Incidental Mutation 'R7406:Vmn2r8'
ID |
574730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r8
|
Ensembl Gene |
ENSMUSG00000090961 |
Gene Name |
vomeronasal 2, receptor 8 |
Synonyms |
EG627479 |
MMRRC Submission |
045487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R7406 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108945059-108956620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108948442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 482
(L482S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172140]
|
AlphaFold |
L7N472 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172140
AA Change: L482S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000126953 Gene: ENSMUSG00000090961 AA Change: L482S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
78 |
419 |
1.1e-28 |
PFAM |
Pfam:NCD3G
|
507 |
561 |
8.2e-18 |
PFAM |
Pfam:7tm_3
|
594 |
829 |
1.1e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
T |
C |
1: 85,974,231 (GRCm39) |
S183P |
possibly damaging |
Het |
2900092C05Rik |
A |
G |
7: 12,249,391 (GRCm39) |
T75A |
possibly damaging |
Het |
Abhd8 |
A |
G |
8: 71,914,406 (GRCm39) |
V74A |
probably benign |
Het |
Agrn |
A |
C |
4: 156,256,758 (GRCm39) |
S1282R |
possibly damaging |
Het |
Atf5 |
T |
C |
7: 44,462,380 (GRCm39) |
N248S |
possibly damaging |
Het |
Atp2a3 |
A |
G |
11: 72,869,576 (GRCm39) |
Y497C |
probably damaging |
Het |
Bpifa2 |
T |
G |
2: 153,851,739 (GRCm39) |
S58R |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,604,600 (GRCm39) |
E1238K |
possibly damaging |
Het |
Ccdc71 |
T |
A |
9: 108,340,523 (GRCm39) |
L112* |
probably null |
Het |
Cd300e |
A |
T |
11: 114,946,128 (GRCm39) |
I111N |
probably damaging |
Het |
Cdkl3 |
A |
T |
11: 51,924,369 (GRCm39) |
E552D |
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,245 (GRCm39) |
V125A |
probably benign |
Het |
Clock |
A |
T |
5: 76,414,692 (GRCm39) |
M1K |
probably null |
Het |
Cops7b |
T |
A |
1: 86,528,852 (GRCm39) |
L193Q |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,338,707 (GRCm39) |
T467A |
probably damaging |
Het |
Ctr9 |
A |
G |
7: 110,652,615 (GRCm39) |
E971G |
unknown |
Het |
Dcp2 |
A |
G |
18: 44,543,254 (GRCm39) |
T271A |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,172 (GRCm39) |
N2639S |
possibly damaging |
Het |
Fhip1a |
T |
C |
3: 85,637,784 (GRCm39) |
I172V |
probably benign |
Het |
Gm11168 |
C |
G |
9: 3,006,912 (GRCm39) |
C212W |
probably benign |
Het |
Gpr179 |
G |
T |
11: 97,242,420 (GRCm39) |
D141E |
probably damaging |
Het |
H2bc4 |
A |
G |
13: 23,868,342 (GRCm39) |
Y43C |
probably damaging |
Het |
Hdhd2 |
C |
T |
18: 77,031,811 (GRCm39) |
T89M |
probably benign |
Het |
Krt6b |
T |
G |
15: 101,587,513 (GRCm39) |
T194P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,266,030 (GRCm39) |
|
probably null |
Het |
Maneal |
A |
T |
4: 124,754,161 (GRCm39) |
I214N |
possibly damaging |
Het |
Map1lc3b |
T |
A |
8: 122,317,355 (GRCm39) |
C11S |
unknown |
Het |
Mapt |
G |
A |
11: 104,213,350 (GRCm39) |
G296E |
possibly damaging |
Het |
Mgam |
A |
G |
6: 40,640,459 (GRCm39) |
N509S |
probably benign |
Het |
Mrgprx1 |
T |
A |
7: 47,671,733 (GRCm39) |
I5F |
possibly damaging |
Het |
Mroh5 |
T |
C |
15: 73,659,583 (GRCm39) |
D416G |
probably benign |
Het |
Ncan |
T |
G |
8: 70,562,749 (GRCm39) |
D503A |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,547,185 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,298,351 (GRCm39) |
T641A |
probably benign |
Het |
Or2b6 |
T |
C |
13: 21,823,316 (GRCm39) |
I126V |
probably benign |
Het |
Or4k2 |
T |
A |
14: 50,424,015 (GRCm39) |
I221F |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,435 (GRCm39) |
D50E |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,439 (GRCm39) |
M34K |
possibly damaging |
Het |
Pcdhga8 |
A |
C |
18: 37,859,238 (GRCm39) |
Q98P |
possibly damaging |
Het |
Pik3c2a |
A |
G |
7: 115,953,242 (GRCm39) |
Y1218H |
probably damaging |
Het |
Ppp3cc |
A |
T |
14: 70,483,387 (GRCm39) |
S229T |
possibly damaging |
Het |
Prss43 |
T |
G |
9: 110,657,764 (GRCm39) |
I221S |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
Serpinb9f |
G |
T |
13: 33,518,543 (GRCm39) |
E348* |
probably null |
Het |
Sfxn5 |
A |
G |
6: 85,244,889 (GRCm39) |
Y169H |
probably damaging |
Het |
Skint9 |
T |
C |
4: 112,246,428 (GRCm39) |
N228S |
probably benign |
Het |
Slx4ip |
A |
T |
2: 136,842,162 (GRCm39) |
D29V |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,573,180 (GRCm39) |
G474V |
probably damaging |
Het |
Spata6 |
T |
A |
4: 111,638,017 (GRCm39) |
D282E |
possibly damaging |
Het |
Srek1 |
A |
T |
13: 103,905,890 (GRCm39) |
V77E |
probably damaging |
Het |
Timd6 |
A |
G |
11: 46,468,285 (GRCm39) |
T120A |
possibly damaging |
Het |
Tmt1a3 |
T |
C |
15: 100,233,289 (GRCm39) |
V160A |
probably benign |
Het |
Tnfrsf22 |
T |
C |
7: 143,194,564 (GRCm39) |
D121G |
probably damaging |
Het |
Ucma |
G |
A |
2: 4,990,170 (GRCm39) |
W122* |
probably null |
Het |
Vmn2r124 |
T |
C |
17: 18,282,306 (GRCm39) |
M113T |
unknown |
Het |
Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
Vwa3a |
T |
A |
7: 120,378,138 (GRCm39) |
I476N |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr26 |
A |
T |
1: 181,015,240 (GRCm39) |
S390R |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,728,205 (GRCm39) |
S471T |
probably benign |
Het |
|
Other mutations in Vmn2r8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02957:Vmn2r8
|
APN |
5 |
108,950,091 (GRCm39) |
missense |
probably benign |
0.01 |
R0324:Vmn2r8
|
UTSW |
5 |
108,945,807 (GRCm39) |
splice site |
probably null |
|
R0335:Vmn2r8
|
UTSW |
5 |
108,945,317 (GRCm39) |
splice site |
probably null |
|
R0394:Vmn2r8
|
UTSW |
5 |
108,949,938 (GRCm39) |
missense |
probably benign |
0.12 |
R0501:Vmn2r8
|
UTSW |
5 |
108,951,049 (GRCm39) |
missense |
probably benign |
0.03 |
R0615:Vmn2r8
|
UTSW |
5 |
108,947,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R0678:Vmn2r8
|
UTSW |
5 |
108,948,412 (GRCm39) |
missense |
probably benign |
0.00 |
R1167:Vmn2r8
|
UTSW |
5 |
108,951,042 (GRCm39) |
missense |
probably benign |
0.01 |
R1187:Vmn2r8
|
UTSW |
5 |
108,951,085 (GRCm39) |
nonsense |
probably null |
|
R1406:Vmn2r8
|
UTSW |
5 |
108,950,234 (GRCm39) |
missense |
probably benign |
|
R1406:Vmn2r8
|
UTSW |
5 |
108,950,234 (GRCm39) |
missense |
probably benign |
|
R1451:Vmn2r8
|
UTSW |
5 |
108,945,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Vmn2r8
|
UTSW |
5 |
108,950,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Vmn2r8
|
UTSW |
5 |
108,950,972 (GRCm39) |
missense |
probably benign |
|
R1874:Vmn2r8
|
UTSW |
5 |
108,950,284 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1908:Vmn2r8
|
UTSW |
5 |
108,945,436 (GRCm39) |
missense |
probably benign |
0.03 |
R1925:Vmn2r8
|
UTSW |
5 |
108,950,019 (GRCm39) |
missense |
probably damaging |
0.97 |
R1960:Vmn2r8
|
UTSW |
5 |
108,947,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Vmn2r8
|
UTSW |
5 |
108,945,961 (GRCm39) |
missense |
probably benign |
0.45 |
R1967:Vmn2r8
|
UTSW |
5 |
108,950,249 (GRCm39) |
missense |
probably benign |
0.01 |
R2095:Vmn2r8
|
UTSW |
5 |
108,956,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2159:Vmn2r8
|
UTSW |
5 |
108,950,169 (GRCm39) |
missense |
probably benign |
0.22 |
R4240:Vmn2r8
|
UTSW |
5 |
108,945,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R4581:Vmn2r8
|
UTSW |
5 |
108,949,570 (GRCm39) |
missense |
probably benign |
0.03 |
R4744:Vmn2r8
|
UTSW |
5 |
108,956,447 (GRCm39) |
missense |
probably benign |
0.00 |
R4755:Vmn2r8
|
UTSW |
5 |
108,949,566 (GRCm39) |
missense |
probably benign |
0.03 |
R4917:Vmn2r8
|
UTSW |
5 |
108,945,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Vmn2r8
|
UTSW |
5 |
108,947,129 (GRCm39) |
missense |
probably benign |
0.16 |
R5141:Vmn2r8
|
UTSW |
5 |
108,956,572 (GRCm39) |
missense |
probably damaging |
0.96 |
R5481:Vmn2r8
|
UTSW |
5 |
108,949,636 (GRCm39) |
missense |
probably benign |
0.09 |
R5571:Vmn2r8
|
UTSW |
5 |
108,950,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Vmn2r8
|
UTSW |
5 |
108,950,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R6003:Vmn2r8
|
UTSW |
5 |
108,945,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Vmn2r8
|
UTSW |
5 |
108,947,211 (GRCm39) |
missense |
probably benign |
0.01 |
R6265:Vmn2r8
|
UTSW |
5 |
108,956,463 (GRCm39) |
missense |
probably benign |
|
R6315:Vmn2r8
|
UTSW |
5 |
108,949,757 (GRCm39) |
missense |
probably benign |
|
R6413:Vmn2r8
|
UTSW |
5 |
108,949,589 (GRCm39) |
missense |
probably benign |
0.09 |
R7120:Vmn2r8
|
UTSW |
5 |
108,956,504 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7409:Vmn2r8
|
UTSW |
5 |
108,956,449 (GRCm39) |
nonsense |
probably null |
|
R7489:Vmn2r8
|
UTSW |
5 |
108,945,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7532:Vmn2r8
|
UTSW |
5 |
108,950,106 (GRCm39) |
missense |
probably benign |
0.22 |
R7534:Vmn2r8
|
UTSW |
5 |
108,950,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7739:Vmn2r8
|
UTSW |
5 |
108,950,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R8099:Vmn2r8
|
UTSW |
5 |
108,949,700 (GRCm39) |
missense |
probably benign |
|
R8245:Vmn2r8
|
UTSW |
5 |
108,945,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R8711:Vmn2r8
|
UTSW |
5 |
108,945,962 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8781:Vmn2r8
|
UTSW |
5 |
108,945,597 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8874:Vmn2r8
|
UTSW |
5 |
108,956,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Vmn2r8
|
UTSW |
5 |
108,950,131 (GRCm39) |
missense |
|
|
R8928:Vmn2r8
|
UTSW |
5 |
108,950,131 (GRCm39) |
missense |
|
|
R9288:Vmn2r8
|
UTSW |
5 |
108,950,185 (GRCm39) |
missense |
probably benign |
0.39 |
R9596:Vmn2r8
|
UTSW |
5 |
108,947,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9652:Vmn2r8
|
UTSW |
5 |
108,951,107 (GRCm39) |
missense |
probably benign |
0.18 |
Z1088:Vmn2r8
|
UTSW |
5 |
108,949,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATAACTGAATCTGGAGAAAGATTTC -3'
(R):5'- GATGCATCTCACTTAGGTGGC -3'
Sequencing Primer
(F):5'- TGAATCCAGAGGTCTTTGATCTC -3'
(R):5'- GTGGCTTCCATGCTGAAATCCAG -3'
|
Posted On |
2019-10-07 |