Incidental Mutation 'R7622:Vmn2r80'
| ID |
589205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
045717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79030097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 641
(F641Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165834
AA Change: F641Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: F641Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
1.5e-36 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
7.9e-22 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.2e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
G |
A |
5: 129,216,688 (GRCm39) |
D384N |
probably benign |
Het |
| Aqp8 |
T |
C |
7: 123,065,883 (GRCm39) |
F226S |
possibly damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,107,339 (GRCm39) |
Y207C |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,002,562 (GRCm39) |
C1502* |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,342,365 (GRCm39) |
E27G |
possibly damaging |
Het |
| Cdc42bpb |
T |
G |
12: 111,261,206 (GRCm39) |
E201A |
unknown |
Het |
| Cfap54 |
A |
C |
10: 92,792,806 (GRCm39) |
V1769G |
unknown |
Het |
| Dmxl2 |
C |
T |
9: 54,379,502 (GRCm39) |
G7S |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,101,742 (GRCm39) |
F1927L |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,497,688 (GRCm39) |
E942G |
probably damaging |
Het |
| Fam170a |
A |
G |
18: 50,415,969 (GRCm39) |
R324G |
probably benign |
Het |
| Gapdhs |
G |
A |
7: 30,438,756 (GRCm39) |
T9I |
unknown |
Het |
| Gm10320 |
T |
A |
13: 98,626,232 (GRCm39) |
R51* |
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,277,501 (GRCm39) |
T1776S |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,323,441 (GRCm39) |
M94K |
possibly damaging |
Het |
| Ighv2-5 |
G |
A |
12: 113,649,358 (GRCm39) |
Q32* |
probably null |
Het |
| Klc2 |
T |
C |
19: 5,161,660 (GRCm39) |
E310G |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,478,707 (GRCm39) |
M309T |
probably damaging |
Het |
| Lrp11 |
G |
A |
10: 7,465,936 (GRCm39) |
G41R |
unknown |
Het |
| Lrrc52 |
G |
T |
1: 167,293,664 (GRCm39) |
P207Q |
probably benign |
Het |
| Lrrc52 |
G |
T |
1: 167,293,665 (GRCm39) |
P207T |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,696,526 (GRCm39) |
D2438V |
probably damaging |
Het |
| Mycbp |
C |
T |
4: 123,799,094 (GRCm39) |
T28M |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,281,846 (GRCm39) |
V804A |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,238 (GRCm39) |
I332V |
unknown |
Het |
| Ncor1 |
G |
T |
11: 62,208,794 (GRCm39) |
Q1359K |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,884,889 (GRCm39) |
D349G |
probably benign |
Het |
| Or12e1 |
A |
T |
2: 87,022,594 (GRCm39) |
I188L |
probably benign |
Het |
| Or1j21 |
A |
G |
2: 36,683,943 (GRCm39) |
K232E |
probably benign |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or8k53 |
A |
G |
2: 86,178,006 (GRCm39) |
Y35H |
possibly damaging |
Het |
| Pate4 |
A |
G |
9: 35,519,595 (GRCm39) |
S32P |
possibly damaging |
Het |
| Pcdhb7 |
A |
C |
18: 37,475,514 (GRCm39) |
S217R |
probably benign |
Het |
| Pde1c |
G |
A |
6: 56,103,910 (GRCm39) |
R580C |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,111,841 (GRCm39) |
A1545S |
|
Het |
| Pign |
G |
T |
1: 105,575,842 (GRCm39) |
T266K |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,260,090 (GRCm39) |
I1134T |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,666,520 (GRCm39) |
V409I |
possibly damaging |
Het |
| Prr7 |
A |
G |
13: 55,620,609 (GRCm39) |
T206A |
probably benign |
Het |
| Rnf13 |
A |
T |
3: 57,727,955 (GRCm39) |
R212* |
probably null |
Het |
| Rwdd2b |
T |
C |
16: 87,231,500 (GRCm39) |
N218S |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,834 (GRCm39) |
D167G |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,547 (GRCm39) |
N56Y |
probably damaging |
Het |
| Sprr3 |
G |
T |
3: 92,364,592 (GRCm39) |
T84K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,766 (GRCm39) |
H1626Q |
possibly damaging |
Het |
| Tex2 |
C |
A |
11: 106,437,721 (GRCm39) |
D650Y |
unknown |
Het |
| Tmprss6 |
A |
G |
15: 78,330,926 (GRCm39) |
S436P |
probably benign |
Het |
| Uba2 |
A |
C |
7: 33,864,860 (GRCm39) |
F63L |
probably damaging |
Het |
| Ubxn2b |
C |
T |
4: 6,214,692 (GRCm39) |
S242L |
probably damaging |
Het |
| Vmn1r86 |
T |
G |
7: 12,836,685 (GRCm39) |
I64L |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,662 (GRCm39) |
V781E |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,800,231 (GRCm39) |
I1965K |
|
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wdr90 |
G |
T |
17: 26,073,083 (GRCm39) |
F837L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,834,468 (GRCm39) |
V704A |
possibly damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,033 (GRCm39) |
K268E |
probably damaging |
Het |
|
| Other mutations in Vmn2r80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Vmn2r80
|
APN |
10 |
79,030,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Vmn2r80
|
APN |
10 |
79,030,081 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01611:Vmn2r80
|
APN |
10 |
79,007,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Vmn2r80
|
APN |
10 |
79,007,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01877:Vmn2r80
|
APN |
10 |
79,007,334 (GRCm39) |
splice site |
probably null |
|
|
IGL02673:Vmn2r80
|
APN |
10 |
79,005,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02756:Vmn2r80
|
APN |
10 |
79,030,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Vmn2r80
|
APN |
10 |
79,007,439 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03382:Vmn2r80
|
APN |
10 |
79,005,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0129:Vmn2r80
|
UTSW |
10 |
79,005,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Vmn2r80
|
UTSW |
10 |
78,984,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0567:Vmn2r80
|
UTSW |
10 |
79,030,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1510:Vmn2r80
|
UTSW |
10 |
79,005,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1519:Vmn2r80
|
UTSW |
10 |
79,030,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Vmn2r80
|
UTSW |
10 |
79,030,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Vmn2r80
|
UTSW |
10 |
79,030,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Vmn2r80
|
UTSW |
10 |
79,030,223 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2116:Vmn2r80
|
UTSW |
10 |
79,030,558 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2237:Vmn2r80
|
UTSW |
10 |
79,004,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Vmn2r80
|
UTSW |
10 |
79,007,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Vmn2r80
|
UTSW |
10 |
78,984,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3408:Vmn2r80
|
UTSW |
10 |
79,004,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4502:Vmn2r80
|
UTSW |
10 |
78,984,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Vmn2r80
|
UTSW |
10 |
79,030,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4851:Vmn2r80
|
UTSW |
10 |
79,030,156 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4947:Vmn2r80
|
UTSW |
10 |
79,030,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Vmn2r80
|
UTSW |
10 |
79,030,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5217:Vmn2r80
|
UTSW |
10 |
79,004,980 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5226:Vmn2r80
|
UTSW |
10 |
79,029,874 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5512:Vmn2r80
|
UTSW |
10 |
79,004,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5618:Vmn2r80
|
UTSW |
10 |
78,984,755 (GRCm39) |
missense |
probably benign |
|
|
R5959:Vmn2r80
|
UTSW |
10 |
79,005,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Vmn2r80
|
UTSW |
10 |
78,984,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Vmn2r80
|
UTSW |
10 |
79,017,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Vmn2r80
|
UTSW |
10 |
79,030,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6508:Vmn2r80
|
UTSW |
10 |
79,030,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6843:Vmn2r80
|
UTSW |
10 |
79,005,502 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6894:Vmn2r80
|
UTSW |
10 |
79,005,438 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7048:Vmn2r80
|
UTSW |
10 |
79,030,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Vmn2r80
|
UTSW |
10 |
79,030,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Vmn2r80
|
UTSW |
10 |
79,005,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7559:Vmn2r80
|
UTSW |
10 |
79,030,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8003:Vmn2r80
|
UTSW |
10 |
78,984,711 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8207:Vmn2r80
|
UTSW |
10 |
79,030,150 (GRCm39) |
nonsense |
probably null |
|
|
R8330:Vmn2r80
|
UTSW |
10 |
79,007,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Vmn2r80
|
UTSW |
10 |
78,984,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Vmn2r80
|
UTSW |
10 |
78,984,710 (GRCm39) |
missense |
probably benign |
|
|
R8688:Vmn2r80
|
UTSW |
10 |
79,004,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Vmn2r80
|
UTSW |
10 |
79,017,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Vmn2r80
|
UTSW |
10 |
79,005,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9125:Vmn2r80
|
UTSW |
10 |
78,984,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9147:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9148:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9187:Vmn2r80
|
UTSW |
10 |
79,030,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9218:Vmn2r80
|
UTSW |
10 |
79,030,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9553:Vmn2r80
|
UTSW |
10 |
78,984,743 (GRCm39) |
missense |
probably benign |
|
|
R9612:Vmn2r80
|
UTSW |
10 |
79,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Vmn2r80
|
UTSW |
10 |
78,984,672 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9769:Vmn2r80
|
UTSW |
10 |
79,005,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,232 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAACTCATTATGCGAATGGAG -3'
(R):5'- GGACCTGTGATGTCAGCAAC -3'
Sequencing Primer
(F):5'- GCCTGAAGAAAAGAGTAACATTTCTG -3'
(R):5'- GTGATGTCAGCAACCATCTTATC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation