Incidental Mutation 'R0023:Vmn2r3'
| ID |
64817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r3
|
| Ensembl Gene |
ENSMUSG00000091572 |
| Gene Name |
vomeronasal 2, receptor 3 |
| Synonyms |
EG637004 |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
96 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64166225-64197130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64182787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 304
(N304I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170244]
[ENSMUST00000176328]
|
| AlphaFold |
H3BJ88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170244
AA Change: N276I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126165
Gene: ENSMUSG00000091572
AA Change: N276I
| 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 |
probably damaging
Transcript: ENSMUST00000176328
AA Change: N304I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134891
Gene: ENSMUSG00000091572
AA Change: N304I
| 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 |
0.9620 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Ang4 |
G |
T |
14: 52,001,860 (GRCm39) |
Y29* |
probably null |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Bpifa3 |
A |
C |
2: 153,980,070 (GRCm39) |
H234P |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,185 (GRCm39) |
D413G |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Crip3 |
A |
G |
17: 46,741,920 (GRCm39) |
K136E |
probably damaging |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,726 (GRCm39) |
S367P |
probably damaging |
Het |
| Dhrs11 |
A |
T |
11: 84,713,976 (GRCm39) |
L125H |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,758,834 (GRCm39) |
|
probably benign |
Het |
| Eif2ak4 |
A |
C |
2: 118,293,202 (GRCm39) |
S1253R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,079 (GRCm39) |
T449A |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,374,563 (GRCm39) |
S2358P |
possibly damaging |
Het |
| Gas6 |
A |
C |
8: 13,520,344 (GRCm39) |
L448R |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,412 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,485,197 (GRCm39) |
R399* |
probably null |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Knl1 |
C |
T |
2: 118,933,030 (GRCm39) |
T2063I |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,527,697 (GRCm39) |
V9A |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,412 (GRCm39) |
R693W |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
T |
C |
1: 171,044,900 (GRCm39) |
F247L |
probably damaging |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Rpl21-ps6 |
T |
C |
17: 56,222,536 (GRCm39) |
|
noncoding transcript |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
T |
A |
2: 126,755,213 (GRCm39) |
|
probably null |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,932,498 (GRCm39) |
T1075S |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,209,912 (GRCm39) |
C169* |
probably null |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Ulk3 |
C |
A |
9: 57,497,639 (GRCm39) |
C4* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,997 (GRCm39) |
T272S |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,565,252 (GRCm39) |
E380K |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
| Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
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 |
|
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 |
|
R8678:Vmn2r3
|
UTSW |
3 |
64,166,896 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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'- GCTTCTCCTTTCCAGTGCAGAGATG -3'
(R):5'- TCAGGTGGGATATGCTTCCTCCTC -3'
Sequencing Primer
(F):5'- TTCCAGTGCAGAGATGATCTGAC -3'
(R):5'- GTTTATCGCACAATACCCAGTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation