Incidental Mutation 'R8400:Vmn2r22'
| ID |
647807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r22
|
| Ensembl Gene |
ENSMUSG00000095486 |
| Gene Name |
vomeronasal 2, receptor 22 |
| Synonyms |
EG546913 |
| MMRRC Submission |
067763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
123586717-123627594 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 123614486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 368
(L368*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170808]
|
| AlphaFold |
E9Q7S8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000170808
AA Change: L368*
|
| SMART Domains |
Protein: ENSMUSP00000132043
Gene: ENSMUSG00000095486
AA Change: L368*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
473 |
1.4e-32 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
2.2e-23 |
PFAM |
|
Pfam:7tm_3
|
601 |
838 |
1.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,243,925 (GRCm39) |
M1929I |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,218 (GRCm39) |
I2655T |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,764,268 (GRCm39) |
V887A |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,666,258 (GRCm39) |
E161G |
possibly damaging |
Het |
| Astn1 |
C |
T |
1: 158,484,670 (GRCm39) |
P919L |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,062,061 (GRCm39) |
D688V |
probably damaging |
Het |
| C4bp |
C |
A |
1: 130,564,484 (GRCm39) |
C400F |
probably damaging |
Het |
| Col6a6 |
A |
C |
9: 105,651,995 (GRCm39) |
D1005E |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,741,644 (GRCm39) |
S15P |
probably benign |
Het |
| Dgkb |
T |
C |
12: 38,652,837 (GRCm39) |
|
probably null |
Het |
| Disc1 |
T |
C |
8: 125,959,732 (GRCm39) |
V748A |
probably benign |
Het |
| Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,291,037 (GRCm39) |
Y2471C |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,643,814 (GRCm39) |
N243K |
probably benign |
Het |
| Fchsd2 |
A |
T |
7: 100,902,780 (GRCm39) |
Q386L |
possibly damaging |
Het |
| Gm904 |
C |
A |
13: 50,797,453 (GRCm39) |
P49Q |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,374 (GRCm39) |
R59C |
probably damaging |
Het |
| Ier5l |
A |
G |
2: 30,363,105 (GRCm39) |
Y307H |
possibly damaging |
Het |
| Kmt2e |
C |
A |
5: 23,702,090 (GRCm39) |
T906K |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,364,213 (GRCm39) |
T2508K |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,264,431 (GRCm39) |
M784L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,937 (GRCm39) |
C391* |
probably null |
Het |
| Nubp2 |
A |
C |
17: 25,103,439 (GRCm39) |
M146R |
probably damaging |
Het |
| Or10q3 |
T |
A |
19: 11,848,578 (GRCm39) |
M1L |
probably damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,221 (GRCm39) |
V274M |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,876 (GRCm39) |
S21C |
probably benign |
Het |
| Or2b2 |
G |
A |
13: 21,888,085 (GRCm39) |
V305M |
probably benign |
Het |
| Or4k45 |
A |
T |
2: 111,395,747 (GRCm39) |
L14H |
probably damaging |
Het |
| Or7e166 |
A |
T |
9: 19,624,389 (GRCm39) |
N89Y |
probably benign |
Het |
| Otud1 |
T |
C |
2: 19,663,189 (GRCm39) |
V106A |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,453 (GRCm39) |
Y755* |
probably null |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,477 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,941,353 (GRCm39) |
E648G |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,435,756 (GRCm39) |
T794A |
probably benign |
Het |
| Spc24 |
A |
T |
9: 21,669,026 (GRCm39) |
L87H |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Stra6l |
G |
A |
4: 45,864,905 (GRCm39) |
R77Q |
probably damaging |
Het |
| Tdrd1 |
G |
A |
19: 56,837,081 (GRCm39) |
V472M |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,823,961 (GRCm39) |
I948K |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,434 (GRCm39) |
V31A |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,489,305 (GRCm39) |
C301* |
probably null |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,308 (GRCm39) |
T236A |
probably benign |
Het |
| Vwa1 |
T |
C |
4: 155,857,225 (GRCm39) |
H191R |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,344,135 (GRCm39) |
V838E |
possibly damaging |
Het |
|
| Other mutations in Vmn2r22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Vmn2r22
|
APN |
6 |
123,615,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01764:Vmn2r22
|
APN |
6 |
123,627,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02037:Vmn2r22
|
APN |
6 |
123,626,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Vmn2r22
|
APN |
6 |
123,614,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Vmn2r22
|
APN |
6 |
123,615,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02440:Vmn2r22
|
APN |
6 |
123,614,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02663:Vmn2r22
|
APN |
6 |
123,626,117 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03101:Vmn2r22
|
APN |
6 |
123,614,295 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0266:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0348:Vmn2r22
|
UTSW |
6 |
123,614,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0780:Vmn2r22
|
UTSW |
6 |
123,614,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1074:Vmn2r22
|
UTSW |
6 |
123,626,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1456:Vmn2r22
|
UTSW |
6 |
123,614,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1719:Vmn2r22
|
UTSW |
6 |
123,614,802 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1989:Vmn2r22
|
UTSW |
6 |
123,614,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2928:Vmn2r22
|
UTSW |
6 |
123,614,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2939:Vmn2r22
|
UTSW |
6 |
123,614,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3727:Vmn2r22
|
UTSW |
6 |
123,627,584 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3782:Vmn2r22
|
UTSW |
6 |
123,627,591 (GRCm39) |
nonsense |
probably null |
|
|
R3873:Vmn2r22
|
UTSW |
6 |
123,614,339 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4344:Vmn2r22
|
UTSW |
6 |
123,614,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Vmn2r22
|
UTSW |
6 |
123,614,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4430:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4431:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4701:Vmn2r22
|
UTSW |
6 |
123,627,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5274:Vmn2r22
|
UTSW |
6 |
123,627,593 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R5668:Vmn2r22
|
UTSW |
6 |
123,614,873 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5776:Vmn2r22
|
UTSW |
6 |
123,614,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Vmn2r22
|
UTSW |
6 |
123,614,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Vmn2r22
|
UTSW |
6 |
123,614,559 (GRCm39) |
missense |
not run |
|
|
R8208:Vmn2r22
|
UTSW |
6 |
123,614,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Vmn2r22
|
UTSW |
6 |
123,615,000 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8814:Vmn2r22
|
UTSW |
6 |
123,614,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8850:Vmn2r22
|
UTSW |
6 |
123,614,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9613:Vmn2r22
|
UTSW |
6 |
123,615,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTCTATCCAGTGAGCC -3'
(R):5'- TCTGGATCACAACTTCTGATTGG -3'
Sequencing Primer
(F):5'- CTCCTTCCACTCTGAGGGACAG -3'
(R):5'- GGATCACAACTTCTGATTGGGATATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation