Incidental Mutation 'R2698:Vmn2r117'
| ID |
251395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r117
|
| Ensembl Gene |
ENSMUSG00000091407 |
| Gene Name |
vomeronasal 2, receptor 117 |
| Synonyms |
EG619788, V2Rp6 |
| MMRRC Submission |
040436-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2698 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23678885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 780
(S780P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171996
AA Change: S780P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: S780P
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,862 (GRCm39) |
R901G |
possibly damaging |
Het |
| Abhd18 |
T |
A |
3: 40,885,401 (GRCm39) |
M262K |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,689,309 (GRCm39) |
L145I |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,408,426 (GRCm39) |
W874R |
probably damaging |
Het |
| Cox4i1 |
G |
T |
8: 121,396,102 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
A |
T |
13: 104,943,259 (GRCm39) |
N94K |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,804,342 (GRCm39) |
S372P |
probably damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,681 (GRCm39) |
N356S |
probably damaging |
Het |
| Dusp8 |
A |
G |
7: 141,635,701 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
G |
A |
14: 27,993,662 (GRCm39) |
V894M |
probably benign |
Het |
| Fbxo28 |
T |
A |
1: 182,144,719 (GRCm39) |
I282F |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,729,421 (GRCm39) |
H453R |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,988,065 (GRCm39) |
|
probably null |
Het |
| Gm11541 |
A |
T |
11: 94,586,441 (GRCm39) |
L102* |
probably null |
Het |
| Gm5113 |
T |
A |
7: 29,878,150 (GRCm39) |
Y79* |
probably null |
Het |
| Gpr87 |
T |
A |
3: 59,086,587 (GRCm39) |
N306I |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,336,561 (GRCm39) |
Y5113N |
possibly damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,390,430 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
A |
6: 95,103,570 (GRCm39) |
Y406* |
probably null |
Het |
| Lamb1 |
G |
T |
12: 31,348,882 (GRCm39) |
R590L |
probably benign |
Het |
| Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,367,845 (GRCm39) |
E165G |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,305,557 (GRCm39) |
R276C |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,841,028 (GRCm39) |
T1384S |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,217,780 (GRCm39) |
|
probably null |
Het |
| Morc2a |
T |
C |
11: 3,635,400 (GRCm39) |
V797A |
probably damaging |
Het |
| Mrps23 |
T |
C |
11: 88,096,193 (GRCm39) |
|
probably benign |
Het |
| Muc17 |
A |
T |
5: 137,175,484 (GRCm39) |
I62K |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,349,630 (GRCm38) |
|
noncoding transcript |
Het |
| Nptx1 |
A |
T |
11: 119,435,669 (GRCm39) |
|
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,208 (GRCm39) |
I210K |
possibly damaging |
Het |
| Pabpc1l |
T |
G |
2: 163,886,302 (GRCm39) |
|
probably null |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,575 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,250,349 (GRCm39) |
Q230R |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,824,282 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,690,038 (GRCm39) |
N320Y |
probably damaging |
Het |
| Qars1 |
G |
A |
9: 108,385,642 (GRCm39) |
V60I |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,147,367 (GRCm39) |
S410P |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,970 (GRCm39) |
K297E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,814,720 (GRCm39) |
E294G |
probably benign |
Het |
| Scaf4 |
T |
A |
16: 90,041,244 (GRCm39) |
I695F |
unknown |
Het |
| Scrn2 |
T |
C |
11: 96,923,122 (GRCm39) |
|
probably benign |
Het |
| Scx |
T |
A |
15: 76,342,363 (GRCm39) |
C188S |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 142,197,805 (GRCm39) |
V1893L |
possibly damaging |
Het |
| Sema5a |
C |
A |
15: 32,673,546 (GRCm39) |
Q795K |
probably damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,455,487 (GRCm39) |
S459G |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,820,372 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
T |
C |
10: 23,837,328 (GRCm39) |
Y313H |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,419,322 (GRCm39) |
F79S |
probably damaging |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,672 (GRCm39) |
I64F |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,372 (GRCm39) |
T102A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,976,222 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,496,435 (GRCm39) |
Y495C |
probably benign |
Het |
| Usp50 |
A |
G |
2: 126,619,949 (GRCm39) |
I121T |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,607 (GRCm39) |
V601D |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,413,734 (GRCm39) |
A199T |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,222,969 (GRCm39) |
T415A |
possibly damaging |
Het |
| Zfp760 |
C |
T |
17: 21,939,935 (GRCm39) |
T9I |
probably damaging |
Het |
| Zfp998 |
A |
G |
13: 66,581,495 (GRCm39) |
S59P |
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 |
|
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 |
|
|
R9244:Vmn2r117
|
UTSW |
17 |
23,696,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGCATTGGAAGATGATTTCACCCTG -3'
(R):5'- AGTCTGGCTGAGAGCTTCTC -3'
Sequencing Primer
(F):5'- GATTTCACCCTGATCATTTCAAGAG -3'
(R):5'- CCTCCTTCTGTTGATATTGATGCAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation