Incidental Mutation 'R5697:Vmn2r56'
| ID |
450738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r56
|
| Ensembl Gene |
ENSMUSG00000090762 |
| Gene Name |
vomeronasal 2, receptor 56 |
| Synonyms |
EG629079 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12427787-12468785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12449917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 107
(D107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163852]
|
| AlphaFold |
A0A3B2WBA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163852
AA Change: D107G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129566
Gene: ENSMUSG00000090762
AA Change: D107G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
1.9e-55 |
PFAM |
|
Pfam:NCD3G
|
439 |
492 |
6.4e-20 |
PFAM |
|
Pfam:7tm_3
|
523 |
760 |
1.3e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,713,630 (GRCm39) |
F550S |
possibly damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,616 (GRCm39) |
W203R |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,823,090 (GRCm39) |
T326I |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,010,170 (GRCm39) |
L309P |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,231,063 (GRCm39) |
M1149V |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
T |
8: 125,315,810 (GRCm39) |
H39Y |
unknown |
Het |
| Ccn2 |
A |
G |
10: 24,473,354 (GRCm39) |
T298A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,311,237 (GRCm39) |
Q1425* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,859,971 (GRCm39) |
L610P |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,190 (GRCm39) |
T424S |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,204 (GRCm39) |
D35G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,323,395 (GRCm39) |
V599G |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,102,772 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,527,952 (GRCm39) |
L320F |
probably damaging |
Het |
| H2bc22 |
C |
T |
13: 21,971,961 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,954,152 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,968 (GRCm39) |
E29K |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,598,477 (GRCm39) |
I137V |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,903,070 (GRCm39) |
T316A |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,342,686 (GRCm39) |
A642S |
probably null |
Het |
| Mrgprb3 |
G |
T |
7: 48,292,673 (GRCm39) |
L293M |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,885,155 (GRCm39) |
E1138G |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,576,012 (GRCm39) |
F379L |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,220,884 (GRCm39) |
K373R |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,190 (GRCm39) |
F293S |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,502,152 (GRCm39) |
Y66H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,720 (GRCm39) |
R5061G |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,288,683 (GRCm39) |
|
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,270,792 (GRCm39) |
V558A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,045 (GRCm39) |
E480G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 179,239,247 (GRCm39) |
K111T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,350 (GRCm39) |
R597* |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,724,000 (GRCm39) |
V1043L |
probably benign |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,474 (GRCm39) |
L22R |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,470 (GRCm39) |
Y103H |
probably benign |
Het |
| Zfp39 |
G |
T |
11: 58,780,661 (GRCm39) |
H700Q |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,046 (GRCm39) |
E134D |
probably benign |
Het |
|
| Other mutations in Vmn2r56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Vmn2r56
|
APN |
7 |
12,449,426 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01060:Vmn2r56
|
APN |
7 |
12,447,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01433:Vmn2r56
|
APN |
7 |
12,449,541 (GRCm39) |
missense |
probably benign |
|
|
IGL01859:Vmn2r56
|
APN |
7 |
12,449,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Vmn2r56
|
APN |
7 |
12,449,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02208:Vmn2r56
|
APN |
7 |
12,449,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4445001:Vmn2r56
|
UTSW |
7 |
12,449,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0077:Vmn2r56
|
UTSW |
7 |
12,449,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0278:Vmn2r56
|
UTSW |
7 |
12,449,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0512:Vmn2r56
|
UTSW |
7 |
12,449,350 (GRCm39) |
missense |
probably benign |
|
|
R0658:Vmn2r56
|
UTSW |
7 |
12,444,235 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0789:Vmn2r56
|
UTSW |
7 |
12,466,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Vmn2r56
|
UTSW |
7 |
12,427,954 (GRCm39) |
missense |
probably benign |
|
|
R1731:Vmn2r56
|
UTSW |
7 |
12,466,972 (GRCm39) |
missense |
probably benign |
|
|
R1817:Vmn2r56
|
UTSW |
7 |
12,449,542 (GRCm39) |
missense |
probably benign |
|
|
R2047:Vmn2r56
|
UTSW |
7 |
12,466,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Vmn2r56
|
UTSW |
7 |
12,446,890 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Vmn2r56
|
UTSW |
7 |
12,428,146 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2449:Vmn2r56
|
UTSW |
7 |
12,428,082 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2877:Vmn2r56
|
UTSW |
7 |
12,444,954 (GRCm39) |
missense |
probably benign |
|
|
R2878:Vmn2r56
|
UTSW |
7 |
12,444,954 (GRCm39) |
missense |
probably benign |
|
|
R4910:Vmn2r56
|
UTSW |
7 |
12,449,462 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5072:Vmn2r56
|
UTSW |
7 |
12,427,983 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5340:Vmn2r56
|
UTSW |
7 |
12,449,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Vmn2r56
|
UTSW |
7 |
12,446,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6166:Vmn2r56
|
UTSW |
7 |
12,427,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Vmn2r56
|
UTSW |
7 |
12,428,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Vmn2r56
|
UTSW |
7 |
12,427,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6751:Vmn2r56
|
UTSW |
7 |
12,428,719 (GRCm39) |
missense |
probably benign |
|
|
R6978:Vmn2r56
|
UTSW |
7 |
12,449,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7090:Vmn2r56
|
UTSW |
7 |
12,449,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Vmn2r56
|
UTSW |
7 |
12,444,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Vmn2r56
|
UTSW |
7 |
12,449,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8222:Vmn2r56
|
UTSW |
7 |
12,444,960 (GRCm39) |
missense |
probably benign |
|
|
R8282:Vmn2r56
|
UTSW |
7 |
12,449,601 (GRCm39) |
nonsense |
probably null |
|
|
R8786:Vmn2r56
|
UTSW |
7 |
12,449,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Vmn2r56
|
UTSW |
7 |
12,428,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Vmn2r56
|
UTSW |
7 |
12,444,237 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
RF002:Vmn2r56
|
UTSW |
7 |
12,428,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATGCAAACCCCAGCTG -3'
(R):5'- GGTAGAACCAGTACCATTCCAAAAG -3'
Sequencing Primer
(F):5'- CTGGGGTTAGCACCTGACTG -3'
(R):5'- CAGATTTCCTGGAGCTAGAGTTACAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation