Incidental Mutation 'R3410:Vmn2r89'
ID |
258489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r89
|
Ensembl Gene |
ENSMUSG00000070448 |
Gene Name |
vomeronasal 2, receptor 89 |
Synonyms |
V2r10, V2r11 |
MMRRC Submission |
040628-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R3410 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51693628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 326
(E326V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159611]
[ENSMUST00000159734]
[ENSMUST00000161670]
[ENSMUST00000162998]
|
AlphaFold |
O35199 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159611
AA Change: E326V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124065 Gene: ENSMUSG00000070448 AA Change: E326V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
449 |
4.8e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159734
AA Change: E326V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124256 Gene: ENSMUSG00000070448 AA Change: E326V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
420 |
1.1e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161670
|
SMART Domains |
Protein: ENSMUSP00000124261 Gene: ENSMUSG00000070448
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
SMART Domains |
Protein: ENSMUSP00000125409 Gene: ENSMUSG00000068399
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
T |
C |
8: 120,342,708 (GRCm39) |
V418A |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,316,114 (GRCm39) |
F569S |
probably benign |
Het |
Alcam |
T |
C |
16: 52,130,261 (GRCm39) |
T30A |
probably null |
Het |
Arnt2 |
G |
A |
7: 83,924,655 (GRCm39) |
R391W |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,576,196 (GRCm39) |
V817A |
probably damaging |
Het |
Atp13a4 |
G |
T |
16: 29,232,567 (GRCm39) |
T923K |
probably damaging |
Het |
Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
Ccdc185 |
T |
G |
1: 182,576,313 (GRCm39) |
Q125H |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
Cct2 |
T |
C |
10: 116,897,968 (GRCm39) |
N73S |
probably benign |
Het |
Clock |
G |
A |
5: 76,377,401 (GRCm39) |
Q633* |
probably null |
Het |
Col6a2 |
T |
C |
10: 76,439,193 (GRCm39) |
I826V |
probably benign |
Het |
Cpsf1 |
G |
T |
15: 76,485,981 (GRCm39) |
Y396* |
probably null |
Het |
Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
Dxo |
A |
G |
17: 35,057,825 (GRCm39) |
N177D |
probably damaging |
Het |
Fbxw28 |
A |
T |
9: 109,167,472 (GRCm39) |
V95E |
possibly damaging |
Het |
Galnt6 |
T |
C |
15: 100,597,018 (GRCm39) |
N383D |
probably damaging |
Het |
Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
Gsdmc4 |
A |
G |
15: 63,763,895 (GRCm39) |
S401P |
probably benign |
Het |
Gspt1 |
A |
T |
16: 11,047,109 (GRCm39) |
D435E |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,381,378 (GRCm39) |
S266P |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,708,050 (GRCm39) |
D721G |
probably benign |
Het |
Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,215,197 (GRCm39) |
N196S |
unknown |
Het |
Lama3 |
G |
C |
18: 12,546,915 (GRCm39) |
|
probably null |
Het |
Mcm5 |
T |
C |
8: 75,848,272 (GRCm39) |
M507T |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,372,553 (GRCm39) |
R814G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,456 (GRCm39) |
E186G |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
Nudcd1 |
T |
C |
15: 44,284,207 (GRCm39) |
M60V |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Or5p63 |
G |
A |
7: 107,811,490 (GRCm39) |
P82L |
possibly damaging |
Het |
Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
Ovol2 |
A |
G |
2: 144,159,796 (GRCm39) |
S82P |
probably benign |
Het |
Ppl |
T |
C |
16: 4,925,381 (GRCm39) |
E86G |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
Scml4 |
A |
G |
10: 42,833,667 (GRCm39) |
Y327C |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
Sltm |
T |
G |
9: 70,493,240 (GRCm39) |
L728V |
probably damaging |
Het |
Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
Sycp1 |
T |
C |
3: 102,748,357 (GRCm39) |
K812E |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
Tmem67 |
A |
T |
4: 12,073,952 (GRCm39) |
M288K |
probably benign |
Het |
Toporsl |
T |
C |
4: 52,610,970 (GRCm39) |
S288P |
probably benign |
Het |
Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
probably benign |
Het |
Wdr81 |
A |
G |
11: 75,343,758 (GRCm39) |
I503T |
probably damaging |
Het |
|
Other mutations in Vmn2r89 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Vmn2r89
|
APN |
14 |
51,692,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Vmn2r89
|
APN |
14 |
51,694,950 (GRCm39) |
missense |
probably benign |
|
IGL00990:Vmn2r89
|
APN |
14 |
51,693,428 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01991:Vmn2r89
|
APN |
14 |
51,689,676 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03073:Vmn2r89
|
APN |
14 |
51,693,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03085:Vmn2r89
|
APN |
14 |
51,689,615 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03278:Vmn2r89
|
APN |
14 |
51,692,557 (GRCm39) |
missense |
probably damaging |
0.99 |
R0115:Vmn2r89
|
UTSW |
14 |
51,693,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Vmn2r89
|
UTSW |
14 |
51,693,160 (GRCm39) |
missense |
probably damaging |
0.98 |
R0391:Vmn2r89
|
UTSW |
14 |
51,693,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R0481:Vmn2r89
|
UTSW |
14 |
51,693,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Vmn2r89
|
UTSW |
14 |
51,695,048 (GRCm39) |
splice site |
probably null |
|
R1210:Vmn2r89
|
UTSW |
14 |
51,692,427 (GRCm39) |
missense |
probably benign |
0.01 |
R1332:Vmn2r89
|
UTSW |
14 |
51,692,559 (GRCm39) |
missense |
probably benign |
0.00 |
R1660:Vmn2r89
|
UTSW |
14 |
51,693,693 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1959:Vmn2r89
|
UTSW |
14 |
51,694,897 (GRCm39) |
missense |
probably benign |
0.22 |
R2876:Vmn2r89
|
UTSW |
14 |
51,692,541 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4026:Vmn2r89
|
UTSW |
14 |
51,689,500 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R4398:Vmn2r89
|
UTSW |
14 |
51,689,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Vmn2r89
|
UTSW |
14 |
51,694,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4714:Vmn2r89
|
UTSW |
14 |
51,689,688 (GRCm39) |
missense |
probably damaging |
0.97 |
R5162:Vmn2r89
|
UTSW |
14 |
51,693,620 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5294:Vmn2r89
|
UTSW |
14 |
51,692,570 (GRCm39) |
missense |
probably benign |
0.00 |
R5811:Vmn2r89
|
UTSW |
14 |
51,693,565 (GRCm39) |
missense |
probably benign |
0.12 |
R6087:Vmn2r89
|
UTSW |
14 |
51,695,033 (GRCm39) |
splice site |
probably null |
|
R6229:Vmn2r89
|
UTSW |
14 |
51,693,178 (GRCm39) |
missense |
probably benign |
0.05 |
R6246:Vmn2r89
|
UTSW |
14 |
51,693,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Vmn2r89
|
UTSW |
14 |
51,693,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Vmn2r89
|
UTSW |
14 |
51,693,739 (GRCm39) |
missense |
probably benign |
0.30 |
R7683:Vmn2r89
|
UTSW |
14 |
51,692,651 (GRCm39) |
missense |
probably benign |
|
R7974:Vmn2r89
|
UTSW |
14 |
51,693,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R8047:Vmn2r89
|
UTSW |
14 |
51,692,549 (GRCm39) |
missense |
probably benign |
0.05 |
R8093:Vmn2r89
|
UTSW |
14 |
51,693,699 (GRCm39) |
missense |
probably benign |
0.00 |
R8348:Vmn2r89
|
UTSW |
14 |
51,692,548 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8723:Vmn2r89
|
UTSW |
14 |
51,693,910 (GRCm39) |
missense |
probably benign |
|
R8737:Vmn2r89
|
UTSW |
14 |
51,693,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Vmn2r89
|
UTSW |
14 |
51,693,170 (GRCm39) |
missense |
probably benign |
|
R9183:Vmn2r89
|
UTSW |
14 |
51,692,501 (GRCm39) |
missense |
probably benign |
0.01 |
R9197:Vmn2r89
|
UTSW |
14 |
51,693,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9377:Vmn2r89
|
UTSW |
14 |
51,692,601 (GRCm39) |
missense |
probably benign |
0.02 |
R9395:Vmn2r89
|
UTSW |
14 |
51,693,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Vmn2r89
|
UTSW |
14 |
51,693,288 (GRCm39) |
missense |
probably damaging |
0.99 |
R9457:Vmn2r89
|
UTSW |
14 |
51,693,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R9678:Vmn2r89
|
UTSW |
14 |
51,693,511 (GRCm39) |
missense |
probably benign |
0.09 |
X0019:Vmn2r89
|
UTSW |
14 |
51,693,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGATATACATGACAAGGGCTAC -3'
(R):5'- GCAGTGCTGTCCATTCCAATG -3'
Sequencing Primer
(F):5'- ATGACATCTTCAGCAAAGGTTG -3'
(R):5'- GCTGTCCATTCCAATGTGTTG -3'
|
Posted On |
2015-01-23 |