Incidental Mutation 'R4398:Vmn2r89'
| ID |
325601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r89
|
| Ensembl Gene |
ENSMUSG00000070448 |
| Gene Name |
vomeronasal 2, receptor 89 |
| Synonyms |
V2r10, V2r11 |
| MMRRC Submission |
041130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R4398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51689551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 18
(L18P)
|
| 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: L18P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124065
Gene: ENSMUSG00000070448
AA Change: L18P
| 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: L18P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124256
Gene: ENSMUSG00000070448
AA Change: L18P
| 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 damaging
Transcript: ENSMUST00000161670
AA Change: L18P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124261
Gene: ENSMUSG00000070448
AA Change: L18P
| 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: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,231,576 (GRCm39) |
R871L |
possibly damaging |
Het |
| Adcy5 |
G |
A |
16: 35,089,363 (GRCm39) |
C520Y |
probably damaging |
Het |
| AI661453 |
G |
A |
17: 47,779,042 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 107,001,670 (GRCm39) |
K481E |
probably damaging |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,913,697 (GRCm39) |
P200S |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,363,959 (GRCm39) |
Y210H |
probably damaging |
Het |
| Dbn1 |
T |
C |
13: 55,623,194 (GRCm39) |
T430A |
probably benign |
Het |
| Dmd |
A |
C |
X: 82,765,624 (GRCm39) |
T657P |
probably benign |
Het |
| Efnb2 |
C |
T |
8: 8,670,832 (GRCm39) |
R256H |
possibly damaging |
Het |
| Eif4a1 |
T |
C |
11: 69,560,070 (GRCm39) |
I116M |
possibly damaging |
Het |
| F730035P03Rik |
A |
T |
7: 99,429,475 (GRCm39) |
|
noncoding transcript |
Het |
| Fbn1 |
C |
T |
2: 125,239,701 (GRCm39) |
V329I |
probably benign |
Het |
| Gpr20 |
G |
A |
15: 73,568,125 (GRCm39) |
T88I |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,386,735 (GRCm39) |
V3783G |
probably benign |
Het |
| Khdc1a |
A |
G |
1: 21,420,617 (GRCm39) |
D79G |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,851 (GRCm39) |
I218F |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 16,155,594 (GRCm39) |
T2001I |
unknown |
Het |
| Mia3 |
A |
G |
1: 183,111,733 (GRCm39) |
S556P |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,467,854 (GRCm39) |
D369E |
probably benign |
Het |
| Nelfa |
T |
C |
5: 34,058,623 (GRCm39) |
D279G |
possibly damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,900,517 (GRCm39) |
C607* |
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,741 (GRCm39) |
V283A |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,825,380 (GRCm39) |
Q1371L |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,376,061 (GRCm39) |
V1358E |
probably benign |
Het |
| Pgr |
T |
C |
9: 8,903,750 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,809 (GRCm39) |
D464G |
probably damaging |
Het |
| Prickle4 |
A |
G |
17: 48,001,456 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,551,192 (GRCm39) |
Y309H |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,642 (GRCm39) |
Q464R |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 23,999,445 (GRCm39) |
I78K |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,962,205 (GRCm39) |
F217Y |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,527,234 (GRCm39) |
V360A |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,838,659 (GRCm39) |
|
probably benign |
Het |
| Tlr12 |
T |
A |
4: 128,509,988 (GRCm39) |
D754V |
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,155,857 (GRCm39) |
P43L |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,027,630 (GRCm39) |
N873S |
probably benign |
Het |
| Tsn |
C |
T |
1: 118,238,799 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,882,289 (GRCm39) |
K250R |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,812 (GRCm39) |
V159D |
probably damaging |
Het |
| Vps8 |
T |
G |
16: 21,323,216 (GRCm39) |
N689K |
probably damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,963,513 (GRCm39) |
D30E |
possibly damaging |
Het |
| Ythdc1 |
G |
T |
5: 86,983,679 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,580,856 (GRCm39) |
Q86* |
probably null |
Het |
| Zfp521 |
C |
T |
18: 13,979,601 (GRCm39) |
E271K |
probably benign |
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 |
|
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'- CCCTATGTATCTAGGGAGCATGAC -3'
(R):5'- CTCACTAATGACATTGACACAGG -3'
Sequencing Primer
(F):5'- TATGTATCTAGGGAGCATGACATAGG -3'
(R):5'- CCCAAAGGTAAAAATGACATTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation