Incidental Mutation 'R8678:Vmn2r3'
| ID |
661499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r3
|
| Ensembl Gene |
ENSMUSG00000091572 |
| Gene Name |
vomeronasal 2, receptor 3 |
| Synonyms |
EG637004 |
| MMRRC Submission |
068533-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64166225-64197130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64166896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 745
(E745G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170244]
[ENSMUST00000176328]
|
| AlphaFold |
H3BJ88 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170244
AA Change: E717G
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126165
Gene: ENSMUSG00000091572
AA Change: E717G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
64 |
479 |
4e-64 |
PFAM |
|
Pfam:NCD3G
|
521 |
574 |
1.1e-17 |
PFAM |
|
Pfam:7tm_3
|
605 |
842 |
2.9e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176328
AA Change: E745G
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134891
Gene: ENSMUSG00000091572
AA Change: E745G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
92 |
507 |
9.5e-66 |
PFAM |
|
Pfam:NCD3G
|
549 |
602 |
8.8e-17 |
PFAM |
|
Pfam:7tm_3
|
635 |
869 |
8.5e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
T |
16: 20,184,685 (GRCm39) |
M991I |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,340,032 (GRCm39) |
Y814* |
probably null |
Het |
| Alg2 |
A |
G |
4: 47,474,108 (GRCm39) |
F60S |
probably damaging |
Het |
| Aoc1l1 |
C |
T |
6: 48,953,158 (GRCm39) |
T361I |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,539 (GRCm39) |
L228P |
probably damaging |
Het |
| Bnip1 |
T |
A |
17: 27,008,923 (GRCm39) |
|
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,625,925 (GRCm39) |
L222P |
probably damaging |
Het |
| Calb2 |
A |
T |
8: 110,874,275 (GRCm39) |
V182E |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,295,636 (GRCm39) |
I1645F |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,811,551 (GRCm39) |
D656G |
unknown |
Het |
| Csmd3 |
A |
G |
15: 47,499,849 (GRCm39) |
S2096P |
|
Het |
| Cyp2c70 |
A |
T |
19: 40,156,016 (GRCm39) |
I178N |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,004,759 (GRCm39) |
Q936* |
probably null |
Het |
| Dnaaf3 |
A |
T |
7: 4,533,814 (GRCm39) |
F94Y |
probably damaging |
Het |
| Eid2b |
C |
T |
7: 27,977,480 (GRCm39) |
T92I |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,306,027 (GRCm39) |
|
probably null |
Het |
| Fank1 |
G |
A |
7: 133,463,957 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,312,376 (GRCm39) |
E324* |
probably null |
Het |
| Fcnb |
A |
G |
2: 27,968,361 (GRCm39) |
F199L |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,630,822 (GRCm39) |
D300G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,173,260 (GRCm39) |
S133G |
probably null |
Het |
| Ighv5-8 |
TATACAT |
TAT |
12: 113,618,583 (GRCm39) |
|
probably benign |
Het |
| Irak4 |
A |
G |
15: 94,464,666 (GRCm39) |
D412G |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,936,997 (GRCm39) |
I126N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,098 (GRCm39) |
E2841G |
|
Het |
| Lmtk3 |
T |
A |
7: 45,435,975 (GRCm39) |
C85* |
probably null |
Het |
| Madd |
T |
C |
2: 91,006,610 (GRCm39) |
Y328C |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,137,737 (GRCm39) |
R2851L |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,955 (GRCm39) |
D766G |
probably damaging |
Het |
| Mei4 |
T |
A |
9: 81,809,638 (GRCm39) |
F240L |
probably damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,472 (GRCm39) |
Y433F |
possibly damaging |
Het |
| Muc20 |
T |
A |
16: 32,617,789 (GRCm39) |
|
probably benign |
Het |
| Nat8f1 |
A |
G |
6: 85,887,738 (GRCm39) |
V74A |
probably benign |
Het |
| Nfe2l3 |
A |
G |
6: 51,435,153 (GRCm39) |
D571G |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,163,284 (GRCm39) |
L480S |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,280 (GRCm39) |
V248A |
probably damaging |
Het |
| Or4c122 |
T |
A |
2: 89,079,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or8j3b |
C |
T |
2: 86,205,069 (GRCm39) |
R229H |
probably benign |
Het |
| Parp10 |
C |
A |
15: 76,117,599 (GRCm39) |
C929F |
probably damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,939 (GRCm39) |
E356G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,623,468 (GRCm39) |
R600* |
probably null |
Het |
| Ppp1r13l |
C |
A |
7: 19,109,697 (GRCm39) |
T706K |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,598,942 (GRCm39) |
R334Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,280,364 (GRCm39) |
Q188R |
probably benign |
Het |
| Pramel26 |
C |
A |
4: 143,538,576 (GRCm39) |
A132S |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,526,796 (GRCm39) |
|
probably null |
Het |
| Prss33 |
T |
C |
17: 24,053,723 (GRCm39) |
D118G |
probably benign |
Het |
| Rab3gap2 |
T |
G |
1: 184,983,281 (GRCm39) |
I473M |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,103 (GRCm39) |
E97G |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,998 (GRCm39) |
M1775T |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,776,489 (GRCm39) |
M2216L |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,574,041 (GRCm39) |
|
probably benign |
Het |
| Slc31a2 |
G |
A |
4: 62,210,896 (GRCm39) |
V12M |
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,646 (GRCm39) |
Y177H |
probably damaging |
Het |
| Slfn9 |
T |
A |
11: 82,872,370 (GRCm39) |
M789L |
probably benign |
Het |
| Srf |
A |
G |
17: 46,861,825 (GRCm39) |
|
probably null |
Het |
| Tank |
A |
G |
2: 61,457,287 (GRCm39) |
E81G |
probably damaging |
Het |
| Tia1 |
T |
A |
6: 86,402,685 (GRCm39) |
M241K |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,681,709 (GRCm39) |
S423* |
probably null |
Het |
| Tubg1 |
T |
G |
11: 101,015,264 (GRCm39) |
S237A |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,942,785 (GRCm39) |
P358S |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,314,391 (GRCm39) |
I197F |
probably benign |
Het |
| Vps37d |
C |
A |
5: 135,105,386 (GRCm39) |
R79L |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,910,768 (GRCm39) |
L720Q |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,048 (GRCm39) |
N498S |
probably benign |
Het |
| Zc2hc1c |
A |
T |
12: 85,337,084 (GRCm39) |
E247V |
probably benign |
Het |
|
| Other mutations in Vmn2r3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Vmn2r3
|
APN |
3 |
64,167,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Vmn2r3
|
APN |
3 |
64,182,382 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02032:Vmn2r3
|
APN |
3 |
64,182,476 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02405:Vmn2r3
|
APN |
3 |
64,178,620 (GRCm39) |
splice site |
probably benign |
|
|
IGL02640:Vmn2r3
|
APN |
3 |
64,194,816 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Vmn2r3
|
APN |
3 |
64,183,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Vmn2r3
|
APN |
3 |
64,167,239 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02952:Vmn2r3
|
APN |
3 |
64,186,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Vmn2r3
|
APN |
3 |
64,182,767 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
G1citation:Vmn2r3
|
UTSW |
3 |
64,194,876 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0023:Vmn2r3
|
UTSW |
3 |
64,182,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0433:Vmn2r3
|
UTSW |
3 |
64,183,054 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0647:Vmn2r3
|
UTSW |
3 |
64,183,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Vmn2r3
|
UTSW |
3 |
64,182,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1536:Vmn2r3
|
UTSW |
3 |
64,182,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Vmn2r3
|
UTSW |
3 |
64,194,810 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1806:Vmn2r3
|
UTSW |
3 |
64,182,893 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1852:Vmn2r3
|
UTSW |
3 |
64,166,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Vmn2r3
|
UTSW |
3 |
64,166,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Vmn2r3
|
UTSW |
3 |
64,182,493 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2240:Vmn2r3
|
UTSW |
3 |
64,166,483 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2446:Vmn2r3
|
UTSW |
3 |
64,182,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Vmn2r3
|
UTSW |
3 |
64,183,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4159:Vmn2r3
|
UTSW |
3 |
64,194,850 (GRCm39) |
nonsense |
probably null |
|
|
R4494:Vmn2r3
|
UTSW |
3 |
64,182,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Vmn2r3
|
UTSW |
3 |
64,183,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4895:Vmn2r3
|
UTSW |
3 |
64,167,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4912:Vmn2r3
|
UTSW |
3 |
64,166,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5018:Vmn2r3
|
UTSW |
3 |
64,178,774 (GRCm39) |
missense |
probably benign |
|
|
R5033:Vmn2r3
|
UTSW |
3 |
64,167,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5126:Vmn2r3
|
UTSW |
3 |
64,166,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Vmn2r3
|
UTSW |
3 |
64,186,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Vmn2r3
|
UTSW |
3 |
64,166,978 (GRCm39) |
nonsense |
probably null |
|
|
R5785:Vmn2r3
|
UTSW |
3 |
64,166,444 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5905:Vmn2r3
|
UTSW |
3 |
64,182,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5992:Vmn2r3
|
UTSW |
3 |
64,167,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Vmn2r3
|
UTSW |
3 |
64,182,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6331:Vmn2r3
|
UTSW |
3 |
64,186,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Vmn2r3
|
UTSW |
3 |
64,182,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Vmn2r3
|
UTSW |
3 |
64,183,039 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6822:Vmn2r3
|
UTSW |
3 |
64,194,876 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6826:Vmn2r3
|
UTSW |
3 |
64,182,327 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Vmn2r3
|
UTSW |
3 |
64,166,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Vmn2r3
|
UTSW |
3 |
64,166,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7154:Vmn2r3
|
UTSW |
3 |
64,194,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7192:Vmn2r3
|
UTSW |
3 |
64,167,364 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7282:Vmn2r3
|
UTSW |
3 |
64,168,825 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7472:Vmn2r3
|
UTSW |
3 |
64,182,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7563:Vmn2r3
|
UTSW |
3 |
64,182,770 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7726:Vmn2r3
|
UTSW |
3 |
64,182,939 (GRCm39) |
nonsense |
probably null |
|
|
R7966:Vmn2r3
|
UTSW |
3 |
64,186,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8025:Vmn2r3
|
UTSW |
3 |
64,182,871 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8050:Vmn2r3
|
UTSW |
3 |
64,178,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8300:Vmn2r3
|
UTSW |
3 |
64,182,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8402:Vmn2r3
|
UTSW |
3 |
64,178,617 (GRCm39) |
splice site |
probably benign |
|
|
R8486:Vmn2r3
|
UTSW |
3 |
64,186,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Vmn2r3
|
UTSW |
3 |
64,182,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8885:Vmn2r3
|
UTSW |
3 |
64,182,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Vmn2r3
|
UTSW |
3 |
64,194,892 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8905:Vmn2r3
|
UTSW |
3 |
64,166,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8937:Vmn2r3
|
UTSW |
3 |
64,166,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r3
|
UTSW |
3 |
64,168,803 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9172:Vmn2r3
|
UTSW |
3 |
64,186,403 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9485:Vmn2r3
|
UTSW |
3 |
64,183,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Vmn2r3
|
UTSW |
3 |
64,178,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9618:Vmn2r3
|
UTSW |
3 |
64,178,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Vmn2r3
|
UTSW |
3 |
64,182,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Vmn2r3
|
UTSW |
3 |
64,178,669 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATCTGGCAGCTGACGAGC -3'
(R):5'- CCATGCTATTTATAGGCAAGCCATG -3'
Sequencing Primer
(F):5'- CTGACGAGCCATAAAGGTTGTAAC -3'
(R):5'- AAGCCATGCAACTGGTCCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation