Incidental Mutation 'R4894:Vmn2r6'
| ID |
377476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r6
|
| Ensembl Gene |
ENSMUSG00000090581 |
| Gene Name |
vomeronasal 2, receptor 6 |
| Synonyms |
EG667069, EG620718 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R4894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64444916-64472855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64454829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 490
(S490N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165012]
[ENSMUST00000176481]
|
| AlphaFold |
H3BK29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165012
AA Change: S401N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: S401N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
1.4e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
58 |
244 |
1.2e-10 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
1.8e-17 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
3.9e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176481
AA Change: S490N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: S490N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
88 |
505 |
9.8e-77 |
PFAM |
|
Pfam:Peripla_BP_6
|
142 |
331 |
3.4e-10 |
PFAM |
|
Pfam:NCD3G
|
547 |
600 |
5.4e-17 |
PFAM |
|
Pfam:7tm_3
|
633 |
867 |
3.9e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
C |
A |
17: 43,609,975 (GRCm39) |
Y176* |
probably null |
Het |
| Akap13 |
T |
A |
7: 75,375,068 (GRCm39) |
M1900K |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,585,332 (GRCm39) |
E381G |
probably damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,891,183 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
G |
T |
1: 154,364,551 (GRCm39) |
S341* |
probably null |
Het |
| Camk1d |
G |
A |
2: 5,359,539 (GRCm39) |
S161L |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,173,630 (GRCm39) |
H1619Q |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,838,629 (GRCm39) |
I1276N |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,719,662 (GRCm39) |
V436A |
probably damaging |
Het |
| Ctcfl |
G |
A |
2: 172,959,196 (GRCm39) |
P177S |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,620,539 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epc1 |
A |
T |
18: 6,449,011 (GRCm39) |
S495R |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,230,758 (GRCm39) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
| Fam111a |
C |
G |
19: 12,565,913 (GRCm39) |
T554R |
probably benign |
Het |
| Fbh1 |
A |
T |
2: 11,767,771 (GRCm39) |
I359N |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,490,751 (GRCm39) |
C1023R |
probably damaging |
Het |
| Helz2 |
G |
C |
2: 180,877,940 (GRCm39) |
P953A |
probably benign |
Het |
| Ifi204 |
G |
T |
1: 173,587,808 (GRCm39) |
S117Y |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,810,088 (GRCm39) |
*665W |
probably null |
Het |
| Igfn1 |
G |
A |
1: 135,882,520 (GRCm39) |
T2775M |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,325,634 (GRCm39) |
T1101A |
probably benign |
Het |
| Ipo13 |
A |
C |
4: 117,760,638 (GRCm39) |
I614S |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,687 (GRCm39) |
I476T |
possibly damaging |
Het |
| Kdm2b |
C |
A |
5: 123,079,030 (GRCm39) |
E308* |
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,937,102 (GRCm39) |
M91K |
possibly damaging |
Het |
| Klrb1f |
T |
C |
6: 129,030,151 (GRCm39) |
F64L |
probably benign |
Het |
| Ldlrad3 |
C |
T |
2: 101,888,293 (GRCm39) |
C106Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,530 (GRCm39) |
T161A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 102,997,613 (GRCm39) |
M1334K |
possibly damaging |
Het |
| Mepe |
C |
G |
5: 104,473,268 (GRCm39) |
P3R |
probably damaging |
Het |
| Mgat4e |
A |
G |
1: 134,468,856 (GRCm39) |
V396A |
probably benign |
Het |
| Nfx1 |
T |
G |
4: 40,996,877 (GRCm39) |
S651A |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,483 (GRCm39) |
C100S |
probably damaging |
Het |
| Or2w6 |
T |
C |
13: 21,843,352 (GRCm39) |
N47S |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,817,783 (GRCm39) |
I254M |
possibly damaging |
Het |
| Rag2 |
T |
C |
2: 101,460,022 (GRCm39) |
S111P |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,077,572 (GRCm39) |
D545E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,033,115 (GRCm39) |
V498A |
possibly damaging |
Het |
| Rasal2 |
G |
A |
1: 157,020,374 (GRCm39) |
S205L |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,862,787 (GRCm39) |
L582P |
probably damaging |
Het |
| Retn |
G |
A |
8: 3,707,358 (GRCm39) |
R106H |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,343,488 (GRCm39) |
L116P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,372,066 (GRCm39) |
Y4885H |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,409 (GRCm39) |
I399M |
probably benign |
Het |
| Sez6 |
G |
T |
11: 77,866,086 (GRCm39) |
G738V |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,872,643 (GRCm39) |
V56A |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,849,542 (GRCm39) |
V862D |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,671,768 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
C |
A |
5: 23,750,527 (GRCm39) |
G59W |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,632,779 (GRCm39) |
S96P |
probably damaging |
Het |
| Ube2v1 |
A |
G |
2: 167,452,280 (GRCm39) |
S108P |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 43,987,125 (GRCm39) |
S141L |
probably benign |
Het |
| Vamp5 |
T |
C |
6: 72,347,181 (GRCm39) |
D46G |
possibly damaging |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,310 (GRCm39) |
Q156L |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,183,440 (GRCm39) |
I10N |
probably damaging |
Het |
| Vwf |
C |
T |
6: 125,622,897 (GRCm39) |
Q1755* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,877,717 (GRCm39) |
H82Q |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Wdr72 |
A |
G |
9: 74,117,843 (GRCm39) |
T852A |
probably benign |
Het |
| Zfp1 |
T |
A |
8: 112,396,355 (GRCm39) |
C92* |
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,033,899 (GRCm39) |
C104* |
probably null |
Het |
| Zfp426 |
A |
T |
9: 20,386,369 (GRCm39) |
|
probably benign |
Het |
| Zfp442 |
C |
T |
2: 150,253,130 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
T |
C |
7: 29,635,470 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01547:Vmn2r6
|
APN |
3 |
64,445,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01968:Vmn2r6
|
APN |
3 |
64,463,766 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02009:Vmn2r6
|
APN |
3 |
64,445,323 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02039:Vmn2r6
|
APN |
3 |
64,463,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Vmn2r6
|
APN |
3 |
64,463,749 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02737:Vmn2r6
|
APN |
3 |
64,463,911 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02808:Vmn2r6
|
APN |
3 |
64,463,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Vmn2r6
|
APN |
3 |
64,472,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03331:Vmn2r6
|
APN |
3 |
64,445,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB020:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0010:Vmn2r6
|
UTSW |
3 |
64,466,966 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
|
R0206:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
|
R0208:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
|
R0427:Vmn2r6
|
UTSW |
3 |
64,467,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Vmn2r6
|
UTSW |
3 |
64,463,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Vmn2r6
|
UTSW |
3 |
64,464,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Vmn2r6
|
UTSW |
3 |
64,445,487 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1186:Vmn2r6
|
UTSW |
3 |
64,472,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1245:Vmn2r6
|
UTSW |
3 |
64,464,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1295:Vmn2r6
|
UTSW |
3 |
64,445,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Vmn2r6
|
UTSW |
3 |
64,445,579 (GRCm39) |
nonsense |
probably null |
|
|
R1498:Vmn2r6
|
UTSW |
3 |
64,463,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Vmn2r6
|
UTSW |
3 |
64,463,698 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2044:Vmn2r6
|
UTSW |
3 |
64,445,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2069:Vmn2r6
|
UTSW |
3 |
64,463,519 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2253:Vmn2r6
|
UTSW |
3 |
64,467,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Vmn2r6
|
UTSW |
3 |
64,464,090 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2262:Vmn2r6
|
UTSW |
3 |
64,464,090 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2350:Vmn2r6
|
UTSW |
3 |
64,463,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2680:Vmn2r6
|
UTSW |
3 |
64,445,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2846:Vmn2r6
|
UTSW |
3 |
64,464,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2860:Vmn2r6
|
UTSW |
3 |
64,454,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2861:Vmn2r6
|
UTSW |
3 |
64,454,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3766:Vmn2r6
|
UTSW |
3 |
64,463,929 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3870:Vmn2r6
|
UTSW |
3 |
64,464,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4018:Vmn2r6
|
UTSW |
3 |
64,463,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4024:Vmn2r6
|
UTSW |
3 |
64,445,671 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4026:Vmn2r6
|
UTSW |
3 |
64,445,671 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4227:Vmn2r6
|
UTSW |
3 |
64,445,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4526:Vmn2r6
|
UTSW |
3 |
64,445,145 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4570:Vmn2r6
|
UTSW |
3 |
64,467,068 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4934:Vmn2r6
|
UTSW |
3 |
64,463,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5057:Vmn2r6
|
UTSW |
3 |
64,445,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5059:Vmn2r6
|
UTSW |
3 |
64,445,044 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5148:Vmn2r6
|
UTSW |
3 |
64,464,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5155:Vmn2r6
|
UTSW |
3 |
64,445,935 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5179:Vmn2r6
|
UTSW |
3 |
64,445,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5256:Vmn2r6
|
UTSW |
3 |
64,464,263 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5861:Vmn2r6
|
UTSW |
3 |
64,463,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5950:Vmn2r6
|
UTSW |
3 |
64,472,652 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6081:Vmn2r6
|
UTSW |
3 |
64,463,953 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6173:Vmn2r6
|
UTSW |
3 |
64,467,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Vmn2r6
|
UTSW |
3 |
64,445,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6240:Vmn2r6
|
UTSW |
3 |
64,464,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Vmn2r6
|
UTSW |
3 |
64,454,801 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Vmn2r6
|
UTSW |
3 |
64,464,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Vmn2r6
|
UTSW |
3 |
64,445,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Vmn2r6
|
UTSW |
3 |
64,464,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7503:Vmn2r6
|
UTSW |
3 |
64,447,372 (GRCm39) |
nonsense |
probably null |
|
|
R7562:Vmn2r6
|
UTSW |
3 |
64,463,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Vmn2r6
|
UTSW |
3 |
64,472,683 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7611:Vmn2r6
|
UTSW |
3 |
64,472,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7759:Vmn2r6
|
UTSW |
3 |
64,463,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Vmn2r6
|
UTSW |
3 |
64,445,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7982:Vmn2r6
|
UTSW |
3 |
64,467,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Vmn2r6
|
UTSW |
3 |
64,467,245 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8074:Vmn2r6
|
UTSW |
3 |
64,455,064 (GRCm39) |
intron |
probably benign |
|
|
R8169:Vmn2r6
|
UTSW |
3 |
64,447,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8337:Vmn2r6
|
UTSW |
3 |
64,463,526 (GRCm39) |
nonsense |
probably null |
|
|
R8736:Vmn2r6
|
UTSW |
3 |
64,467,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Vmn2r6
|
UTSW |
3 |
64,463,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Vmn2r6
|
UTSW |
3 |
64,464,277 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9206:Vmn2r6
|
UTSW |
3 |
64,467,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9295:Vmn2r6
|
UTSW |
3 |
64,463,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9332:Vmn2r6
|
UTSW |
3 |
64,454,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9616:Vmn2r6
|
UTSW |
3 |
64,445,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Vmn2r6
|
UTSW |
3 |
64,463,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9685:Vmn2r6
|
UTSW |
3 |
64,464,081 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0020:Vmn2r6
|
UTSW |
3 |
64,445,871 (GRCm39) |
missense |
probably benign |
|
|
X0066:Vmn2r6
|
UTSW |
3 |
64,454,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r6
|
UTSW |
3 |
64,463,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAACCCTTGAAGATTCAGTG -3'
(R):5'- GGCTCTTGATACAGAGGTATTATACTG -3'
Sequencing Primer
(F):5'- CAGTGTTCCAAAATAATGTTGAGTTC -3'
(R):5'- CACCTGTGGCTAGAGGATATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation