Incidental Mutation 'R6572:Vmn2r89'
| ID |
526295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r89
|
| Ensembl Gene |
ENSMUSG00000070448 |
| Gene Name |
vomeronasal 2, receptor 89 |
| Synonyms |
V2r10, V2r11 |
| MMRRC Submission |
044696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R6572 (G1)
|
| Quality Score |
125.008 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 51693450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 267
(V267I)
|
| 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: V267I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124065
Gene: ENSMUSG00000070448
AA Change: V267I
| 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: V267I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124256
Gene: ENSMUSG00000070448
AA Change: V267I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
T |
15: 37,425,961 (GRCm39) |
Q34* |
probably null |
Het |
| Adamts3 |
T |
A |
5: 90,009,468 (GRCm39) |
H65L |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 72,998,826 (GRCm39) |
V257A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,985,340 (GRCm39) |
K2208R |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,147,613 (GRCm39) |
S860L |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,722,412 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
T |
C |
7: 30,226,635 (GRCm39) |
E524G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,566,343 (GRCm39) |
Q763* |
probably null |
Het |
| Atg2a |
T |
C |
19: 6,304,695 (GRCm39) |
L1184P |
probably damaging |
Het |
| Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
| Btbd17 |
A |
T |
11: 114,683,046 (GRCm39) |
L222Q |
probably damaging |
Het |
| Chst13 |
G |
T |
6: 90,286,588 (GRCm39) |
R125S |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracr2a |
T |
C |
6: 127,585,715 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
A |
7: 105,408,013 (GRCm39) |
T1940S |
possibly damaging |
Het |
| Ddit4l |
G |
T |
3: 137,332,111 (GRCm39) |
R159L |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,866,674 (GRCm39) |
Y679H |
probably damaging |
Het |
| Dyrk4 |
T |
G |
6: 126,874,201 (GRCm39) |
I130L |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ephb1 |
A |
G |
9: 101,944,097 (GRCm39) |
F312L |
probably benign |
Het |
| Fndc9 |
A |
T |
11: 46,128,708 (GRCm39) |
I76F |
probably damaging |
Het |
| Frk |
G |
A |
10: 34,459,963 (GRCm39) |
R186K |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,302,191 (GRCm39) |
G41C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,522,131 (GRCm39) |
H633Q |
probably benign |
Het |
| Gstt4 |
T |
A |
10: 75,650,954 (GRCm39) |
T223S |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,318,739 (GRCm39) |
E60K |
probably benign |
Het |
| Inpp5d |
C |
T |
1: 87,623,118 (GRCm39) |
P403S |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,629,159 (GRCm39) |
I189K |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,702,579 (GRCm39) |
H239L |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,887,312 (GRCm39) |
D344G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,168,859 (GRCm39) |
I1892T |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,174,564 (GRCm39) |
S396T |
probably benign |
Het |
| Or1e35 |
A |
G |
11: 73,797,629 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,391 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
T |
A |
15: 66,481,396 (GRCm39) |
V264D |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,230,190 (GRCm39) |
Y319C |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,824 (GRCm39) |
Y608H |
probably damaging |
Het |
| Ppard |
G |
T |
17: 28,516,093 (GRCm39) |
E106* |
probably null |
Het |
| Pramel11 |
C |
T |
4: 143,621,943 (GRCm39) |
V471I |
possibly damaging |
Het |
| Pramel16 |
A |
G |
4: 143,676,262 (GRCm39) |
S281P |
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,773 (GRCm39) |
T48A |
probably benign |
Het |
| Ralgps2 |
A |
T |
1: 156,651,620 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
T |
A |
16: 97,547,105 (GRCm39) |
R323* |
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,437,902 (GRCm39) |
E68D |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,063,706 (GRCm39) |
D2334G |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,643 (GRCm39) |
D497G |
possibly damaging |
Het |
| Smarca2 |
A |
T |
19: 26,656,573 (GRCm39) |
I850F |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,202,396 (GRCm39) |
Y270H |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,730,380 (GRCm39) |
|
probably null |
Het |
| Srms |
T |
C |
2: 180,854,450 (GRCm39) |
D39G |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,739,213 (GRCm39) |
I528N |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,505,134 (GRCm39) |
I691V |
probably benign |
Het |
| Urb1 |
A |
C |
16: 90,584,302 (GRCm39) |
V560G |
probably benign |
Het |
| Usp37 |
A |
G |
1: 74,534,941 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn1r60 |
G |
A |
7: 5,547,599 (GRCm39) |
S167F |
probably benign |
Het |
| Washc3 |
T |
A |
10: 88,049,568 (GRCm39) |
D63E |
probably benign |
Het |
| Wdr89 |
A |
G |
12: 75,680,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,455,313 (GRCm39) |
S504P |
possibly 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 |
|
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'- CCATGGCATGGTCTCCTTGATG -3'
(R):5'- CTCAACTTTGTGGTGTGCAAAAG -3'
Sequencing Primer
(F):5'- ACTTGGATAGGACTGGTCATCTCAG -3'
(R):5'- AACTTTGTGGTGTGCAAAAGTGATAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation