Incidental Mutation 'R8047:Vmn2r89'
ID |
618831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r89
|
Ensembl Gene |
ENSMUSG00000070448 |
Gene Name |
vomeronasal 2, receptor 89 |
Synonyms |
V2r10, V2r11 |
MMRRC Submission |
067484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R8047 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51692549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 117
(D117E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159611]
[ENSMUST00000159734]
[ENSMUST00000161670]
[ENSMUST00000162998]
|
AlphaFold |
O35199 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159611
AA Change: D117E
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124065 Gene: ENSMUSG00000070448 AA Change: D117E
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 benign
Transcript: ENSMUST00000159734
AA Change: D117E
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124256 Gene: ENSMUSG00000070448 AA Change: D117E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
G |
A |
8: 80,427,817 (GRCm39) |
T157I |
possibly damaging |
Het |
Cd200l2 |
T |
C |
16: 45,340,829 (GRCm39) |
I245V |
probably benign |
Het |
Cdh22 |
G |
A |
2: 165,012,687 (GRCm39) |
R133W |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,406,247 (GRCm39) |
N1428K |
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,650,496 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
G |
T |
6: 87,088,454 (GRCm39) |
V206F |
unknown |
Het |
Dnaaf9 |
A |
T |
2: 130,617,019 (GRCm39) |
V439E |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,870,208 (GRCm39) |
I625M |
possibly damaging |
Het |
Dpy19l4 |
A |
G |
4: 11,317,139 (GRCm39) |
S20P |
probably benign |
Het |
Eef1e1 |
T |
C |
13: 38,830,222 (GRCm39) |
Q150R |
probably damaging |
Het |
Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
Engase |
T |
C |
11: 118,377,282 (GRCm39) |
S526P |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,790,231 (GRCm39) |
D293V |
probably damaging |
Het |
Gipc3 |
T |
A |
10: 81,177,132 (GRCm39) |
N146I |
probably damaging |
Het |
Gm11569 |
T |
C |
11: 99,689,616 (GRCm39) |
T28A |
unknown |
Het |
Gm43302 |
T |
C |
5: 105,422,623 (GRCm39) |
I470V |
possibly damaging |
Het |
Gpihbp1 |
A |
G |
15: 75,469,627 (GRCm39) |
Q114R |
possibly damaging |
Het |
Grhl2 |
T |
A |
15: 37,336,465 (GRCm39) |
M454K |
probably benign |
Het |
Gsap |
A |
T |
5: 21,462,866 (GRCm39) |
|
probably null |
Het |
Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
Kif1b |
C |
A |
4: 149,299,379 (GRCm39) |
V1010L |
probably damaging |
Het |
Krt8 |
A |
T |
15: 101,912,406 (GRCm39) |
I90N |
probably damaging |
Het |
Lrrc69 |
A |
T |
4: 14,773,726 (GRCm39) |
I110N |
probably benign |
Het |
Lta |
T |
C |
17: 35,423,011 (GRCm39) |
Y104C |
probably damaging |
Het |
Madd |
A |
G |
2: 91,009,546 (GRCm39) |
Y13H |
probably damaging |
Het |
Mccc2 |
C |
T |
13: 100,091,181 (GRCm39) |
V439I |
probably benign |
Het |
Mecom |
T |
A |
3: 30,292,404 (GRCm39) |
D35V |
|
Het |
Msra |
C |
T |
14: 64,522,612 (GRCm39) |
A76T |
probably damaging |
Het |
Myo18b |
G |
T |
5: 112,871,681 (GRCm39) |
D2133E |
possibly damaging |
Het |
Ncapd2 |
C |
T |
6: 125,166,762 (GRCm39) |
V31M |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,346,374 (GRCm39) |
V274A |
probably benign |
Het |
Or5m11b |
T |
C |
2: 85,806,271 (GRCm39) |
I228T |
possibly damaging |
Het |
Patz1 |
C |
T |
11: 3,256,283 (GRCm39) |
P523L |
probably benign |
Het |
Pbx2 |
T |
C |
17: 34,814,262 (GRCm39) |
S350P |
probably benign |
Het |
Plk4 |
T |
C |
3: 40,760,187 (GRCm39) |
I361T |
probably benign |
Het |
Ppat |
G |
T |
5: 77,073,557 (GRCm39) |
N122K |
probably damaging |
Het |
Prss23 |
T |
A |
7: 89,159,136 (GRCm39) |
Q311L |
probably damaging |
Het |
Psg26 |
G |
T |
7: 18,212,474 (GRCm39) |
Q294K |
possibly damaging |
Het |
Rab3il1 |
G |
T |
19: 10,011,166 (GRCm39) |
R285L |
probably benign |
Het |
Radil |
A |
G |
5: 142,480,695 (GRCm39) |
C587R |
probably damaging |
Het |
Rd3 |
A |
T |
1: 191,709,620 (GRCm39) |
|
probably benign |
Het |
Reck |
T |
C |
4: 43,927,221 (GRCm39) |
L504P |
probably damaging |
Het |
Rmc1 |
C |
T |
18: 12,313,586 (GRCm39) |
T233M |
possibly damaging |
Het |
Selenov |
A |
C |
7: 27,990,108 (GRCm39) |
L132R |
probably benign |
Het |
Spag16 |
A |
T |
1: 69,882,155 (GRCm39) |
D49V |
probably damaging |
Het |
Ston2 |
C |
T |
12: 91,608,617 (GRCm39) |
V828I |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,694,672 (GRCm39) |
S262P |
probably benign |
Het |
Tlnrd1 |
A |
T |
7: 83,532,069 (GRCm39) |
S121T |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,719,636 (GRCm39) |
K1011* |
probably null |
Het |
Zbtb7c |
A |
C |
18: 76,270,221 (GRCm39) |
N103T |
probably damaging |
Het |
Zfp764 |
T |
C |
7: 127,005,412 (GRCm39) |
E75G |
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 |
R3410:Vmn2r89
|
UTSW |
14 |
51,693,628 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- AATCTAGTTCAAGGATGGCATTGAG -3'
(R):5'- GTTGTTAACCCATTCAGTGTCAC -3'
Sequencing Primer
(F):5'- TTCAAGGATGGCATTGAGATAAAAC -3'
(R):5'- AGTGTCACATGTTCTTACCATTGG -3'
|
Posted On |
2020-01-23 |