Incidental Mutation 'R8749:Vmn2r78'
ID |
663711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
068592-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R8749 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86603513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 564
(T564A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170835
AA Change: T564A
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: T564A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
464 |
5.9e-31 |
PFAM |
Pfam:NCD3G
|
507 |
559 |
8.1e-21 |
PFAM |
Pfam:7tm_3
|
592 |
827 |
1e-52 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
C |
T |
13: 4,320,155 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,664,725 (GRCm39) |
M888K |
unknown |
Het |
Arhgap23 |
T |
A |
11: 97,391,641 (GRCm39) |
V223E |
probably damaging |
Het |
Atm |
C |
T |
9: 53,410,497 (GRCm39) |
W1028* |
probably null |
Het |
Atp7b |
A |
G |
8: 22,518,334 (GRCm39) |
V168A |
probably damaging |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Caskin1 |
C |
T |
17: 24,723,774 (GRCm39) |
A854V |
probably benign |
Het |
Cdcp1 |
T |
C |
9: 123,019,027 (GRCm39) |
N84S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,027,009 (GRCm39) |
I475N |
probably damaging |
Het |
Ciz1 |
A |
T |
2: 32,255,848 (GRCm39) |
Y107F |
probably benign |
Het |
Creb3l4 |
T |
C |
3: 90,145,199 (GRCm39) |
N318D |
probably benign |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,088,937 (GRCm39) |
K2805N |
probably damaging |
Het |
Dusp15 |
T |
A |
2: 152,788,209 (GRCm39) |
I63F |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,035,063 (GRCm39) |
Q3462R |
probably benign |
Het |
Evpl |
A |
G |
11: 116,120,232 (GRCm39) |
C569R |
probably benign |
Het |
Fmnl3 |
A |
T |
15: 99,219,322 (GRCm39) |
M766K |
possibly damaging |
Het |
G6pc2 |
A |
G |
2: 69,057,140 (GRCm39) |
N262S |
probably damaging |
Het |
Galk1 |
A |
T |
11: 115,899,762 (GRCm39) |
L325Q |
probably damaging |
Het |
H3c3 |
T |
C |
13: 23,929,108 (GRCm39) |
I125V |
probably benign |
Het |
Hr |
G |
A |
14: 70,795,510 (GRCm39) |
G352R |
probably damaging |
Het |
Il12b |
A |
T |
11: 44,294,864 (GRCm39) |
M1L |
not run |
Het |
Lpar6 |
A |
T |
14: 73,476,950 (GRCm39) |
M304L |
probably benign |
Het |
Mpeg1 |
G |
A |
19: 12,439,291 (GRCm39) |
A250T |
probably benign |
Het |
Mtcl3 |
T |
C |
10: 29,072,721 (GRCm39) |
I671T |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,180,863 (GRCm39) |
K1221R |
probably benign |
Het |
Ogfrl1 |
T |
A |
1: 23,409,399 (GRCm39) |
I276F |
probably damaging |
Het |
Or4f62 |
A |
G |
2: 111,986,869 (GRCm39) |
D191G |
possibly damaging |
Het |
Or4k37 |
T |
C |
2: 111,158,817 (GRCm39) |
C18R |
possibly damaging |
Het |
Or4x12-ps1 |
T |
C |
2: 89,916,631 (GRCm39) |
Y58C |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,574,260 (GRCm39) |
N2S |
probably benign |
Het |
P3h3 |
G |
A |
6: 124,822,940 (GRCm39) |
R505C |
probably damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,612,392 (GRCm39) |
I451F |
possibly damaging |
Het |
Pet117 |
C |
A |
2: 144,215,122 (GRCm39) |
D36E |
probably benign |
Het |
Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,601,029 (GRCm39) |
A2897T |
possibly damaging |
Het |
Prkra |
A |
G |
2: 76,460,879 (GRCm39) |
L273P |
probably damaging |
Het |
Prr30 |
T |
A |
14: 101,436,365 (GRCm39) |
T66S |
probably benign |
Het |
Slc29a4 |
A |
G |
5: 142,700,819 (GRCm39) |
Y188C |
probably damaging |
Het |
Spink5 |
A |
T |
18: 44,122,425 (GRCm39) |
K297* |
probably null |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tmem100 |
G |
A |
11: 89,926,574 (GRCm39) |
A134T |
probably damaging |
Het |
Tmem132c |
A |
G |
5: 127,437,003 (GRCm39) |
D164G |
possibly damaging |
Het |
Tnfsf18 |
A |
G |
1: 161,331,047 (GRCm39) |
T66A |
possibly damaging |
Het |
Ubr4 |
C |
T |
4: 139,129,935 (GRCm39) |
T685I |
probably damaging |
Het |
Uck1 |
T |
C |
2: 32,146,524 (GRCm39) |
Y185C |
|
Het |
Umod |
T |
A |
7: 119,070,639 (GRCm39) |
I418F |
probably benign |
Het |
Upp1 |
A |
T |
11: 9,079,561 (GRCm39) |
S41C |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,428 (GRCm39) |
Y95F |
probably benign |
Het |
Vmn1r180 |
G |
T |
7: 23,652,415 (GRCm39) |
D193Y |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,195,319 (GRCm39) |
V669A |
probably damaging |
Het |
Vmn2r55 |
T |
A |
7: 12,385,796 (GRCm39) |
Y728F |
probably damaging |
Het |
Vps13d |
T |
A |
4: 144,865,183 (GRCm39) |
N2057I |
|
Het |
Wdfy3 |
C |
T |
5: 102,030,446 (GRCm39) |
R2354Q |
probably damaging |
Het |
Wdr77 |
T |
A |
3: 105,866,975 (GRCm39) |
C26S |
probably damaging |
Het |
Yif1b |
C |
T |
7: 28,946,690 (GRCm39) |
A267V |
probably benign |
Het |
Zfp316 |
A |
G |
5: 143,248,565 (GRCm39) |
V227A |
unknown |
Het |
Zfp600 |
T |
A |
4: 146,133,151 (GRCm39) |
H606Q |
unknown |
Het |
Zfp804a |
T |
C |
2: 82,087,919 (GRCm39) |
W583R |
probably benign |
Het |
Zfp961 |
T |
C |
8: 72,719,686 (GRCm39) |
W39R |
probably damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,156 (GRCm39) |
C385S |
probably damaging |
Het |
|
Other mutations in Vmn2r78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01302:Vmn2r78
|
APN |
7 |
86,564,569 (GRCm39) |
missense |
unknown |
|
IGL01473:Vmn2r78
|
APN |
7 |
86,569,520 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01767:Vmn2r78
|
APN |
7 |
86,603,643 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02322:Vmn2r78
|
APN |
7 |
86,570,687 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02537:Vmn2r78
|
APN |
7 |
86,603,496 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03297:Vmn2r78
|
APN |
7 |
86,569,969 (GRCm39) |
nonsense |
probably null |
|
ANU74:Vmn2r78
|
UTSW |
7 |
86,570,273 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0035:Vmn2r78
|
UTSW |
7 |
86,569,413 (GRCm39) |
missense |
probably benign |
0.22 |
R0081:Vmn2r78
|
UTSW |
7 |
86,572,235 (GRCm39) |
missense |
probably benign |
0.35 |
R0401:Vmn2r78
|
UTSW |
7 |
86,570,519 (GRCm39) |
missense |
probably benign |
0.04 |
R0751:Vmn2r78
|
UTSW |
7 |
86,603,588 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1341:Vmn2r78
|
UTSW |
7 |
86,571,477 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1386:Vmn2r78
|
UTSW |
7 |
86,564,615 (GRCm39) |
missense |
unknown |
|
R1526:Vmn2r78
|
UTSW |
7 |
86,571,465 (GRCm39) |
splice site |
probably null |
|
R1712:Vmn2r78
|
UTSW |
7 |
86,604,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Vmn2r78
|
UTSW |
7 |
86,569,997 (GRCm39) |
missense |
probably benign |
|
R1812:Vmn2r78
|
UTSW |
7 |
86,569,995 (GRCm39) |
missense |
probably benign |
0.38 |
R2011:Vmn2r78
|
UTSW |
7 |
86,604,287 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2144:Vmn2r78
|
UTSW |
7 |
86,603,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R2197:Vmn2r78
|
UTSW |
7 |
86,570,535 (GRCm39) |
missense |
probably damaging |
0.96 |
R2291:Vmn2r78
|
UTSW |
7 |
86,569,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Vmn2r78
|
UTSW |
7 |
86,569,953 (GRCm39) |
splice site |
probably benign |
|
R3023:Vmn2r78
|
UTSW |
7 |
86,604,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Vmn2r78
|
UTSW |
7 |
86,569,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4512:Vmn2r78
|
UTSW |
7 |
86,569,452 (GRCm39) |
missense |
probably benign |
0.00 |
R4515:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R4544:Vmn2r78
|
UTSW |
7 |
86,570,399 (GRCm39) |
missense |
probably benign |
|
R4546:Vmn2r78
|
UTSW |
7 |
86,603,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Vmn2r78
|
UTSW |
7 |
86,603,916 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4928:Vmn2r78
|
UTSW |
7 |
86,603,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Vmn2r78
|
UTSW |
7 |
86,571,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R5265:Vmn2r78
|
UTSW |
7 |
86,569,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Vmn2r78
|
UTSW |
7 |
86,570,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R5442:Vmn2r78
|
UTSW |
7 |
86,569,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5567:Vmn2r78
|
UTSW |
7 |
86,570,737 (GRCm39) |
missense |
probably benign |
0.17 |
R5572:Vmn2r78
|
UTSW |
7 |
86,564,720 (GRCm39) |
missense |
probably benign |
0.01 |
R5636:Vmn2r78
|
UTSW |
7 |
86,603,637 (GRCm39) |
missense |
probably damaging |
0.99 |
R5901:Vmn2r78
|
UTSW |
7 |
86,603,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Vmn2r78
|
UTSW |
7 |
86,604,115 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Vmn2r78
|
UTSW |
7 |
86,569,541 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6276:Vmn2r78
|
UTSW |
7 |
86,570,318 (GRCm39) |
missense |
probably benign |
0.00 |
R6386:Vmn2r78
|
UTSW |
7 |
86,571,545 (GRCm39) |
nonsense |
probably null |
|
R6724:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R6852:Vmn2r78
|
UTSW |
7 |
86,603,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6896:Vmn2r78
|
UTSW |
7 |
86,571,558 (GRCm39) |
missense |
probably benign |
0.10 |
R7385:Vmn2r78
|
UTSW |
7 |
86,571,633 (GRCm39) |
missense |
probably benign |
0.18 |
R7578:Vmn2r78
|
UTSW |
7 |
86,603,552 (GRCm39) |
nonsense |
probably null |
|
R7680:Vmn2r78
|
UTSW |
7 |
86,604,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Vmn2r78
|
UTSW |
7 |
86,570,343 (GRCm39) |
missense |
probably benign |
0.00 |
R7852:Vmn2r78
|
UTSW |
7 |
86,569,378 (GRCm39) |
nonsense |
probably null |
|
R8031:Vmn2r78
|
UTSW |
7 |
86,604,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Vmn2r78
|
UTSW |
7 |
86,571,695 (GRCm39) |
missense |
probably benign |
0.01 |
R8085:Vmn2r78
|
UTSW |
7 |
86,603,998 (GRCm39) |
missense |
probably benign |
0.00 |
R8163:Vmn2r78
|
UTSW |
7 |
86,603,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R8501:Vmn2r78
|
UTSW |
7 |
86,570,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R9209:Vmn2r78
|
UTSW |
7 |
86,569,431 (GRCm39) |
missense |
probably benign |
0.08 |
RF018:Vmn2r78
|
UTSW |
7 |
86,603,639 (GRCm39) |
nonsense |
probably null |
|
Z1177:Vmn2r78
|
UTSW |
7 |
86,603,982 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Vmn2r78
|
UTSW |
7 |
86,570,415 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGAGCATTGGAAATTAAGATCAC -3'
(R):5'- GGACATAGCTGAGAGTTTCATTATTG -3'
Sequencing Primer
(F):5'- GCATAGGTTTGGTATATCTTCT -3'
(R):5'- AGAGTTTCATTATTGGCCTTGAC -3'
|
Posted On |
2021-03-08 |