Incidental Mutation 'R9395:Vmn2r89'
| ID |
710803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r89
|
| Ensembl Gene |
ENSMUSG00000070448 |
| Gene Name |
vomeronasal 2, receptor 89 |
| Synonyms |
V2r10, V2r11 |
| MMRRC Submission |
068965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R9395 (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 51693783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 378
(W378R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159611]
[ENSMUST00000159734]
[ENSMUST00000161670]
[ENSMUST00000162998]
|
| AlphaFold |
O35199 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159611
AA Change: W378R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124065
Gene: ENSMUSG00000070448
AA Change: W378R
| 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: W378R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124256
Gene: ENSMUSG00000070448
AA Change: W378R
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
| Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
| Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
| Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
| Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
| Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
| Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
| Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
| Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
| Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
| Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
| Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
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 |
|
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 |
|
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'- ACTTTTGCACACCACAAAGTTG -3'
(R):5'- ACAGTTGTTCCTCTGGGTCC -3'
Sequencing Primer
(F):5'- TTTGCACACCACAAAGTTGAGATTCC -3'
(R):5'- ACCTGCTGACAAACAGT -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation