Incidental Mutation 'R1332:Vmn2r89'
| ID |
156754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r89
|
| Ensembl Gene |
ENSMUSG00000070448 |
| Gene Name |
vomeronasal 2, receptor 89 |
| Synonyms |
V2r10, V2r11 |
| MMRRC Submission |
039397-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R1332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51692559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 121
(T121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159611]
[ENSMUST00000159734]
[ENSMUST00000161670]
[ENSMUST00000162998]
|
| AlphaFold |
O35199 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159611
AA Change: T121A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124065
Gene: ENSMUSG00000070448
AA Change: T121A
| 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: T121A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124256
Gene: ENSMUSG00000070448
AA Change: T121A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
T |
TNNNNNNNNNNNNNNNNNN |
11: 43,478,256 (GRCm39) |
|
probably benign |
Het |
| Abhd14b |
A |
T |
9: 106,329,195 (GRCm39) |
I42F |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,750 (GRCm39) |
I498N |
possibly damaging |
Het |
| Asah2 |
A |
G |
19: 32,022,341 (GRCm39) |
I231T |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Caskin2 |
C |
T |
11: 115,694,171 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,844,784 (GRCm39) |
T1428A |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,569,912 (GRCm39) |
W477G |
possibly damaging |
Het |
| Cox16 |
T |
C |
12: 81,519,064 (GRCm39) |
D89G |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,934,041 (GRCm39) |
I3511T |
possibly damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,276,901 (GRCm39) |
Y333N |
probably damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,528 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,855,167 (GRCm39) |
D1892G |
probably benign |
Het |
| Hlf |
G |
T |
11: 90,231,679 (GRCm39) |
S265* |
probably null |
Het |
| Immt |
T |
C |
6: 71,823,256 (GRCm39) |
|
probably benign |
Het |
| Lair1 |
T |
C |
7: 4,013,595 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,904,314 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
C |
1: 170,177,001 (GRCm39) |
N134S |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,784,727 (GRCm39) |
C344R |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,116 (GRCm39) |
L99S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Pmfbp1 |
T |
G |
8: 110,256,898 (GRCm39) |
I534S |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,274,315 (GRCm39) |
D1329G |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,391 (GRCm39) |
T423A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,968,326 (GRCm39) |
W170R |
probably benign |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tlr3 |
A |
C |
8: 45,851,774 (GRCm39) |
N374K |
probably damaging |
Het |
| Uck1 |
T |
C |
2: 32,149,666 (GRCm39) |
D71G |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,841,174 (GRCm39) |
E497K |
probably damaging |
Het |
| Vmn2r86 |
G |
A |
10: 130,282,739 (GRCm39) |
L626F |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,622,706 (GRCm39) |
S828P |
possibly damaging |
Het |
| Zfp334 |
A |
T |
2: 165,222,776 (GRCm39) |
H422Q |
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 |
|
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 |
|
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'- TCGGGTGTTATCTAAGAAGGGCTGTT -3'
(R):5'- CCCATTCAGTGTCACATGTTCTTACCA -3'
Sequencing Primer
(F):5'- GAACTGTAATCTAGTTCAAGGATGGC -3'
(R):5'- CCATTGGTATTGAAGAATCCATTGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation