Incidental Mutation 'R5836:Or13a19'
| ID |
449594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13a19
|
| Ensembl Gene |
ENSMUSG00000061489 |
| Gene Name |
olfactory receptor family 13 subfamily A member 19 |
| Synonyms |
Olfr525, MOR251-2, GA_x6K02T2PBJ9-42472898-42473827 |
| MMRRC Submission |
043222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5836 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139902614-139903543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139902827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 72
(V72I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078103]
[ENSMUST00000214594]
|
| AlphaFold |
Q8VGL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078103
AA Change: V72I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077243
Gene: ENSMUSG00000061489
AA Change: V72I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.1e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
260 |
1.5e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214594
AA Change: V72I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215542
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
T |
17: 36,272,918 (GRCm39) |
A243D |
possibly damaging |
Het |
| Azin2 |
C |
T |
4: 128,842,670 (GRCm39) |
G128D |
probably damaging |
Het |
| Babam1 |
A |
G |
8: 71,855,687 (GRCm39) |
E260G |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,865,958 (GRCm39) |
S275T |
probably damaging |
Het |
| Cd8a |
T |
C |
6: 71,350,775 (GRCm39) |
V80A |
possibly damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,929,861 (GRCm39) |
F12S |
possibly damaging |
Het |
| Dennd2b |
A |
T |
7: 109,140,552 (GRCm39) |
S225T |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,383,738 (GRCm39) |
N2987H |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,918,763 (GRCm39) |
F78S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,918,659 (GRCm39) |
T885A |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,662,817 (GRCm39) |
V145A |
probably benign |
Het |
| Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,229,882 (GRCm39) |
S758G |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,423,617 (GRCm39) |
L538Q |
probably damaging |
Het |
| Ikzf2 |
A |
G |
1: 69,578,546 (GRCm39) |
I176T |
probably damaging |
Het |
| Lrp3 |
A |
G |
7: 34,902,747 (GRCm39) |
V533A |
probably damaging |
Het |
| Nkx2-5 |
A |
T |
17: 27,058,063 (GRCm39) |
V297E |
possibly damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,353 (GRCm39) |
L225P |
probably damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,918 (GRCm39) |
T15A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,324,435 (GRCm39) |
W97R |
possibly damaging |
Het |
| Plekha5 |
T |
C |
6: 140,372,250 (GRCm39) |
Y67H |
probably damaging |
Het |
| Plin5 |
A |
T |
17: 56,422,549 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Prickle1 |
T |
A |
15: 93,400,898 (GRCm39) |
K529* |
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,519,746 (GRCm39) |
T107I |
probably damaging |
Het |
| Ptpn12 |
C |
T |
5: 21,214,544 (GRCm39) |
W197* |
probably null |
Het |
| Rhobtb1 |
T |
C |
10: 69,105,819 (GRCm39) |
V128A |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,618,618 (GRCm39) |
T3866A |
probably damaging |
Het |
| Serpina3m |
T |
C |
12: 104,355,509 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,172,343 (GRCm39) |
V414A |
possibly damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,561,278 (GRCm39) |
M581T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,515,040 (GRCm39) |
Y596C |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,168,123 (GRCm39) |
L278P |
probably benign |
Het |
| Tecpr2 |
C |
T |
12: 110,897,945 (GRCm39) |
A399V |
possibly damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,016 (GRCm39) |
E246G |
probably damaging |
Het |
| Vmn1r224 |
A |
T |
17: 20,639,953 (GRCm39) |
I177L |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,842,000 (GRCm39) |
T860I |
probably benign |
Het |
|
| Other mutations in Or13a19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02143:Or13a19
|
APN |
7 |
139,903,505 (GRCm39) |
nonsense |
probably null |
|
|
IGL02450:Or13a19
|
APN |
7 |
139,903,140 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02927:Or13a19
|
APN |
7 |
139,902,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Or13a19
|
APN |
7 |
139,903,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Or13a19
|
APN |
7 |
139,903,019 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0268:Or13a19
|
UTSW |
7 |
139,903,068 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0612:Or13a19
|
UTSW |
7 |
139,903,101 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0751:Or13a19
|
UTSW |
7 |
139,903,238 (GRCm39) |
missense |
probably benign |
|
|
R0801:Or13a19
|
UTSW |
7 |
139,902,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Or13a19
|
UTSW |
7 |
139,903,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2220:Or13a19
|
UTSW |
7 |
139,903,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3748:Or13a19
|
UTSW |
7 |
139,903,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4660:Or13a19
|
UTSW |
7 |
139,903,325 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4683:Or13a19
|
UTSW |
7 |
139,902,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4887:Or13a19
|
UTSW |
7 |
139,903,014 (GRCm39) |
missense |
probably benign |
|
|
R4919:Or13a19
|
UTSW |
7 |
139,903,427 (GRCm39) |
nonsense |
probably null |
|
|
R5097:Or13a19
|
UTSW |
7 |
139,903,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Or13a19
|
UTSW |
7 |
139,902,759 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8242:Or13a19
|
UTSW |
7 |
139,902,696 (GRCm39) |
nonsense |
probably null |
|
|
R8390:Or13a19
|
UTSW |
7 |
139,903,027 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8739:Or13a19
|
UTSW |
7 |
139,902,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8813:Or13a19
|
UTSW |
7 |
139,902,793 (GRCm39) |
nonsense |
probably null |
|
|
R8876:Or13a19
|
UTSW |
7 |
139,902,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Or13a19
|
UTSW |
7 |
139,902,938 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9044:Or13a19
|
UTSW |
7 |
139,902,485 (GRCm39) |
splice site |
probably benign |
|
|
R9176:Or13a19
|
UTSW |
7 |
139,903,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Or13a19
|
UTSW |
7 |
139,903,236 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGACTCACTCTCAAATGG -3'
(R):5'- AGCATGCTGTAGTGCAGTGG -3'
Sequencing Primer
(F):5'- CACAACTGTGGTGGAGTTTGTCC -3'
(R):5'- CAGTGGGCGACAGATGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation