Incidental Mutation 'R6589:Vmn2r-ps158'
| ID |
524506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r-ps158
|
| Ensembl Gene |
ENSMUSG00000091528 |
| Gene Name |
vomeronasal 2, receptor, pseudogene 158 |
| Synonyms |
Vmn2r126, Gm9268 |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42668222-42697530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42673022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 142
(S142T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166914]
[ENSMUST00000173815]
|
| AlphaFold |
E9Q0M3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166914
AA Change: S149T
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129068
Gene: ENSMUSG00000091528
AA Change: S149T
| 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 |
possibly damaging
Transcript: ENSMUST00000173815
AA Change: S142T
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134441
Gene: ENSMUSG00000091528
AA Change: S142T
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
| Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,523,789 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
| Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
| Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,485,875 (GRCm39) |
I74V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
| Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
| Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
| Lpl |
G |
T |
8: 69,349,459 (GRCm39) |
M328I |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
| Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Myoc |
T |
A |
1: 162,476,188 (GRCm39) |
Y297* |
probably null |
Het |
| Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
| Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
| Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
| Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
| Zfp358 |
T |
A |
8: 3,545,907 (GRCm39) |
F163Y |
probably damaging |
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 |
|
|
R2434:Vmn2r-ps158
|
UTSW |
7 |
42,696,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CAACACAACTCTTGGATTTGAGC -3'
(R):5'- GGATCTGTCATCAAGTACCTTCATC -3'
Sequencing Primer
(F):5'- CTTCTGGAGTGTATGAAGACAGCTAC -3'
(R):5'- TCAAGTACCTTCATCATTTACTTTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation