Incidental Mutation 'R7263:Vmn2r84'
| ID |
564761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r84
|
| Ensembl Gene |
ENSMUSG00000070601 |
| Gene Name |
vomeronasal 2, receptor 84 |
| Synonyms |
EG625068 |
| MMRRC Submission |
045388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R7263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
130221669-130230110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130225077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 478
(K478E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094502]
|
| AlphaFold |
D3YWE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094502
AA Change: K478E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092079
Gene: ENSMUSG00000070601
AA Change: K478E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
A |
3: 121,847,843 (GRCm39) |
H55N |
probably damaging |
Het |
| Acan |
G |
T |
7: 78,742,066 (GRCm39) |
V488L |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,521,240 (GRCm39) |
E638G |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,220,772 (GRCm39) |
Q1387L |
possibly damaging |
Het |
| Adamts3 |
G |
T |
5: 89,825,601 (GRCm39) |
D1079E |
probably benign |
Het |
| Barx1 |
G |
T |
13: 48,818,555 (GRCm39) |
G93C |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,419,677 (GRCm39) |
R828C |
probably damaging |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Ccdc159 |
T |
C |
9: 21,843,007 (GRCm39) |
M148T |
probably benign |
Het |
| Cdk5rap1 |
T |
A |
2: 154,202,652 (GRCm39) |
N193Y |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,470,332 (GRCm39) |
G15D |
probably damaging |
Het |
| Dach1 |
T |
C |
14: 98,406,295 (GRCm39) |
S151G |
probably benign |
Het |
| Elf5 |
C |
A |
2: 103,269,645 (GRCm39) |
N75K |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,802,782 (GRCm39) |
D272G |
probably damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,337,043 (GRCm39) |
|
probably null |
Het |
| Epha6 |
A |
G |
16: 59,596,028 (GRCm39) |
Y888H |
probably damaging |
Het |
| Fibcd1 |
T |
C |
2: 31,707,222 (GRCm39) |
Y345C |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 102,690,963 (GRCm39) |
E347K |
possibly damaging |
Het |
| Gse1 |
A |
G |
8: 121,300,910 (GRCm39) |
D892G |
unknown |
Het |
| Gtpbp6 |
A |
T |
5: 110,251,915 (GRCm39) |
I506N |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,311,668 (GRCm39) |
F1303I |
possibly damaging |
Het |
| Il21r |
A |
G |
7: 125,232,077 (GRCm39) |
T502A |
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,749,834 (GRCm39) |
T997A |
possibly damaging |
Het |
| Invs |
C |
A |
4: 48,396,381 (GRCm39) |
N351K |
probably damaging |
Het |
| Iqcm |
A |
G |
8: 76,489,701 (GRCm39) |
T390A |
probably benign |
Het |
| Iqcn |
A |
G |
8: 71,163,425 (GRCm39) |
N873D |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,632,643 (GRCm39) |
G948D |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,566,314 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
A |
G |
12: 36,258,611 (GRCm39) |
V82A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,271,943 (GRCm39) |
L6535Q |
probably damaging |
Het |
| Ncor2 |
G |
C |
5: 125,109,196 (GRCm39) |
L585V |
|
Het |
| Nipal2 |
G |
C |
15: 34,578,904 (GRCm39) |
Y298* |
probably null |
Het |
| Nipsnap1 |
C |
T |
11: 4,832,960 (GRCm39) |
|
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,022,476 (GRCm39) |
C148* |
probably null |
Het |
| Or4x12-ps1 |
T |
C |
2: 89,916,332 (GRCm39) |
I158V |
not run |
Het |
| Or51g1 |
A |
T |
7: 102,633,524 (GRCm39) |
Y282* |
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,873 (GRCm39) |
T474I |
probably benign |
Het |
| Pdp1 |
G |
T |
4: 11,960,821 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,017,940 (GRCm39) |
P934L |
probably damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,358 (GRCm39) |
I236T |
probably benign |
Het |
| Pygm |
G |
A |
19: 6,438,357 (GRCm39) |
R278H |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,520,363 (GRCm39) |
C215* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,015,789 (GRCm39) |
S1156P |
possibly damaging |
Het |
| Rgs9bp |
T |
C |
7: 35,284,126 (GRCm39) |
T174A |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,667 (GRCm39) |
Y130* |
probably null |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,022,923 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,885,587 (GRCm39) |
Y200N |
probably damaging |
Het |
| Slc22a22 |
C |
A |
15: 57,113,107 (GRCm39) |
M377I |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,633,452 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
A |
G |
18: 24,734,260 (GRCm39) |
V143A |
probably benign |
Het |
| Slf2 |
G |
A |
19: 44,926,863 (GRCm39) |
|
probably null |
Het |
| Sowaha |
T |
C |
11: 53,370,485 (GRCm39) |
K84E |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,653,098 (GRCm39) |
|
probably null |
Het |
| Sphkap |
A |
T |
1: 83,254,399 (GRCm39) |
F1117I |
probably damaging |
Het |
| Tas2r113 |
T |
C |
6: 132,870,539 (GRCm39) |
I189T |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,033,247 (GRCm39) |
E26G |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,854,150 (GRCm39) |
I1847F |
probably damaging |
Het |
| Uba1y |
T |
A |
Y: 822,200 (GRCm39) |
C178S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,175,526 (GRCm39) |
V1208D |
possibly damaging |
Het |
| Usp13 |
G |
C |
3: 32,949,000 (GRCm39) |
A446P |
probably damaging |
Het |
| Usp7 |
A |
T |
16: 8,514,588 (GRCm39) |
C722S |
possibly damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,535 (GRCm39) |
S280G |
probably benign |
Het |
| Zfp112 |
C |
A |
7: 23,824,952 (GRCm39) |
L311I |
probably benign |
Het |
| Zfp180 |
G |
T |
7: 23,805,125 (GRCm39) |
E515* |
probably null |
Het |
| Zfp518b |
A |
G |
5: 38,829,671 (GRCm39) |
I778T |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,662 (GRCm39) |
H434Q |
probably benign |
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 |
|
R3508:Vmn2r84
|
UTSW |
10 |
130,226,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAAGTGAAAACCTTGAATCTGGAG -3'
(R):5'- GGGAAATTCTCAACTTTGCACTC -3'
Sequencing Primer
(F):5'- AATCCAGAGGCCTTTGATGC -3'
(R):5'- CCTGTTGGAGAAATGGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation