Incidental Mutation 'R8245:Vmn2r8'
| ID |
640805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r8
|
| Ensembl Gene |
ENSMUSG00000090961 |
| Gene Name |
vomeronasal 2, receptor 8 |
| Synonyms |
EG627479 |
| MMRRC Submission |
067673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108945059-108956620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108945936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 557
(D557G)
|
| 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: D557G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: D557G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,539,870 (GRCm39) |
|
probably null |
Het |
| Adam4 |
A |
T |
12: 81,466,657 (GRCm39) |
C655S |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,880,568 (GRCm39) |
D717A |
probably damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,019,262 (GRCm39) |
N30S |
possibly damaging |
Het |
| Bmp8b |
T |
C |
4: 123,008,532 (GRCm39) |
V166A |
probably benign |
Het |
| Bpifb9a |
G |
A |
2: 154,104,646 (GRCm39) |
G261R |
probably benign |
Het |
| Cdipt |
G |
T |
7: 126,578,732 (GRCm39) |
M174I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,419 (GRCm39) |
T1063A |
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,404 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,024,408 (GRCm39) |
S217P |
unknown |
Het |
| Cnot2 |
T |
A |
10: 116,346,294 (GRCm39) |
I103F |
probably benign |
Het |
| Col27a1 |
T |
G |
4: 63,144,040 (GRCm39) |
V576G |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,710 (GRCm39) |
H566Q |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,478,637 (GRCm39) |
C261S |
possibly damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,886,934 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,246,673 (GRCm39) |
F1293Y |
probably damaging |
Het |
| Fsip1 |
T |
A |
2: 118,075,359 (GRCm39) |
K218M |
unknown |
Het |
| Fsip2 |
G |
T |
2: 82,811,346 (GRCm39) |
S2555I |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,785 (GRCm39) |
K358E |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,598 (GRCm38) |
V1D |
noncoding transcript |
Het |
| H2-M10.6 |
T |
C |
17: 37,124,155 (GRCm39) |
|
probably null |
Het |
| Hand2 |
A |
G |
8: 57,774,994 (GRCm39) |
Y18C |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,895 (GRCm39) |
V607E |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,485 (GRCm39) |
R862* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,883 (GRCm39) |
D90G |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,633 (GRCm39) |
N280S |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itpr2 |
T |
A |
6: 146,274,604 (GRCm39) |
K859N |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,766,179 (GRCm39) |
A212D |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,162,229 (GRCm39) |
T322I |
unknown |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,648 (GRCm39) |
D71G |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,214,434 (GRCm39) |
S641T |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,863,080 (GRCm39) |
N37I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,913,066 (GRCm39) |
I271F |
|
Het |
| Or2ag16 |
T |
C |
7: 106,352,374 (GRCm39) |
T74A |
probably benign |
Het |
| Or4d2b |
G |
A |
11: 87,780,443 (GRCm39) |
S93F |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,975 (GRCm39) |
S247P |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,126 (GRCm39) |
Y168H |
probably benign |
Het |
| Or9g4b |
A |
G |
2: 85,616,119 (GRCm39) |
E88G |
probably benign |
Het |
| Oxa1l |
T |
C |
14: 54,605,274 (GRCm39) |
S317P |
probably damaging |
Het |
| Poglut2 |
A |
T |
1: 44,156,226 (GRCm39) |
H120Q |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,630,779 (GRCm39) |
R1213H |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,283,468 (GRCm39) |
S516C |
probably null |
Het |
| Rabep2 |
A |
G |
7: 126,039,580 (GRCm39) |
T336A |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,285,256 (GRCm39) |
C585Y |
probably damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,350 (GRCm39) |
S276P |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCTGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,099,789 (GRCm39) |
L160P |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,492 (GRCm39) |
F419S |
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,811,946 (GRCm39) |
T808K |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,604,931 (GRCm39) |
N201K |
possibly damaging |
Het |
| Stat1 |
G |
A |
1: 52,194,178 (GRCm39) |
R704Q |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,331,303 (GRCm39) |
D2236G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,379,592 (GRCm39) |
Y944F |
|
Het |
| Tmem225 |
G |
T |
9: 40,061,955 (GRCm39) |
V190F |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,521,022 (GRCm39) |
V400D |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,022,712 (GRCm39) |
G971D |
probably damaging |
Het |
| Trh |
C |
T |
6: 92,220,050 (GRCm39) |
V89I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,717,205 (GRCm39) |
D404G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,204,645 (GRCm39) |
V990A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,396 (GRCm39) |
Y196N |
possibly damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
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 |
|
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 |
|
|
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'- TTGGCCTTCACAATGGGAGTATC -3'
(R):5'- TGTTCCATTCCCTATGATGGTG -3'
Sequencing Primer
(F):5'- CAATGGGAGTATCCTTGTACTTCAC -3'
(R):5'- GATGGTGTTTTGTTCTATCACAAAGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation