Incidental Mutation 'R2431:Or2ag19'
| ID |
250405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ag19
|
| Ensembl Gene |
ENSMUSG00000073901 |
| Gene Name |
olfactory receptor family 2 subfamily AG member 19 |
| Synonyms |
MOR283-7, Olfr703, GA_x6K02T2PBJ9-9222217-9223176 |
| MMRRC Submission |
040392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R2431 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
106443820-106444779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106444598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 260
(V260A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098142]
[ENSMUST00000216254]
|
| AlphaFold |
Q9EPF5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098142
AA Change: V260A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095746
Gene: ENSMUSG00000073901
AA Change: V260A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.8e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.4e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216254
AA Change: V260A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
T |
C |
11: 97,343,230 (GRCm39) |
V504A |
probably benign |
Het |
| Atr |
T |
G |
9: 95,744,945 (GRCm39) |
N87K |
probably benign |
Het |
| Auts2 |
A |
T |
5: 132,287,887 (GRCm39) |
L32* |
probably null |
Het |
| Bptf |
A |
G |
11: 106,938,066 (GRCm39) |
V2675A |
possibly damaging |
Het |
| Brdt |
C |
T |
5: 107,525,881 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,445,841 (GRCm39) |
K444E |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,501,280 (GRCm39) |
D96G |
probably damaging |
Het |
| Cpq |
C |
A |
15: 33,594,265 (GRCm39) |
Y425* |
probably null |
Het |
| Eri1 |
A |
G |
8: 35,943,632 (GRCm39) |
Y221H |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,249,264 (GRCm39) |
V837A |
unknown |
Het |
| Ica1 |
G |
A |
6: 8,658,265 (GRCm39) |
T284I |
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,285,158 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,019,101 (GRCm39) |
T1073A |
possibly damaging |
Het |
| Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,946 (GRCm39) |
L163S |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,970 (GRCm39) |
V277A |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,299 (GRCm39) |
N5S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,378,695 (GRCm39) |
H78R |
possibly damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,897,197 (GRCm39) |
N121D |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,271,389 (GRCm39) |
T3055A |
possibly damaging |
Het |
| Ppp5c |
C |
T |
7: 16,749,350 (GRCm39) |
V160M |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,347 (GRCm39) |
R1438* |
probably null |
Het |
| Ptpro |
G |
A |
6: 137,420,583 (GRCm39) |
W183* |
probably null |
Het |
| Pygm |
T |
C |
19: 6,443,815 (GRCm39) |
M592T |
probably damaging |
Het |
| Qdpr |
A |
G |
5: 45,602,072 (GRCm39) |
V68A |
probably damaging |
Het |
| Rfc5 |
A |
C |
5: 117,523,523 (GRCm39) |
S92A |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,831,715 (GRCm39) |
Q362R |
probably benign |
Het |
| Ror1 |
G |
A |
4: 100,298,352 (GRCm39) |
C575Y |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,246,464 (GRCm39) |
D216V |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,149,242 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
T |
11: 21,279,025 (GRCm39) |
V387D |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,211,062 (GRCm39) |
S747P |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,732,893 (GRCm39) |
I7F |
possibly damaging |
Het |
| Zfp507 |
C |
T |
7: 35,494,827 (GRCm39) |
R72H |
probably benign |
Het |
|
| Other mutations in Or2ag19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Or2ag19
|
APN |
7 |
106,444,574 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01321:Or2ag19
|
APN |
7 |
106,443,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Or2ag19
|
APN |
7 |
106,444,473 (GRCm39) |
nonsense |
probably null |
|
|
IGL03376:Or2ag19
|
APN |
7 |
106,444,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Or2ag19
|
UTSW |
7 |
106,444,596 (GRCm39) |
nonsense |
probably null |
|
|
R0662:Or2ag19
|
UTSW |
7 |
106,443,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1589:Or2ag19
|
UTSW |
7 |
106,444,403 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1869:Or2ag19
|
UTSW |
7 |
106,444,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4021:Or2ag19
|
UTSW |
7 |
106,444,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Or2ag19
|
UTSW |
7 |
106,443,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6352:Or2ag19
|
UTSW |
7 |
106,444,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Or2ag19
|
UTSW |
7 |
106,444,009 (GRCm39) |
nonsense |
probably null |
|
|
R7037:Or2ag19
|
UTSW |
7 |
106,444,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Or2ag19
|
UTSW |
7 |
106,444,199 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8510:Or2ag19
|
UTSW |
7 |
106,444,130 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8825:Or2ag19
|
UTSW |
7 |
106,444,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCATTGCTGAAGCTGG -3'
(R):5'- TACCTAGAAAGTGGGCTGGC -3'
Sequencing Primer
(F):5'- AGCTGGCCTGTGAAGATACATCC -3'
(R):5'- GGCTGGCCCCAACCATTTTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation