |
C |
11: 11,802,011 (GRCm38) |
|
probably null |
Het |
| Foxp1 |
G |
A |
6: 99,015,462 (GRCm38) |
L156F |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,161,426 (GRCm38) |
M332L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,272,443 (GRCm38) |
F265S |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,461,943 (GRCm38) |
A493V |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,666,140 (GRCm38) |
S359P |
probably damaging |
Het |
| Kif2b |
C |
T |
11: 91,577,242 (GRCm38) |
E72K |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,541,029 (GRCm38) |
S188P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,728,642 (GRCm38) |
L587Q |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,826,156 (GRCm38) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,863,163 (GRCm38) |
Y200C |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,464,726 (GRCm38) |
V458I |
possibly damaging |
Het |
| Nbea |
C |
T |
3: 56,005,298 (GRCm38) |
V1023I |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,291,847 (GRCm38) |
V2205D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,457,246 (GRCm38) |
D262G |
probably damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,504,165 (GRCm38) |
Y169H |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,090,319 (GRCm38) |
R62* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,663,661 (GRCm38) |
T573A |
probably benign |
Het |
| Plin4 |
C |
T |
17: 56,102,470 (GRCm38) |
C1276Y |
possibly damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,642,208 (GRCm38) |
R220L |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,000,236 (GRCm38) |
V775G |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,625,501 (GRCm38) |
T103A |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,429,404 (GRCm38) |
L404Q |
probably benign |
Het |
| Stradb |
C |
A |
1: 58,992,744 (GRCm38) |
H272N |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,633,627 (GRCm38) |
S397P |
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,666,130 (GRCm38) |
R126H |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,685,273 (GRCm38) |
Y158H |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,531,350 (GRCm38) |
I29N |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,859,841 (GRCm38) |
T484M |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,758,543 (GRCm38) |
I78V |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 86,919,406 (GRCm38) |
Y386C |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,424,095 (GRCm38) |
V26A |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 18,947,180 (GRCm38) |
Y565* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,170,527 (GRCm38) |
|
probably null |
Het |
| Zzef1 |
C |
T |
11: 72,821,937 (GRCm38) |
Q228* |
probably null |
Het |
|
| Other mutations in Vmn2r116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Vmn2r116
|
APN |
17 |
23,385,995 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00985:Vmn2r116
|
APN |
17 |
23,401,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,387,236 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,397,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01383:Vmn2r116
|
APN |
17 |
23,401,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01459:Vmn2r116
|
APN |
17 |
23,384,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Vmn2r116
|
APN |
17 |
23,386,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Vmn2r116
|
APN |
17 |
23,397,627 (GRCm38) |
splice site |
probably benign |
|
|
IGL02170:Vmn2r116
|
APN |
17 |
23,384,933 (GRCm38) |
missense |
probably benign |
|
|
IGL02209:Vmn2r116
|
APN |
17 |
23,388,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Vmn2r116
|
APN |
17 |
23,384,834 (GRCm38) |
missense |
probably null |
|
|
IGL02272:Vmn2r116
|
APN |
17 |
23,386,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,385,999 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02403:Vmn2r116
|
APN |
17 |
23,387,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02686:Vmn2r116
|
APN |
17 |
23,388,793 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02750:Vmn2r116
|
APN |
17 |
23,397,634 (GRCm38) |
splice site |
probably benign |
|
|
IGL02977:Vmn2r116
|
APN |
17 |
23,388,774 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,388,947 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0015:Vmn2r116
|
UTSW |
17 |
23,401,849 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0219:Vmn2r116
|
UTSW |
17 |
23,386,098 (GRCm38) |
nonsense |
probably null |
|
|
R0281:Vmn2r116
|
UTSW |
17 |
23,401,413 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0415:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0592:Vmn2r116
|
UTSW |
17 |
23,386,915 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0610:Vmn2r116
|
UTSW |
17 |
23,387,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Vmn2r116
|
UTSW |
17 |
23,386,887 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0843:Vmn2r116
|
UTSW |
17 |
23,400,960 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1329:Vmn2r116
|
UTSW |
17 |
23,387,188 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1396:Vmn2r116
|
UTSW |
17 |
23,386,141 (GRCm38) |
missense |
probably benign |
|
|
R1401:Vmn2r116
|
UTSW |
17 |
23,386,596 (GRCm38) |
splice site |
probably benign |
|
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Vmn2r116
|
UTSW |
17 |
23,401,766 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2157:Vmn2r116
|
UTSW |
17 |
23,401,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3622:Vmn2r116
|
UTSW |
17 |
23,386,051 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3690:Vmn2r116
|
UTSW |
17 |
23,384,824 (GRCm38) |
missense |
unknown |
|
|
R4298:Vmn2r116
|
UTSW |
17 |
23,401,827 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4373:Vmn2r116
|
UTSW |
17 |
23,401,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4860:Vmn2r116
|
UTSW |
17 |
23,401,803 (GRCm38) |
missense |
probably benign |
|
|
R4941:Vmn2r116
|
UTSW |
17 |
23,401,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5119:Vmn2r116
|
UTSW |
17 |
23,387,164 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5503:Vmn2r116
|
UTSW |
17 |
23,386,804 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5510:Vmn2r116
|
UTSW |
17 |
23,386,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,401,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5689:Vmn2r116
|
UTSW |
17 |
23,397,719 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5794:Vmn2r116
|
UTSW |
17 |
23,385,968 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5807:Vmn2r116
|
UTSW |
17 |
23,387,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,387,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6262:Vmn2r116
|
UTSW |
17 |
23,387,377 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6298:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Vmn2r116
|
UTSW |
17 |
23,388,831 (GRCm38) |
nonsense |
probably null |
|
|
R6667:Vmn2r116
|
UTSW |
17 |
23,401,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Vmn2r116
|
UTSW |
17 |
23,386,125 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7571:Vmn2r116
|
UTSW |
17 |
23,384,856 (GRCm38) |
splice site |
probably null |
|
|
R7940:Vmn2r116
|
UTSW |
17 |
23,386,972 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8510:Vmn2r116
|
UTSW |
17 |
23,385,931 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Vmn2r116
|
UTSW |
17 |
23,401,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8956:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,386,942 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9030:Vmn2r116
|
UTSW |
17 |
23,384,890 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9077:Vmn2r116
|
UTSW |
17 |
23,385,982 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9223:Vmn2r116
|
UTSW |
17 |
23,401,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn2r116
|
UTSW |
17 |
23,401,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9449:Vmn2r116
|
UTSW |
17 |
23,386,945 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9746:Vmn2r116
|
UTSW |
17 |
23,401,823 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9755:Vmn2r116
|
UTSW |
17 |
23,401,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9759:Vmn2r116
|
UTSW |
17 |
23,401,386 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9800:Vmn2r116
|
UTSW |
17 |
23,401,425 (GRCm38) |
missense |
probably damaging |
0.97 |
|
S24628:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
Z1176:Vmn2r116
|
UTSW |
17 |
23,401,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r116
|
UTSW |
17 |
23,388,892 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATCTTTGTGAAGCACCAC -3'
(R):5'- AGAGTGAAGCTCCCAAAGGC -3'
Sequencing Primer
(F):5'- TGTTAAGGCCAATAACAGAACTCTC -3'
(R):5'- GCTCCCAAAGGCCAGGATAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation