Incidental Mutation 'R3508:Vmn2r84'
ID |
267472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r84
|
Ensembl Gene |
ENSMUSG00000070601 |
Gene Name |
vomeronasal 2, receptor 84 |
Synonyms |
EG625068 |
MMRRC Submission |
040664-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R3508 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
130221669-130230110 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130226777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 354
(N354D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094502]
|
AlphaFold |
D3YWE3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094502
AA Change: N354D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092079 Gene: ENSMUSG00000070601 AA Change: N354D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
77 |
448 |
1.3e-27 |
PFAM |
Pfam:NCD3G
|
508 |
561 |
6.9e-21 |
PFAM |
Pfam:7tm_3
|
594 |
830 |
4.6e-55 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,953,991 (GRCm39) |
F816L |
probably benign |
Het |
Adgrl3 |
C |
A |
5: 81,872,103 (GRCm39) |
N932K |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,633,643 (GRCm39) |
E311G |
probably damaging |
Het |
Atad2b |
G |
A |
12: 5,000,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
G |
13: 24,203,659 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,217,576 (GRCm39) |
S332P |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,114,030 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
A |
10: 92,721,286 (GRCm39) |
S2482C |
unknown |
Het |
Cnpy1 |
T |
C |
5: 28,412,365 (GRCm39) |
E107G |
probably damaging |
Het |
Crtac1 |
C |
T |
19: 42,293,180 (GRCm39) |
V310I |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Elmo1 |
T |
C |
13: 20,789,402 (GRCm39) |
I706T |
probably damaging |
Het |
F12 |
T |
C |
13: 55,568,872 (GRCm39) |
T297A |
probably benign |
Het |
Fanci |
A |
G |
7: 79,083,220 (GRCm39) |
I736V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,148,247 (GRCm39) |
N2667S |
probably benign |
Het |
Flt4 |
T |
C |
11: 49,524,941 (GRCm39) |
S596P |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,983,940 (GRCm39) |
R1329* |
probably null |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
H2-M10.1 |
T |
G |
17: 36,636,506 (GRCm39) |
R99S |
possibly damaging |
Het |
Homer3 |
T |
A |
8: 70,744,005 (GRCm39) |
V243D |
probably benign |
Het |
Hspa14 |
A |
G |
2: 3,492,045 (GRCm39) |
S437P |
probably damaging |
Het |
Inpp1 |
A |
T |
1: 52,838,550 (GRCm39) |
I33N |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,176,956 (GRCm39) |
Y714N |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,461,026 (GRCm39) |
E898G |
possibly damaging |
Het |
Klhdc7b |
T |
A |
15: 89,271,095 (GRCm39) |
M1K |
probably null |
Het |
Krt87 |
A |
G |
15: 101,386,039 (GRCm39) |
Y241H |
probably benign |
Het |
Mfsd4b1 |
A |
G |
10: 39,878,715 (GRCm39) |
I394T |
probably benign |
Het |
Micall1 |
A |
G |
15: 79,006,965 (GRCm39) |
D264G |
probably damaging |
Het |
Mms22l |
T |
G |
4: 24,586,224 (GRCm39) |
D905E |
probably benign |
Het |
Musk |
A |
G |
4: 58,327,347 (GRCm39) |
D217G |
probably damaging |
Het |
Napb |
T |
C |
2: 148,540,880 (GRCm39) |
T236A |
probably benign |
Het |
Nbn |
T |
A |
4: 15,962,387 (GRCm39) |
D38E |
probably damaging |
Het |
Ncaph |
T |
C |
2: 126,969,113 (GRCm39) |
N87D |
probably benign |
Het |
Or4a78 |
A |
G |
2: 89,497,816 (GRCm39) |
V138A |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,576,204 (GRCm39) |
V194E |
probably damaging |
Het |
Pck1 |
T |
C |
2: 173,000,177 (GRCm39) |
V536A |
possibly damaging |
Het |
Pld5 |
C |
T |
1: 175,821,603 (GRCm39) |
G188S |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
Pnkd |
A |
G |
1: 74,389,793 (GRCm39) |
T306A |
probably benign |
Het |
Ppm1k |
T |
C |
6: 57,491,975 (GRCm39) |
E279G |
probably damaging |
Het |
Ppm1l |
G |
T |
3: 69,456,813 (GRCm39) |
K243N |
possibly damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,838,801 (GRCm39) |
T26A |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,964,202 (GRCm39) |
V67A |
probably benign |
Het |
Rxfp4 |
T |
C |
3: 88,559,899 (GRCm39) |
E184G |
probably damaging |
Het |
Scp2d1 |
A |
G |
2: 144,665,918 (GRCm39) |
I86V |
probably benign |
Het |
Sec16a |
G |
T |
2: 26,315,862 (GRCm39) |
P1718Q |
probably damaging |
Het |
Sgcg |
T |
A |
14: 61,459,195 (GRCm39) |
T245S |
probably benign |
Het |
Slc18a2 |
A |
G |
19: 59,261,989 (GRCm39) |
T215A |
probably benign |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,378 (GRCm39) |
P146Q |
probably damaging |
Het |
Spata31d1e |
A |
T |
13: 59,890,319 (GRCm39) |
Y500* |
probably null |
Het |
Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,536,478 (GRCm39) |
E616V |
probably damaging |
Het |
Tk2 |
C |
T |
8: 104,957,825 (GRCm39) |
V174I |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,244,618 (GRCm39) |
V499I |
probably benign |
Het |
Tonsl |
T |
C |
15: 76,523,956 (GRCm39) |
T15A |
probably benign |
Het |
Ttll12 |
A |
G |
15: 83,464,831 (GRCm39) |
I448T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,584,101 (GRCm39) |
S22336P |
probably damaging |
Het |
Ubap1 |
C |
A |
4: 41,379,163 (GRCm39) |
H126N |
probably damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vpreb3 |
A |
C |
10: 75,785,037 (GRCm39) |
H45P |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,546,380 (GRCm39) |
Y160* |
probably null |
Het |
|
Other mutations in Vmn2r84 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01461:Vmn2r84
|
APN |
10 |
130,227,094 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01590:Vmn2r84
|
APN |
10 |
130,221,964 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01639:Vmn2r84
|
APN |
10 |
130,225,141 (GRCm39) |
nonsense |
probably null |
|
IGL01843:Vmn2r84
|
APN |
10 |
130,222,148 (GRCm39) |
missense |
probably benign |
|
IGL01911:Vmn2r84
|
APN |
10 |
130,222,277 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01937:Vmn2r84
|
APN |
10 |
130,221,755 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01977:Vmn2r84
|
APN |
10 |
130,229,935 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02177:Vmn2r84
|
APN |
10 |
130,227,881 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02291:Vmn2r84
|
APN |
10 |
130,226,617 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02590:Vmn2r84
|
APN |
10 |
130,227,356 (GRCm39) |
splice site |
probably benign |
|
IGL02727:Vmn2r84
|
APN |
10 |
130,229,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02900:Vmn2r84
|
APN |
10 |
130,223,861 (GRCm39) |
splice site |
probably benign |
|
IGL03383:Vmn2r84
|
APN |
10 |
130,222,556 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Vmn2r84
|
UTSW |
10 |
130,221,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Vmn2r84
|
UTSW |
10 |
130,230,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Vmn2r84
|
UTSW |
10 |
130,222,588 (GRCm39) |
splice site |
probably benign |
|
R0153:Vmn2r84
|
UTSW |
10 |
130,227,877 (GRCm39) |
missense |
probably benign |
0.06 |
R0611:Vmn2r84
|
UTSW |
10 |
130,221,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Vmn2r84
|
UTSW |
10 |
130,226,984 (GRCm39) |
missense |
probably damaging |
0.99 |
R1237:Vmn2r84
|
UTSW |
10 |
130,223,725 (GRCm39) |
splice site |
probably null |
|
R1295:Vmn2r84
|
UTSW |
10 |
130,225,008 (GRCm39) |
missense |
probably benign |
0.12 |
R1401:Vmn2r84
|
UTSW |
10 |
130,227,859 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1521:Vmn2r84
|
UTSW |
10 |
130,225,137 (GRCm39) |
missense |
probably benign |
0.10 |
R1590:Vmn2r84
|
UTSW |
10 |
130,227,349 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1710:Vmn2r84
|
UTSW |
10 |
130,226,968 (GRCm39) |
missense |
probably benign |
0.02 |
R1891:Vmn2r84
|
UTSW |
10 |
130,221,938 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1956:Vmn2r84
|
UTSW |
10 |
130,226,677 (GRCm39) |
missense |
probably benign |
0.01 |
R1957:Vmn2r84
|
UTSW |
10 |
130,226,677 (GRCm39) |
missense |
probably benign |
0.01 |
R1962:Vmn2r84
|
UTSW |
10 |
130,226,591 (GRCm39) |
missense |
probably damaging |
0.99 |
R1994:Vmn2r84
|
UTSW |
10 |
130,221,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Vmn2r84
|
UTSW |
10 |
130,227,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R2409:Vmn2r84
|
UTSW |
10 |
130,227,940 (GRCm39) |
missense |
probably damaging |
0.99 |
R2474:Vmn2r84
|
UTSW |
10 |
130,222,392 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2851:Vmn2r84
|
UTSW |
10 |
130,230,036 (GRCm39) |
missense |
probably benign |
0.05 |
R3792:Vmn2r84
|
UTSW |
10 |
130,221,669 (GRCm39) |
makesense |
probably null |
|
R4051:Vmn2r84
|
UTSW |
10 |
130,226,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R4061:Vmn2r84
|
UTSW |
10 |
130,221,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R4091:Vmn2r84
|
UTSW |
10 |
130,227,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R4190:Vmn2r84
|
UTSW |
10 |
130,227,163 (GRCm39) |
nonsense |
probably null |
|
R4520:Vmn2r84
|
UTSW |
10 |
130,222,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Vmn2r84
|
UTSW |
10 |
130,226,582 (GRCm39) |
missense |
probably benign |
0.00 |
R4588:Vmn2r84
|
UTSW |
10 |
130,221,809 (GRCm39) |
missense |
probably damaging |
0.98 |
R4655:Vmn2r84
|
UTSW |
10 |
130,229,973 (GRCm39) |
nonsense |
probably null |
|
R4860:Vmn2r84
|
UTSW |
10 |
130,221,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R4860:Vmn2r84
|
UTSW |
10 |
130,221,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R5022:Vmn2r84
|
UTSW |
10 |
130,222,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R5146:Vmn2r84
|
UTSW |
10 |
130,221,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R5237:Vmn2r84
|
UTSW |
10 |
130,221,863 (GRCm39) |
missense |
probably damaging |
0.99 |
R5695:Vmn2r84
|
UTSW |
10 |
130,225,064 (GRCm39) |
missense |
probably benign |
0.12 |
R5793:Vmn2r84
|
UTSW |
10 |
130,221,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R6210:Vmn2r84
|
UTSW |
10 |
130,222,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6286:Vmn2r84
|
UTSW |
10 |
130,226,737 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6580:Vmn2r84
|
UTSW |
10 |
130,225,110 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6607:Vmn2r84
|
UTSW |
10 |
130,226,731 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6818:Vmn2r84
|
UTSW |
10 |
130,222,147 (GRCm39) |
missense |
probably benign |
0.09 |
R6956:Vmn2r84
|
UTSW |
10 |
130,225,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R6994:Vmn2r84
|
UTSW |
10 |
130,226,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7075:Vmn2r84
|
UTSW |
10 |
130,226,941 (GRCm39) |
missense |
probably damaging |
0.99 |
R7225:Vmn2r84
|
UTSW |
10 |
130,222,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R7252:Vmn2r84
|
UTSW |
10 |
130,222,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7263:Vmn2r84
|
UTSW |
10 |
130,225,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R7297:Vmn2r84
|
UTSW |
10 |
130,227,119 (GRCm39) |
missense |
probably benign |
0.19 |
R7439:Vmn2r84
|
UTSW |
10 |
130,227,982 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7441:Vmn2r84
|
UTSW |
10 |
130,227,982 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7857:Vmn2r84
|
UTSW |
10 |
130,226,738 (GRCm39) |
missense |
probably benign |
0.00 |
R8263:Vmn2r84
|
UTSW |
10 |
130,227,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R8555:Vmn2r84
|
UTSW |
10 |
130,230,100 (GRCm39) |
missense |
probably benign |
0.28 |
R8766:Vmn2r84
|
UTSW |
10 |
130,222,241 (GRCm39) |
missense |
probably damaging |
0.98 |
R8821:Vmn2r84
|
UTSW |
10 |
130,226,968 (GRCm39) |
missense |
probably benign |
0.02 |
R8831:Vmn2r84
|
UTSW |
10 |
130,226,968 (GRCm39) |
missense |
probably benign |
0.02 |
R8970:Vmn2r84
|
UTSW |
10 |
130,222,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R9164:Vmn2r84
|
UTSW |
10 |
130,221,669 (GRCm39) |
makesense |
probably null |
|
R9190:Vmn2r84
|
UTSW |
10 |
130,226,843 (GRCm39) |
missense |
probably benign |
0.03 |
R9261:Vmn2r84
|
UTSW |
10 |
130,229,976 (GRCm39) |
missense |
probably benign |
0.00 |
R9310:Vmn2r84
|
UTSW |
10 |
130,227,993 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9434:Vmn2r84
|
UTSW |
10 |
130,221,745 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9613:Vmn2r84
|
UTSW |
10 |
130,226,591 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Vmn2r84
|
UTSW |
10 |
130,227,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTTACCTGCTGACATTCTGTG -3'
(R):5'- TCACAACCTCACAATGGGATG -3'
Sequencing Primer
(F):5'- GACTCTACTTGTTGAAGAATGTGCTC -3'
(R):5'- ACCTCACAATGGGATGTTATCAC -3'
|
Posted On |
2015-02-18 |