Incidental Mutation 'RF006:Vmn2r24'
ID |
602818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r24
|
Ensembl Gene |
ENSMUSG00000072780 |
Gene Name |
vomeronasal 2, receptor 24 |
Synonyms |
EG243628 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
RF006 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
123755930-123793239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123783378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 526
(C526Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075095]
|
AlphaFold |
D3YUI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075095
AA Change: C526Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074602 Gene: ENSMUSG00000072780 AA Change: C526Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
82 |
469 |
1.6e-32 |
PFAM |
Pfam:NCD3G
|
518 |
571 |
1.1e-22 |
PFAM |
Pfam:7tm_3
|
602 |
839 |
1.1e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd7 |
GTT |
GT |
2: 3,341,736 (GRCm39) |
|
probably null |
Het |
Acp7 |
A |
T |
7: 28,314,204 (GRCm39) |
N330K |
possibly damaging |
Het |
Adam25 |
A |
T |
8: 41,208,834 (GRCm39) |
H700L |
probably benign |
Het |
Alg9 |
GGGTGG |
GGGTGGTGG |
9: 50,686,717 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,362,070 (GRCm39) |
V689E |
probably benign |
Het |
Atxn2l |
A |
G |
7: 126,095,063 (GRCm39) |
V533A |
probably benign |
Het |
Catsperb |
G |
A |
12: 101,542,238 (GRCm39) |
|
probably null |
Het |
Ccdc121 |
C |
T |
5: 31,644,894 (GRCm39) |
Q216* |
probably null |
Het |
Ccdc13 |
T |
C |
9: 121,643,273 (GRCm39) |
K376R |
probably damaging |
Het |
Ccdc170 |
C |
CCAA |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
G |
C |
15: 16,855,916 (GRCm39) |
R652P |
probably damaging |
Het |
Cenpf |
A |
C |
1: 189,389,583 (GRCm39) |
C1416W |
probably damaging |
Het |
Chga |
GCA |
GCATCA |
12: 102,527,671 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
TGTGACAGACACACTGCCCAGGGAAG |
TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG |
9: 86,922,478 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGAGAGACACGCTGGCCAGGGA |
9: 86,922,494 (GRCm39) |
|
probably benign |
Het |
Dennd3 |
T |
C |
15: 73,419,441 (GRCm39) |
I744T |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,029,832 (GRCm39) |
R491Q |
probably benign |
Het |
Eif4a2 |
A |
T |
16: 22,929,028 (GRCm39) |
M188L |
possibly damaging |
Het |
Esf1 |
CTCCTCTTC |
CTC |
2: 140,006,294 (GRCm39) |
|
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,913 (GRCm39) |
I2030V |
probably benign |
Het |
Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
Gins4 |
A |
T |
8: 23,717,183 (GRCm39) |
V195E |
possibly damaging |
Het |
Gm17402 |
TCCTCCTCC |
TCCTCCTCCCCCTCCTCC |
3: 67,272,892 (GRCm39) |
|
probably benign |
Het |
Gm17604 |
CTCTCTTTC |
CTC |
X: 163,786,814 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,128 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
T |
A |
14: 45,620,900 (GRCm39) |
|
probably null |
Het |
Inpp4a |
A |
C |
1: 37,427,908 (GRCm39) |
N651T |
possibly damaging |
Het |
Ireb2 |
T |
C |
9: 54,788,768 (GRCm39) |
F81L |
possibly damaging |
Het |
Kcnh3 |
T |
A |
15: 99,137,809 (GRCm39) |
|
probably null |
Het |
Kmt2b |
CTCCTC |
CTCCTCATCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
TG |
TGCTGTGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
Myt1 |
T |
C |
2: 181,439,566 (GRCm39) |
S405P |
probably damaging |
Het |
Net1 |
T |
C |
13: 3,937,406 (GRCm39) |
T245A |
probably benign |
Het |
Nkx2-1 |
T |
C |
12: 56,580,332 (GRCm39) |
T203A |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,912,165 (GRCm39) |
E75G |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,242,110 (GRCm39) |
D1491E |
probably benign |
Het |
Pkhd1l1 |
C |
A |
15: 44,366,634 (GRCm39) |
T704K |
probably benign |
Het |
Pkhd1l1 |
TT |
TTTTTTTTTGT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
A |
T |
9: 92,234,702 (GRCm39) |
I146F |
possibly damaging |
Het |
Ppp1r8 |
TCTCTCAC |
TC |
4: 132,557,928 (GRCm39) |
|
probably benign |
Het |
Ppp2r3c |
T |
A |
12: 55,340,600 (GRCm39) |
I157F |
probably benign |
Het |
Pramel34 |
A |
T |
5: 93,784,562 (GRCm39) |
C301S |
probably benign |
Het |
Rspo4 |
C |
T |
2: 151,709,797 (GRCm39) |
|
probably null |
Het |
Rtn4 |
T |
C |
11: 29,656,919 (GRCm39) |
S358P |
possibly damaging |
Het |
Siglecg |
T |
A |
7: 43,058,288 (GRCm39) |
Y58* |
probably null |
Het |
Slc4a1 |
C |
T |
11: 102,247,542 (GRCm39) |
|
probably null |
Het |
Slc9b1 |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
3: 135,063,303 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,442,276 (GRCm39) |
D64E |
probably benign |
Het |
Spaca1 |
CTCGC |
CTCGCTATCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
Srrm2 |
A |
G |
17: 24,031,562 (GRCm39) |
S236G |
unknown |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Strn |
TGCTCCCTTACCCCAGTC |
TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC |
17: 78,984,700 (GRCm39) |
|
probably null |
Het |
Tfeb |
CAG |
CAGGAG |
17: 48,097,038 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
A |
T |
8: 66,965,504 (GRCm39) |
E354V |
probably benign |
Het |
Tpte |
A |
G |
8: 22,796,959 (GRCm39) |
T94A |
probably benign |
Het |
Usp40 |
A |
C |
1: 87,894,917 (GRCm39) |
S868A |
possibly damaging |
Het |
Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Vmn2r24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00954:Vmn2r24
|
APN |
6 |
123,792,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01382:Vmn2r24
|
APN |
6 |
123,763,938 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01592:Vmn2r24
|
APN |
6 |
123,764,445 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01754:Vmn2r24
|
APN |
6 |
123,781,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01939:Vmn2r24
|
APN |
6 |
123,764,404 (GRCm39) |
missense |
probably benign |
|
IGL02140:Vmn2r24
|
APN |
6 |
123,757,631 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02272:Vmn2r24
|
APN |
6 |
123,763,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02568:Vmn2r24
|
APN |
6 |
123,792,812 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02748:Vmn2r24
|
APN |
6 |
123,793,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03022:Vmn2r24
|
APN |
6 |
123,755,967 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03343:Vmn2r24
|
APN |
6 |
123,793,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R0357:Vmn2r24
|
UTSW |
6 |
123,792,369 (GRCm39) |
frame shift |
probably null |
|
R0453:Vmn2r24
|
UTSW |
6 |
123,757,350 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0538:Vmn2r24
|
UTSW |
6 |
123,793,012 (GRCm39) |
missense |
probably benign |
0.32 |
R0607:Vmn2r24
|
UTSW |
6 |
123,763,893 (GRCm39) |
missense |
probably benign |
|
R1381:Vmn2r24
|
UTSW |
6 |
123,763,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Vmn2r24
|
UTSW |
6 |
123,783,479 (GRCm39) |
splice site |
probably benign |
|
R1848:Vmn2r24
|
UTSW |
6 |
123,793,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R2035:Vmn2r24
|
UTSW |
6 |
123,793,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R2077:Vmn2r24
|
UTSW |
6 |
123,792,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Vmn2r24
|
UTSW |
6 |
123,792,353 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2145:Vmn2r24
|
UTSW |
6 |
123,755,972 (GRCm39) |
missense |
probably benign |
|
R2483:Vmn2r24
|
UTSW |
6 |
123,792,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R2512:Vmn2r24
|
UTSW |
6 |
123,763,985 (GRCm39) |
missense |
probably benign |
0.01 |
R3001:Vmn2r24
|
UTSW |
6 |
123,781,231 (GRCm39) |
missense |
probably benign |
0.00 |
R3002:Vmn2r24
|
UTSW |
6 |
123,781,231 (GRCm39) |
missense |
probably benign |
0.00 |
R3236:Vmn2r24
|
UTSW |
6 |
123,755,984 (GRCm39) |
nonsense |
probably null |
|
R3623:Vmn2r24
|
UTSW |
6 |
123,792,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R3624:Vmn2r24
|
UTSW |
6 |
123,792,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:Vmn2r24
|
UTSW |
6 |
123,764,412 (GRCm39) |
missense |
probably benign |
0.33 |
R4074:Vmn2r24
|
UTSW |
6 |
123,764,374 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4075:Vmn2r24
|
UTSW |
6 |
123,764,374 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4812:Vmn2r24
|
UTSW |
6 |
123,756,144 (GRCm39) |
missense |
probably benign |
0.00 |
R4825:Vmn2r24
|
UTSW |
6 |
123,792,739 (GRCm39) |
missense |
probably benign |
0.02 |
R5351:Vmn2r24
|
UTSW |
6 |
123,793,223 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5665:Vmn2r24
|
UTSW |
6 |
123,763,938 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5790:Vmn2r24
|
UTSW |
6 |
123,792,499 (GRCm39) |
missense |
probably benign |
|
R5808:Vmn2r24
|
UTSW |
6 |
123,792,597 (GRCm39) |
nonsense |
probably null |
|
R5879:Vmn2r24
|
UTSW |
6 |
123,764,226 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5923:Vmn2r24
|
UTSW |
6 |
123,792,751 (GRCm39) |
missense |
probably damaging |
0.96 |
R5969:Vmn2r24
|
UTSW |
6 |
123,755,981 (GRCm39) |
missense |
probably benign |
0.00 |
R6050:Vmn2r24
|
UTSW |
6 |
123,792,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R6171:Vmn2r24
|
UTSW |
6 |
123,764,205 (GRCm39) |
missense |
probably damaging |
0.98 |
R6174:Vmn2r24
|
UTSW |
6 |
123,793,236 (GRCm39) |
missense |
probably benign |
0.00 |
R6356:Vmn2r24
|
UTSW |
6 |
123,783,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6562:Vmn2r24
|
UTSW |
6 |
123,757,386 (GRCm39) |
missense |
probably benign |
0.01 |
R6563:Vmn2r24
|
UTSW |
6 |
123,781,137 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6584:Vmn2r24
|
UTSW |
6 |
123,792,764 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6630:Vmn2r24
|
UTSW |
6 |
123,763,981 (GRCm39) |
missense |
probably benign |
0.00 |
R6803:Vmn2r24
|
UTSW |
6 |
123,755,960 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6864:Vmn2r24
|
UTSW |
6 |
123,756,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7252:Vmn2r24
|
UTSW |
6 |
123,764,191 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7369:Vmn2r24
|
UTSW |
6 |
123,792,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R7646:Vmn2r24
|
UTSW |
6 |
123,793,169 (GRCm39) |
missense |
probably benign |
0.20 |
R7799:Vmn2r24
|
UTSW |
6 |
123,757,422 (GRCm39) |
missense |
probably benign |
0.00 |
R7803:Vmn2r24
|
UTSW |
6 |
123,757,438 (GRCm39) |
missense |
probably benign |
0.00 |
R7959:Vmn2r24
|
UTSW |
6 |
123,755,949 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8215:Vmn2r24
|
UTSW |
6 |
123,756,077 (GRCm39) |
missense |
probably benign |
0.10 |
R8796:Vmn2r24
|
UTSW |
6 |
123,757,500 (GRCm39) |
missense |
probably benign |
|
R9172:Vmn2r24
|
UTSW |
6 |
123,783,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R9300:Vmn2r24
|
UTSW |
6 |
123,793,030 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9369:Vmn2r24
|
UTSW |
6 |
123,792,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R9375:Vmn2r24
|
UTSW |
6 |
123,792,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9523:Vmn2r24
|
UTSW |
6 |
123,763,950 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9546:Vmn2r24
|
UTSW |
6 |
123,764,266 (GRCm39) |
missense |
probably damaging |
0.98 |
RF016:Vmn2r24
|
UTSW |
6 |
123,781,174 (GRCm39) |
missense |
probably benign |
0.04 |
X0023:Vmn2r24
|
UTSW |
6 |
123,764,359 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Vmn2r24
|
UTSW |
6 |
123,781,155 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Vmn2r24
|
UTSW |
6 |
123,763,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGACAGACACATTGGACTC -3'
(R):5'- TGTTGTGGTGCATCATATTCAC -3'
Sequencing Primer
(F):5'- TTGGACTCACACTTACGAAAGCATG -3'
(R):5'- GGTGCATCATATTCACATTCAGAACC -3'
|
Posted On |
2019-12-04 |