Incidental Mutation 'R6003:Vmn2r8'
ID |
478458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r8
|
Ensembl Gene |
ENSMUSG00000090961 |
Gene Name |
vomeronasal 2, receptor 8 |
Synonyms |
EG627479 |
MMRRC Submission |
043252-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
108945059-108956620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108945248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 786
(S786R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004943]
[ENSMUST00000172140]
|
AlphaFold |
L7N472 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004943
|
SMART Domains |
Protein: ENSMUSP00000004943 Gene: ENSMUSG00000004821
Domain | Start | End | E-Value | Type |
EMP24_GP25L
|
17 |
210 |
1.11e-59 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172140
AA Change: S786R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126953 Gene: ENSMUSG00000090961 AA Change: S786R
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
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 |
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 |
R7406:Vmn2r8
|
UTSW |
5 |
108,948,442 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TGTGCTGCCCTACATTATAAGTAC -3'
(R):5'- TCCTCCCTTTATTGACAGAGAAAC -3'
Sequencing Primer
(F):5'- GGCAATTTATCTTTGTACTTCTGCAG -3'
(R):5'- CCCTTTATTGACAGAGAAACACAATC -3'
|
Posted On |
2017-06-26 |