Incidental Mutation 'R2434:Vmn2r-ps158'
| ID |
250523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r-ps158
|
| Ensembl Gene |
ENSMUSG00000091528 |
| Gene Name |
vomeronasal 2, receptor, pseudogene 158 |
| Synonyms |
Vmn2r126, Gm9268 |
| MMRRC Submission |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42668222-42697530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42696881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 646
(Y646C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166914]
[ENSMUST00000173815]
|
| AlphaFold |
E9Q0M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166914
AA Change: Y646C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129068
Gene: ENSMUSG00000091528
AA Change: Y646C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
473 |
1.1e-41 |
PFAM |
|
Pfam:NCD3G
|
516 |
569 |
1.7e-23 |
PFAM |
|
Pfam:7tm_3
|
602 |
837 |
9.6e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173815
AA Change: Y639C
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134441
Gene: ENSMUSG00000091528
AA Change: Y639C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
467 |
5.3e-40 |
PFAM |
|
Pfam:NCD3G
|
509 |
562 |
4.6e-22 |
PFAM |
|
Pfam:7tm_3
|
594 |
831 |
1.1e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
|
| Other mutations in Vmn2r-ps158 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01676:Vmn2r-ps158
|
APN |
7 |
42,674,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01753:Vmn2r-ps158
|
APN |
7 |
42,674,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02338:Vmn2r-ps158
|
APN |
7 |
42,697,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Vmn2r-ps158
|
APN |
7 |
42,673,092 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Vmn2r-ps158
|
UTSW |
7 |
42,696,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0849:Vmn2r-ps158
|
UTSW |
7 |
42,674,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Vmn2r-ps158
|
UTSW |
7 |
42,672,639 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1617:Vmn2r-ps158
|
UTSW |
7 |
42,673,503 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1962:Vmn2r-ps158
|
UTSW |
7 |
42,696,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1999:Vmn2r-ps158
|
UTSW |
7 |
42,696,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Vmn2r-ps158
|
UTSW |
7 |
42,673,454 (GRCm39) |
missense |
probably benign |
|
|
R3760:Vmn2r-ps158
|
UTSW |
7 |
42,673,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4562:Vmn2r-ps158
|
UTSW |
7 |
42,672,986 (GRCm39) |
nonsense |
probably null |
|
|
R4890:Vmn2r-ps158
|
UTSW |
7 |
42,697,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Vmn2r-ps158
|
UTSW |
7 |
42,672,684 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5597:Vmn2r-ps158
|
UTSW |
7 |
42,674,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6589:Vmn2r-ps158
|
UTSW |
7 |
42,673,022 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6831:Vmn2r-ps158
|
UTSW |
7 |
42,673,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Vmn2r-ps158
|
UTSW |
7 |
42,673,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Vmn2r-ps158
|
UTSW |
7 |
42,673,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6944:Vmn2r-ps158
|
UTSW |
7 |
42,697,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7470:Vmn2r-ps158
|
UTSW |
7 |
42,697,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Vmn2r-ps158
|
UTSW |
7 |
42,697,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Vmn2r-ps158
|
UTSW |
7 |
42,672,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7677:Vmn2r-ps158
|
UTSW |
7 |
42,674,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Vmn2r-ps158
|
UTSW |
7 |
42,697,094 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8210:Vmn2r-ps158
|
UTSW |
7 |
42,673,462 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8379:Vmn2r-ps158
|
UTSW |
7 |
42,697,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Vmn2r-ps158
|
UTSW |
7 |
42,697,108 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8917:Vmn2r-ps158
|
UTSW |
7 |
42,697,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Vmn2r-ps158
|
UTSW |
7 |
42,673,965 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9375:Vmn2r-ps158
|
UTSW |
7 |
42,673,499 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9452:Vmn2r-ps158
|
UTSW |
7 |
42,697,257 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9647:Vmn2r-ps158
|
UTSW |
7 |
42,697,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGAAGAGCCCTTGGGGATG -3'
(R):5'- GAGAGGTAGCCAGCCATATTCC -3'
Sequencing Primer
(F):5'- GATGGGACTCACGATCACAGC -3'
(R):5'- AATAATGGAATTTGGGGCCCCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation