Incidental Mutation 'R4578:Vmn2r16'
| ID |
343396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r16
|
| Ensembl Gene |
ENSMUSG00000092080 |
| Gene Name |
vomeronasal 2, receptor 16 |
| Synonyms |
EG384220 |
| MMRRC Submission |
041800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R4578 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
109478247-109512347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109511665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 624
(Y624F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165180]
|
| AlphaFold |
A0A3B2WCY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165180
AA Change: Y624F
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127838
Gene: ENSMUSG00000092080
AA Change: Y624F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
425 |
2.3e-28 |
PFAM |
|
Pfam:NCD3G
|
509 |
563 |
8.2e-19 |
PFAM |
|
Pfam:7tm_3
|
596 |
831 |
3.5e-56 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,537 (GRCm39) |
Y440* |
probably null |
Het |
| Aldh3b3 |
A |
T |
19: 4,014,832 (GRCm39) |
T110S |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,737,672 (GRCm39) |
T901A |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bfar |
A |
T |
16: 13,505,307 (GRCm39) |
I106F |
probably benign |
Het |
| Btbd10 |
T |
G |
7: 112,921,959 (GRCm39) |
I301L |
possibly damaging |
Het |
| Card14 |
G |
A |
11: 119,217,567 (GRCm39) |
R400H |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,849 (GRCm39) |
R202G |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Cmtm7 |
A |
C |
9: 114,592,351 (GRCm39) |
I82S |
probably benign |
Het |
| Cngb3 |
T |
A |
4: 19,425,613 (GRCm39) |
W474R |
probably damaging |
Het |
| Coq9 |
T |
C |
8: 95,580,234 (GRCm39) |
V285A |
probably benign |
Het |
| Cp |
A |
G |
3: 20,028,052 (GRCm39) |
E486G |
probably damaging |
Het |
| Crybg3 |
C |
T |
16: 59,350,564 (GRCm39) |
C892Y |
probably damaging |
Het |
| Cttn |
A |
T |
7: 144,008,453 (GRCm39) |
F176L |
probably damaging |
Het |
| Cytip |
T |
A |
2: 58,050,024 (GRCm39) |
N15I |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,477,492 (GRCm39) |
E634G |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,258 (GRCm39) |
E906G |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,817,369 (GRCm39) |
S735T |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,187,308 (GRCm39) |
V29E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Ftcd |
A |
C |
10: 76,425,092 (GRCm39) |
E524D |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,454,878 (GRCm39) |
M1V |
probably null |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Gsta4 |
A |
T |
9: 78,113,302 (GRCm39) |
R127S |
probably benign |
Het |
| Hcn2 |
G |
A |
10: 79,560,282 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,798,715 (GRCm39) |
V2135A |
probably damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,093 (GRCm39) |
D19G |
probably benign |
Het |
| Hydin |
A |
T |
8: 110,993,971 (GRCm39) |
T2S |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,489,747 (GRCm39) |
S97T |
possibly damaging |
Het |
| Igkv17-127 |
T |
C |
6: 67,838,183 (GRCm39) |
L14P |
unknown |
Het |
| Il17rb |
A |
G |
14: 29,724,356 (GRCm39) |
V166A |
probably damaging |
Het |
| Iqca1 |
T |
A |
1: 90,001,472 (GRCm39) |
I520F |
probably damaging |
Het |
| Kcnv2 |
G |
T |
19: 27,300,994 (GRCm39) |
V282L |
probably benign |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,763 (GRCm39) |
D684G |
probably benign |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,200,655 (GRCm39) |
Y124C |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh2 |
T |
A |
11: 67,064,084 (GRCm39) |
V48D |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,584,417 (GRCm39) |
M120T |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,336,585 (GRCm39) |
S1065P |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,264,596 (GRCm39) |
L78R |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Pomgnt2 |
G |
A |
9: 121,812,131 (GRCm39) |
R217C |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,339,050 (GRCm39) |
E285G |
probably benign |
Het |
| Sclt1 |
G |
A |
3: 41,625,900 (GRCm39) |
Q356* |
probably null |
Het |
| Scn2b |
T |
C |
9: 45,037,460 (GRCm39) |
F169S |
possibly damaging |
Het |
| Sfta2 |
C |
T |
17: 35,960,775 (GRCm39) |
|
probably benign |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Sspo |
A |
C |
6: 48,440,307 (GRCm39) |
D1541A |
possibly damaging |
Het |
| Strc |
G |
A |
2: 121,208,484 (GRCm39) |
L296F |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Taf6l |
C |
A |
19: 8,761,335 (GRCm39) |
R10L |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,820,841 (GRCm39) |
R617L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,444 (GRCm39) |
R1471G |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,067,100 (GRCm39) |
L1714P |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,984,565 (GRCm39) |
M442K |
probably benign |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,617 (GRCm39) |
H407Q |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,659,474 (GRCm39) |
D1684E |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,242,550 (GRCm39) |
M380V |
probably benign |
Het |
|
| Other mutations in Vmn2r16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01116:Vmn2r16
|
APN |
5 |
109,488,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Vmn2r16
|
APN |
5 |
109,478,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01391:Vmn2r16
|
APN |
5 |
109,511,627 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01419:Vmn2r16
|
APN |
5 |
109,510,267 (GRCm39) |
splice site |
probably benign |
|
|
IGL01634:Vmn2r16
|
APN |
5 |
109,488,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01845:Vmn2r16
|
APN |
5 |
109,511,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01875:Vmn2r16
|
APN |
5 |
109,478,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01910:Vmn2r16
|
APN |
5 |
109,487,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Vmn2r16
|
APN |
5 |
109,487,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02327:Vmn2r16
|
APN |
5 |
109,487,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02491:Vmn2r16
|
APN |
5 |
109,487,703 (GRCm39) |
nonsense |
probably null |
|
|
IGL02531:Vmn2r16
|
APN |
5 |
109,488,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02680:Vmn2r16
|
APN |
5 |
109,487,948 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02884:Vmn2r16
|
APN |
5 |
109,508,757 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03084:Vmn2r16
|
APN |
5 |
109,478,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03096:Vmn2r16
|
APN |
5 |
109,487,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03355:Vmn2r16
|
APN |
5 |
109,511,580 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0280:Vmn2r16
|
UTSW |
5 |
109,488,005 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0594:Vmn2r16
|
UTSW |
5 |
109,511,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Vmn2r16
|
UTSW |
5 |
109,487,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Vmn2r16
|
UTSW |
5 |
109,487,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1248:Vmn2r16
|
UTSW |
5 |
109,508,643 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1626:Vmn2r16
|
UTSW |
5 |
109,511,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Vmn2r16
|
UTSW |
5 |
109,511,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1929:Vmn2r16
|
UTSW |
5 |
109,487,124 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1982:Vmn2r16
|
UTSW |
5 |
109,511,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3038:Vmn2r16
|
UTSW |
5 |
109,487,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3437:Vmn2r16
|
UTSW |
5 |
109,478,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3734:Vmn2r16
|
UTSW |
5 |
109,478,280 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3820:Vmn2r16
|
UTSW |
5 |
109,510,143 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3873:Vmn2r16
|
UTSW |
5 |
109,488,177 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4165:Vmn2r16
|
UTSW |
5 |
109,478,427 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4373:Vmn2r16
|
UTSW |
5 |
109,511,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Vmn2r16
|
UTSW |
5 |
109,511,665 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4576:Vmn2r16
|
UTSW |
5 |
109,511,665 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4637:Vmn2r16
|
UTSW |
5 |
109,478,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4696:Vmn2r16
|
UTSW |
5 |
109,487,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5026:Vmn2r16
|
UTSW |
5 |
109,508,722 (GRCm39) |
nonsense |
probably null |
|
|
R5180:Vmn2r16
|
UTSW |
5 |
109,478,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5433:Vmn2r16
|
UTSW |
5 |
109,511,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Vmn2r16
|
UTSW |
5 |
109,511,613 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5958:Vmn2r16
|
UTSW |
5 |
109,510,153 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6353:Vmn2r16
|
UTSW |
5 |
109,488,119 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6389:Vmn2r16
|
UTSW |
5 |
109,478,344 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6819:Vmn2r16
|
UTSW |
5 |
109,488,412 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6994:Vmn2r16
|
UTSW |
5 |
109,487,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Vmn2r16
|
UTSW |
5 |
109,511,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7063:Vmn2r16
|
UTSW |
5 |
109,511,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Vmn2r16
|
UTSW |
5 |
109,508,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7268:Vmn2r16
|
UTSW |
5 |
109,488,331 (GRCm39) |
nonsense |
probably null |
|
|
R7420:Vmn2r16
|
UTSW |
5 |
109,511,736 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7591:Vmn2r16
|
UTSW |
5 |
109,510,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7644:Vmn2r16
|
UTSW |
5 |
109,487,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Vmn2r16
|
UTSW |
5 |
109,487,705 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7977:Vmn2r16
|
UTSW |
5 |
109,488,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Vmn2r16
|
UTSW |
5 |
109,488,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8023:Vmn2r16
|
UTSW |
5 |
109,488,272 (GRCm39) |
nonsense |
probably null |
|
|
R8427:Vmn2r16
|
UTSW |
5 |
109,488,138 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8436:Vmn2r16
|
UTSW |
5 |
109,511,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8475:Vmn2r16
|
UTSW |
5 |
109,487,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8554:Vmn2r16
|
UTSW |
5 |
109,511,997 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8771:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774-TAIL:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8777:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8777-TAIL:Vmn2r16
|
UTSW |
5 |
109,488,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8825:Vmn2r16
|
UTSW |
5 |
109,487,019 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8865:Vmn2r16
|
UTSW |
5 |
109,487,910 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8900:Vmn2r16
|
UTSW |
5 |
109,511,619 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9365:Vmn2r16
|
UTSW |
5 |
109,488,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9683:Vmn2r16
|
UTSW |
5 |
109,511,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Vmn2r16
|
UTSW |
5 |
109,487,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Vmn2r16
|
UTSW |
5 |
109,511,779 (GRCm39) |
frame shift |
probably null |
|
|
Z1088:Vmn2r16
|
UTSW |
5 |
109,488,381 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Vmn2r16
|
UTSW |
5 |
109,487,864 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGAGCAGATATGGAGCAGTGTG -3'
(R):5'- GCTTGAAAGCCATGACCACAG -3'
Sequencing Primer
(F):5'- GGTGTCCAGATGATAAATATGCC -3'
(R):5'- GACCACAGTTATTGTTTTGGCCAAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation