Incidental Mutation 'R6014:Vmn2r117'
| ID |
479943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r117
|
| Ensembl Gene |
ENSMUSG00000091407 |
| Gene Name |
vomeronasal 2, receptor 117 |
| Synonyms |
EG619788, V2Rp6 |
| MMRRC Submission |
044190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6014 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23698535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 13
(I13F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171996
AA Change: I13F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: I13F
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,244,881 (GRCm39) |
M157K |
probably benign |
Het |
| A2ml1 |
C |
T |
6: 128,548,948 (GRCm39) |
C278Y |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,815,174 (GRCm39) |
Q1187L |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,236,683 (GRCm39) |
Y6N |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,992,559 (GRCm39) |
I225T |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,939 (GRCm39) |
I816K |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,364 (GRCm39) |
M240K |
possibly damaging |
Het |
| Apex1 |
A |
T |
14: 51,162,982 (GRCm39) |
T17S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,886,616 (GRCm39) |
G26D |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,180,615 (GRCm39) |
Y2613C |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,246,248 (GRCm39) |
R566W |
probably damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,641,400 (GRCm39) |
Y818F |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,360,739 (GRCm39) |
C56* |
probably null |
Het |
| Coro2a |
G |
A |
4: 46,542,261 (GRCm39) |
P371S |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,605 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
A |
18: 43,494,132 (GRCm39) |
I183F |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,502,993 (GRCm39) |
N172I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,303,915 (GRCm39) |
Y1378H |
probably damaging |
Het |
| Dync2i2 |
C |
T |
2: 29,921,763 (GRCm39) |
A533T |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l3 |
A |
T |
17: 69,590,955 (GRCm39) |
T91S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,452,932 (GRCm39) |
V474A |
probably benign |
Het |
| Fam229b |
G |
A |
10: 38,994,989 (GRCm39) |
T56I |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,288,169 (GRCm39) |
|
probably null |
Het |
| Git2 |
C |
T |
5: 114,871,938 (GRCm39) |
E152K |
probably benign |
Het |
| Golt1b |
T |
A |
6: 142,341,943 (GRCm39) |
I109N |
probably damaging |
Het |
| Grid2ip |
T |
A |
5: 143,373,578 (GRCm39) |
M783K |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,154,898 (GRCm39) |
Y339C |
probably damaging |
Het |
| Isoc2a |
T |
C |
7: 4,894,625 (GRCm39) |
S103P |
probably damaging |
Het |
| Itih4 |
C |
A |
14: 30,614,586 (GRCm39) |
Q483K |
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,418,197 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
G |
A |
Y: 921,528 (GRCm39) |
A509T |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,008,437 (GRCm39) |
D433E |
unknown |
Het |
| Lat2 |
C |
T |
5: 134,632,308 (GRCm39) |
V142M |
probably damaging |
Het |
| Lemd1 |
A |
C |
1: 132,184,463 (GRCm39) |
*102S |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,376,934 (GRCm39) |
L5P |
possibly damaging |
Het |
| Lrrc4c |
T |
G |
2: 97,459,557 (GRCm39) |
|
probably null |
Het |
| Lypla1 |
T |
A |
1: 4,878,594 (GRCm39) |
|
probably null |
Het |
| Magi2 |
G |
A |
5: 20,816,091 (GRCm39) |
G744R |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,274,502 (GRCm39) |
E948V |
probably null |
Het |
| Myo5a |
C |
A |
9: 75,074,489 (GRCm39) |
Y799* |
probably null |
Het |
| Nacc1 |
A |
C |
8: 85,401,700 (GRCm39) |
M371R |
possibly damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,109,372 (GRCm39) |
M106R |
probably benign |
Het |
| Oas1h |
C |
T |
5: 121,005,229 (GRCm39) |
H226Y |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,929,690 (GRCm39) |
I5175R |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,878,497 (GRCm39) |
I684N |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,706 (GRCm39) |
N557K |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,015,675 (GRCm39) |
L297S |
probably damaging |
Het |
| Pigv |
G |
T |
4: 133,392,740 (GRCm39) |
H143Q |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,176,293 (GRCm39) |
Y251S |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,433,673 (GRCm39) |
N219S |
probably damaging |
Het |
| Sardh |
C |
A |
2: 27,087,540 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,356 (GRCm39) |
K212N |
possibly damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,716,971 (GRCm39) |
N461D |
probably benign |
Het |
| Shisa2 |
A |
T |
14: 59,867,357 (GRCm39) |
Q203L |
probably damaging |
Het |
| Shmt1 |
C |
A |
11: 60,688,383 (GRCm39) |
G255V |
probably damaging |
Het |
| Socs1 |
T |
A |
16: 10,602,357 (GRCm39) |
I127F |
possibly damaging |
Het |
| Srcap |
A |
T |
7: 127,137,922 (GRCm39) |
T1091S |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,613,003 (GRCm39) |
I599T |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,084,457 (GRCm39) |
N907K |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,291 (GRCm39) |
Y312H |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,473,357 (GRCm39) |
S812A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,582,237 (GRCm39) |
I3767F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,907,738 (GRCm39) |
E626V |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,566,620 (GRCm39) |
R1181G |
probably benign |
Het |
| Wdr48 |
G |
T |
9: 119,753,775 (GRCm39) |
V646F |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,633,556 (GRCm39) |
F936L |
possibly 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 |
|
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'- TCTTGGGAAACATTCATGATGACTG -3'
(R):5'- TCAATGATTCCTCCAGGGGTG -3'
Sequencing Primer
(F):5'- CATGATGACTGTACATGGAAAACAC -3'
(R):5'- TTCCTCCAGGGGTGAGGAAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation