Incidental Mutation 'R7048:Vmn2r80'
| ID |
547449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
045146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79030153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 660
(Q660K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165834
AA Change: Q660K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: Q660K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,552,565 (GRCm39) |
D629G |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,749,954 (GRCm39) |
Q811L |
|
Het |
| Ank2 |
T |
A |
3: 126,819,267 (GRCm39) |
Q468L |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,513,116 (GRCm39) |
Y626* |
probably null |
Het |
| Ap1m1 |
A |
G |
8: 73,003,642 (GRCm39) |
N114S |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,051,121 (GRCm39) |
I525N |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,552,672 (GRCm39) |
I223T |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,308 (GRCm39) |
Y68H |
probably benign |
Het |
| Bbs5 |
T |
C |
2: 69,484,705 (GRCm39) |
I125T |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,841,431 (GRCm39) |
N159S |
probably damaging |
Het |
| Cd37 |
T |
C |
7: 44,887,888 (GRCm39) |
|
probably benign |
Het |
| Cdk14 |
T |
A |
5: 5,143,005 (GRCm39) |
Q242L |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,477 (GRCm39) |
V605A |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,119,469 (GRCm39) |
M309I |
probably benign |
Het |
| Cyp2r1 |
A |
T |
7: 114,151,971 (GRCm39) |
Y120N |
probably damaging |
Het |
| Ddx3y |
A |
T |
Y: 1,279,491 (GRCm39) |
S124R |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,972,472 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,936,944 (GRCm39) |
E3420G |
possibly damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,080,613 (GRCm39) |
|
probably null |
Het |
| Dusp23 |
A |
T |
1: 172,459,253 (GRCm39) |
Y136* |
probably null |
Het |
| Eif4b |
A |
G |
15: 102,001,571 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
A |
G |
13: 37,082,117 (GRCm39) |
V529A |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,162,808 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gm826 |
C |
T |
2: 160,169,026 (GRCm39) |
W94* |
probably null |
Het |
| Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,475,404 (GRCm39) |
|
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,551 (GRCm39) |
D355G |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,115,895 (GRCm39) |
V77A |
probably damaging |
Het |
| Kcmf1 |
C |
T |
6: 72,826,450 (GRCm39) |
R40K |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,145,982 (GRCm39) |
E315G |
probably damaging |
Het |
| Kmt2b |
C |
T |
7: 30,268,731 (GRCm39) |
G2666D |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,152 (GRCm39) |
N203S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,767,969 (GRCm39) |
N5301D |
probably benign |
Het |
| Mest |
T |
G |
6: 30,742,723 (GRCm39) |
H108Q |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,837,167 (GRCm39) |
I36T |
probably damaging |
Het |
| Moxd1 |
C |
A |
10: 24,157,374 (GRCm39) |
D335E |
probably damaging |
Het |
| Ncf2 |
A |
C |
1: 152,683,921 (GRCm39) |
N47H |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,337,822 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
A |
T |
17: 37,886,114 (GRCm39) |
S67T |
probably damaging |
Het |
| Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
| Phactr2 |
T |
A |
10: 13,121,168 (GRCm39) |
T444S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,747,559 (GRCm39) |
N710D |
probably benign |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Pramel15 |
T |
C |
4: 144,103,754 (GRCm39) |
D124G |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,961,622 (GRCm39) |
Y111F |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,865,277 (GRCm39) |
E722G |
possibly damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,028,190 (GRCm39) |
D538G |
probably benign |
Het |
| Rims1 |
A |
G |
1: 22,511,901 (GRCm39) |
S551P |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 67,088,164 (GRCm39) |
D166G |
probably damaging |
Het |
| Selenon |
T |
C |
4: 134,270,154 (GRCm39) |
N350S |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,295,802 (GRCm39) |
L168H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,682 (GRCm39) |
Y560H |
probably benign |
Het |
| Syce1 |
C |
T |
7: 140,359,281 (GRCm39) |
D147N |
possibly damaging |
Het |
| Syt10 |
A |
C |
15: 89,675,008 (GRCm39) |
V446G |
probably damaging |
Het |
| Taar1 |
T |
C |
10: 23,796,722 (GRCm39) |
L140P |
probably benign |
Het |
| Tfpi2 |
C |
A |
6: 3,968,032 (GRCm39) |
C36F |
probably damaging |
Het |
| Thoc5 |
G |
A |
11: 4,876,237 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,612,800 (GRCm39) |
N319K |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,085,418 (GRCm39) |
D189N |
probably damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,474 (GRCm39) |
F442Y |
probably damaging |
Het |
| Ubap2 |
G |
A |
4: 41,196,033 (GRCm39) |
T949I |
possibly damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,016,024 (GRCm39) |
F146L |
probably benign |
Het |
| Vstm2b |
C |
T |
7: 40,578,800 (GRCm39) |
T258I |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,544 (GRCm39) |
L259P |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,508,671 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,757,525 (GRCm39) |
Y1193* |
probably null |
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 |
|
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 |
|
R7622:Vmn2r80
|
UTSW |
10 |
79,030,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGGGAATCACACTTCTTTCCATTG -3'
(R):5'- GAGATGTTCCCAGCCATATACC -3'
Sequencing Primer
(F):5'- TTGGATTCTCAACACTCACAGC -3'
(R):5'- GATGTTCCCAGCCATATACCAGAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation