Incidental Mutation 'R9244:Vmn2r117'
| ID |
701179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r117
|
| Ensembl Gene |
ENSMUSG00000091407 |
| Gene Name |
vomeronasal 2, receptor 117 |
| Synonyms |
EG619788, V2Rp6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R9244 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23696589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 273
(I273F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171996
AA Change: I273F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: I273F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
471 |
2.6e-28 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
5e-20 |
PFAM |
|
Pfam:7tm_3
|
595 |
833 |
8.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,577 (GRCm39) |
I1147V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,370,679 (GRCm39) |
T653A |
probably benign |
Het |
| App |
A |
G |
16: 84,759,629 (GRCm39) |
I656T |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,397,879 (GRCm39) |
I574N |
possibly damaging |
Het |
| Cdc42 |
T |
C |
4: 137,056,391 (GRCm39) |
T75A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,249,442 (GRCm39) |
K822N |
possibly damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,594 (GRCm39) |
L444I |
unknown |
Het |
| Ctnnbl1 |
G |
T |
2: 157,678,583 (GRCm39) |
K395N |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,316 (GRCm39) |
I1808K |
probably benign |
Het |
| Dnajb8 |
C |
A |
6: 88,199,884 (GRCm39) |
P140Q |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 67,996,563 (GRCm39) |
R1727W |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,486,429 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Eaf1 |
T |
C |
14: 31,219,766 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,460,700 (GRCm39) |
Y207C |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,654,689 (GRCm39) |
D663G |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,265,441 (GRCm39) |
V451A |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Esco2 |
A |
G |
14: 66,059,088 (GRCm39) |
W530R |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,248,922 (GRCm39) |
I1367T |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,348,862 (GRCm39) |
|
probably benign |
Het |
| Get1 |
A |
G |
16: 95,955,383 (GRCm39) |
T147A |
probably benign |
Het |
| Gm42669 |
A |
G |
5: 107,656,370 (GRCm39) |
T295A |
possibly damaging |
Het |
| Harbi1 |
A |
G |
2: 91,543,040 (GRCm39) |
N167S |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,022,766 (GRCm39) |
N945K |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,561,084 (GRCm39) |
|
probably null |
Het |
| Htr1f |
G |
T |
16: 64,746,857 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2bp2 |
A |
C |
16: 21,886,901 (GRCm39) |
S453A |
possibly damaging |
Het |
| Ipo4 |
A |
T |
14: 55,871,799 (GRCm39) |
W116R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,015,040 (GRCm39) |
H917R |
probably benign |
Het |
| Klrb1b |
A |
T |
6: 128,792,245 (GRCm39) |
C189* |
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,058 (GRCm39) |
Y41C |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,865,237 (GRCm39) |
S101P |
probably damaging |
Het |
| Mcmdc2 |
C |
T |
1: 9,985,835 (GRCm39) |
T127I |
probably damaging |
Het |
| Mtch1 |
C |
A |
17: 29,566,626 (GRCm39) |
A46S |
unknown |
Het |
| Ndufb5 |
C |
A |
3: 32,795,906 (GRCm39) |
Q33K |
probably null |
Het |
| Nufip2 |
T |
C |
11: 77,583,475 (GRCm39) |
V463A |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,448,537 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,852 (GRCm39) |
I33T |
probably benign |
Het |
| Or6d12 |
G |
A |
6: 116,492,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or8j3c |
A |
T |
2: 86,253,423 (GRCm39) |
V199E |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,226 (GRCm39) |
D472G |
unknown |
Het |
| Ppip5k1 |
A |
C |
2: 121,164,932 (GRCm39) |
S972A |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,534,982 (GRCm39) |
M86L |
probably benign |
Het |
| Prorsd1 |
T |
C |
11: 29,463,271 (GRCm39) |
I164V |
probably benign |
Het |
| Ptgs1 |
A |
G |
2: 36,130,724 (GRCm39) |
T208A |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
C |
5: 22,120,151 (GRCm39) |
R2834G |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,497,589 (GRCm39) |
Y373* |
probably null |
Het |
| Skor1 |
A |
T |
9: 63,049,524 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,249 (GRCm39) |
S591P |
probably damaging |
Het |
| Stat2 |
A |
G |
10: 128,118,634 (GRCm39) |
E389G |
possibly damaging |
Het |
| Trav14n-3 |
C |
A |
14: 53,608,004 (GRCm39) |
D111E |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,533,370 (GRCm39) |
S873G |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,012,089 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,189 (GRCm39) |
M714K |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 23,839,919 (GRCm39) |
T113A |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,585,640 (GRCm39) |
L696R |
probably damaging |
Het |
|
| Other mutations in Vmn2r117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r117
|
APN |
17 |
23,698,520 (GRCm39) |
missense |
probably benign |
|
|
IGL00990:Vmn2r117
|
APN |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r117
|
APN |
17 |
23,694,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01078:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Vmn2r117
|
APN |
17 |
23,697,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01779:Vmn2r117
|
APN |
17 |
23,696,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02283:Vmn2r117
|
APN |
17 |
23,694,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02527:Vmn2r117
|
APN |
17 |
23,696,199 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02612:Vmn2r117
|
APN |
17 |
23,678,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02887:Vmn2r117
|
APN |
17 |
23,694,552 (GRCm39) |
splice site |
probably benign |
|
|
IGL03167:Vmn2r117
|
APN |
17 |
23,696,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Vmn2r117
|
UTSW |
17 |
23,679,139 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0610:Vmn2r117
|
UTSW |
17 |
23,694,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0747:Vmn2r117
|
UTSW |
17 |
23,694,477 (GRCm39) |
nonsense |
probably null |
|
|
R1411:Vmn2r117
|
UTSW |
17 |
23,679,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Vmn2r117
|
UTSW |
17 |
23,697,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1853:Vmn2r117
|
UTSW |
17 |
23,696,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1925:Vmn2r117
|
UTSW |
17 |
23,697,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1940:Vmn2r117
|
UTSW |
17 |
23,696,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Vmn2r117
|
UTSW |
17 |
23,696,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Vmn2r117
|
UTSW |
17 |
23,679,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2698:Vmn2r117
|
UTSW |
17 |
23,678,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2972:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3848:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4082:Vmn2r117
|
UTSW |
17 |
23,679,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4320:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
|
R4560:Vmn2r117
|
UTSW |
17 |
23,678,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Vmn2r117
|
UTSW |
17 |
23,697,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4881:Vmn2r117
|
UTSW |
17 |
23,696,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Vmn2r117
|
UTSW |
17 |
23,678,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
|
R5078:Vmn2r117
|
UTSW |
17 |
23,679,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Vmn2r117
|
UTSW |
17 |
23,696,848 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Vmn2r117
|
UTSW |
17 |
23,696,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6014:Vmn2r117
|
UTSW |
17 |
23,698,535 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6390:Vmn2r117
|
UTSW |
17 |
23,679,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6520:Vmn2r117
|
UTSW |
17 |
23,679,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6674:Vmn2r117
|
UTSW |
17 |
23,679,023 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Vmn2r117
|
UTSW |
17 |
23,697,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6909:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6913:Vmn2r117
|
UTSW |
17 |
23,698,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7220:Vmn2r117
|
UTSW |
17 |
23,696,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Vmn2r117
|
UTSW |
17 |
23,694,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7440:Vmn2r117
|
UTSW |
17 |
23,694,539 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7443:Vmn2r117
|
UTSW |
17 |
23,679,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Vmn2r117
|
UTSW |
17 |
23,679,107 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7449:Vmn2r117
|
UTSW |
17 |
23,678,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Vmn2r117
|
UTSW |
17 |
23,696,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7914:Vmn2r117
|
UTSW |
17 |
23,679,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8001:Vmn2r117
|
UTSW |
17 |
23,698,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8029:Vmn2r117
|
UTSW |
17 |
23,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8340:Vmn2r117
|
UTSW |
17 |
23,679,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8519:Vmn2r117
|
UTSW |
17 |
23,698,442 (GRCm39) |
missense |
probably benign |
|
|
R8723:Vmn2r117
|
UTSW |
17 |
23,696,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Vmn2r117
|
UTSW |
17 |
23,679,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9010:Vmn2r117
|
UTSW |
17 |
23,679,445 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9129:Vmn2r117
|
UTSW |
17 |
23,678,918 (GRCm39) |
nonsense |
probably null |
|
|
R9464:Vmn2r117
|
UTSW |
17 |
23,696,578 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9620:Vmn2r117
|
UTSW |
17 |
23,697,450 (GRCm39) |
missense |
probably damaging |
0.97 |
|
V5622:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
V5622:Vmn2r117
|
UTSW |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r117
|
UTSW |
17 |
23,678,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACAGAGTTCAATGTCTGGAC -3'
(R):5'- GGTAGGGTTGGTCATCTCAGAC -3'
Sequencing Primer
(F):5'- AACCCAGAAATCTCACTATGGTGTTG -3'
(R):5'- GTTGGTCATCTCAGACAATGATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation