Incidental Mutation 'R1925:Vmn2r117'
ID |
213389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r117
|
Ensembl Gene |
ENSMUSG00000091407 |
Gene Name |
vomeronasal 2, receptor 117 |
Synonyms |
EG619788, V2Rp6 |
MMRRC Submission |
039943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1925 (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 23697363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 110
(S110P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
AlphaFold |
K7N6V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000171996
AA Change: S110P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000126885 Gene: ENSMUSG00000091407 AA Change: S110P
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 |
0.0898 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,617,333 (GRCm39) |
H577R |
probably damaging |
Het |
Acvr1 |
T |
C |
2: 58,337,661 (GRCm39) |
M474V |
probably damaging |
Het |
Adam1a |
A |
T |
5: 121,657,513 (GRCm39) |
C593* |
probably null |
Het |
Agap2 |
A |
G |
10: 126,926,744 (GRCm39) |
N927S |
probably damaging |
Het |
Ahctf1 |
T |
C |
1: 179,598,218 (GRCm39) |
H958R |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,835,581 (GRCm39) |
V1088A |
probably damaging |
Het |
Brpf1 |
G |
T |
6: 113,296,891 (GRCm39) |
K958N |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,705,726 (GRCm38) |
I223T |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,397,189 (GRCm39) |
M1105V |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,735,265 (GRCm39) |
F1033L |
possibly damaging |
Het |
Col4a3 |
T |
A |
1: 82,678,094 (GRCm39) |
I1232N |
unknown |
Het |
Col4a3 |
T |
G |
1: 82,689,595 (GRCm39) |
|
probably benign |
Het |
Comtd1 |
T |
G |
14: 21,897,731 (GRCm39) |
E134A |
probably damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,022,821 (GRCm39) |
T320S |
probably benign |
Het |
Dlx2 |
T |
C |
2: 71,376,522 (GRCm39) |
N72S |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,301,459 (GRCm39) |
V272E |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,323,061 (GRCm39) |
I523N |
probably damaging |
Het |
Dpysl3 |
T |
A |
18: 43,465,996 (GRCm39) |
I140F |
probably damaging |
Het |
Elmod2 |
G |
A |
8: 84,048,093 (GRCm39) |
A123V |
probably benign |
Het |
Etv4 |
T |
C |
11: 101,662,507 (GRCm39) |
|
probably benign |
Het |
F3 |
A |
T |
3: 121,523,032 (GRCm39) |
T81S |
probably damaging |
Het |
Faf2 |
C |
T |
13: 54,799,865 (GRCm39) |
A224V |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,205,549 (GRCm39) |
M1109K |
probably damaging |
Het |
Fnbp4 |
A |
G |
2: 90,596,187 (GRCm39) |
E586G |
probably damaging |
Het |
Gm10428 |
G |
T |
11: 62,644,179 (GRCm39) |
|
probably benign |
Het |
Gm5884 |
A |
T |
6: 128,622,050 (GRCm39) |
|
noncoding transcript |
Het |
Gm6471 |
T |
A |
7: 142,385,319 (GRCm39) |
|
noncoding transcript |
Het |
Gtse1 |
T |
C |
15: 85,757,939 (GRCm39) |
V515A |
probably benign |
Het |
H2-M2 |
T |
C |
17: 37,793,391 (GRCm39) |
E205G |
probably damaging |
Het |
Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,154,308 (GRCm39) |
Y225C |
probably damaging |
Het |
Kcnq3 |
T |
G |
15: 65,876,658 (GRCm39) |
D495A |
possibly damaging |
Het |
Lrrc49 |
T |
C |
9: 60,556,773 (GRCm39) |
N321D |
probably benign |
Het |
Lztr1 |
G |
T |
16: 17,341,247 (GRCm39) |
R291L |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,568,983 (GRCm39) |
|
probably benign |
Het |
Msh5 |
C |
T |
17: 35,248,928 (GRCm39) |
V702I |
probably benign |
Het |
Myh1 |
T |
C |
11: 67,101,996 (GRCm39) |
I792T |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,534,967 (GRCm39) |
|
probably benign |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or11i1 |
C |
T |
3: 106,729,688 (GRCm39) |
M62I |
probably damaging |
Het |
Or5ac22 |
A |
G |
16: 59,135,027 (GRCm39) |
S248P |
probably damaging |
Het |
Or8u9 |
T |
C |
2: 86,001,354 (GRCm39) |
D269G |
probably benign |
Het |
Otof |
G |
C |
5: 30,551,532 (GRCm39) |
N340K |
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,941,664 (GRCm39) |
Y155F |
probably damaging |
Het |
Ppa1 |
T |
A |
10: 61,487,388 (GRCm39) |
Y38* |
probably null |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Prmt9 |
T |
A |
8: 78,303,968 (GRCm39) |
C684S |
possibly damaging |
Het |
Rasl10a |
A |
G |
11: 5,009,473 (GRCm39) |
D87G |
possibly damaging |
Het |
Rtn4rl1 |
C |
A |
11: 75,156,864 (GRCm39) |
P432Q |
probably benign |
Het |
Scd4 |
T |
G |
19: 44,329,823 (GRCm39) |
Y265D |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,358,085 (GRCm39) |
A719T |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,171,040 (GRCm39) |
F1968I |
probably benign |
Het |
Sh3bp5 |
T |
C |
14: 31,157,880 (GRCm39) |
E12G |
probably benign |
Het |
Slc6a12 |
T |
A |
6: 121,337,485 (GRCm39) |
F390I |
probably benign |
Het |
Snapin |
A |
T |
3: 90,397,539 (GRCm39) |
D77E |
possibly damaging |
Het |
Sox2 |
G |
T |
3: 34,704,820 (GRCm39) |
E86* |
probably null |
Het |
Sparcl1 |
A |
G |
5: 104,241,220 (GRCm39) |
L68P |
probably benign |
Het |
Sptb |
T |
A |
12: 76,669,027 (GRCm39) |
E562V |
probably damaging |
Het |
Taar3 |
A |
T |
10: 23,826,483 (GRCm39) |
H343L |
probably benign |
Het |
Tanc1 |
T |
A |
2: 59,555,095 (GRCm39) |
V51E |
possibly damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,123,350 (GRCm39) |
S128P |
probably damaging |
Het |
Thada |
A |
G |
17: 84,751,927 (GRCm39) |
S350P |
probably benign |
Het |
Tmem161b |
T |
C |
13: 84,408,348 (GRCm39) |
V93A |
probably benign |
Het |
Tnn |
T |
C |
1: 159,924,799 (GRCm39) |
Y1185C |
probably damaging |
Het |
Trim43a |
T |
C |
9: 88,464,371 (GRCm39) |
V94A |
probably benign |
Het |
Ttll12 |
C |
T |
15: 83,465,976 (GRCm39) |
E407K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,555,856 (GRCm39) |
E30383G |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,087 (GRCm39) |
M269K |
possibly damaging |
Het |
Vmn2r6 |
C |
A |
3: 64,463,698 (GRCm39) |
V290L |
possibly damaging |
Het |
Vmn2r8 |
A |
T |
5: 108,950,019 (GRCm39) |
L276Q |
probably damaging |
Het |
Zan |
C |
A |
5: 137,423,904 (GRCm39) |
C2665F |
unknown |
Het |
Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
Zfp983 |
A |
G |
17: 21,880,933 (GRCm39) |
H287R |
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 |
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 |
|
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'- ACACACTTACCTGCTGAGAC -3'
(R):5'- GTGGGGACAATAAAATCCACTG -3'
Sequencing Primer
(F):5'- CACTTACCTGCTGAGACATGAAGTTG -3'
(R):5'- CCACTGGAGAATTGTCCTTTTATTG -3'
|
Posted On |
2014-07-14 |