Incidental Mutation 'R8498:Or13p8'
| ID |
658362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13p8
|
| Ensembl Gene |
ENSMUSG00000070821 |
| Gene Name |
olfactory receptor family 13 subfamily P member 8 |
| Synonyms |
MOR258-6, Olfr1340, GA_x6K02T2QD9B-18823451-18822504 |
| MMRRC Submission |
067940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118582919-118584393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118583822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 126
(Y126F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094834]
[ENSMUST00000213436]
[ENSMUST00000216242]
[ENSMUST00000217334]
|
| AlphaFold |
Q3KPC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094834
AA Change: Y126F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092430
Gene: ENSMUSG00000070821
AA Change: Y126F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
310 |
4.4e-57 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213436
AA Change: Y126F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216242
AA Change: Y126F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217334
AA Change: Y126F
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
T |
1: 120,096,872 (GRCm39) |
|
probably null |
Het |
| Amigo1 |
A |
G |
3: 108,095,751 (GRCm39) |
M417V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,823,306 (GRCm39) |
Q1701K |
probably benign |
Het |
| Cfhr2 |
G |
T |
1: 139,741,219 (GRCm39) |
T252K |
possibly damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,602,211 (GRCm39) |
V1205E |
possibly damaging |
Het |
| Ctsb |
T |
C |
14: 63,370,881 (GRCm39) |
I31T |
probably benign |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,809,094 (GRCm39) |
D1062G |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,657,139 (GRCm39) |
M879R |
probably benign |
Het |
| Gcc1 |
C |
A |
6: 28,418,029 (GRCm39) |
S768I |
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,128,218 (GRCm39) |
Y637H |
probably damaging |
Het |
| Gm4787 |
T |
C |
12: 81,425,840 (GRCm39) |
D106G |
probably damaging |
Het |
| Gm527 |
T |
A |
12: 64,967,782 (GRCm39) |
V68D |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,955,605 (GRCm39) |
Y226* |
probably null |
Het |
| Hkdc1 |
T |
C |
10: 62,221,662 (GRCm39) |
R799G |
probably benign |
Het |
| Ier2 |
T |
C |
8: 85,389,353 (GRCm39) |
I10V |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,470,069 (GRCm39) |
N219S |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,625 (GRCm39) |
I606T |
probably benign |
Het |
| Krt88 |
A |
G |
15: 101,351,406 (GRCm39) |
S138G |
probably benign |
Het |
| Lrrc3 |
T |
C |
10: 77,736,824 (GRCm39) |
D204G |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,567,688 (GRCm39) |
I705T |
possibly damaging |
Het |
| Mpl |
G |
A |
4: 118,306,207 (GRCm39) |
P278S |
probably benign |
Het |
| Nkx3-2 |
T |
C |
5: 41,920,989 (GRCm39) |
E100G |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,833 (GRCm39) |
C56* |
probably null |
Het |
| Or8b12b |
G |
A |
9: 37,684,560 (GRCm39) |
V202M |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,317,974 (GRCm39) |
V992I |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,953,487 (GRCm39) |
N254D |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,288,655 (GRCm39) |
E103G |
probably damaging |
Het |
| Ppp2r1b |
C |
T |
9: 50,778,194 (GRCm39) |
R304* |
probably null |
Het |
| Pramel30 |
A |
G |
4: 144,058,233 (GRCm39) |
D280G |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,907,467 (GRCm39) |
A35V |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,312,788 (GRCm39) |
N194S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,862,248 (GRCm39) |
E379V |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,618,267 (GRCm39) |
I186F |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,055,047 (GRCm39) |
C85Y |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,989 (GRCm39) |
L935I |
probably damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,210,590 (GRCm39) |
Q46R |
probably benign |
Het |
| Ss18l1 |
A |
T |
2: 179,699,968 (GRCm39) |
Q276L |
probably damaging |
Het |
| Tas2r129 |
A |
T |
6: 132,928,815 (GRCm39) |
M251L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,693 (GRCm39) |
E458G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,058,626 (GRCm39) |
N594K |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
probably damaging |
Het |
|
| Other mutations in Or13p8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0153:Or13p8
|
UTSW |
4 |
118,583,530 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0335:Or13p8
|
UTSW |
4 |
118,584,367 (GRCm39) |
missense |
probably null |
|
|
R0517:Or13p8
|
UTSW |
4 |
118,583,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Or13p8
|
UTSW |
4 |
118,583,855 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6240:Or13p8
|
UTSW |
4 |
118,583,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6481:Or13p8
|
UTSW |
4 |
118,583,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Or13p8
|
UTSW |
4 |
118,584,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Or13p8
|
UTSW |
4 |
118,583,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7681:Or13p8
|
UTSW |
4 |
118,583,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7782:Or13p8
|
UTSW |
4 |
118,584,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7845:Or13p8
|
UTSW |
4 |
118,584,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8529:Or13p8
|
UTSW |
4 |
118,583,770 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8990:Or13p8
|
UTSW |
4 |
118,584,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9017:Or13p8
|
UTSW |
4 |
118,583,565 (GRCm39) |
missense |
probably benign |
|
|
R9176:Or13p8
|
UTSW |
4 |
118,583,850 (GRCm39) |
nonsense |
probably null |
|
|
R9797:Or13p8
|
UTSW |
4 |
118,584,079 (GRCm39) |
missense |
probably benign |
0.27 |
|
T0970:Or13p8
|
UTSW |
4 |
118,583,464 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Or13p8
|
UTSW |
4 |
118,584,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or13p8
|
UTSW |
4 |
118,584,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCCTGGATCTGAGTTATGC -3'
(R):5'- CCCAGGATGAAGTCTACTTGGTC -3'
Sequencing Primer
(F):5'- TGGATCTGAGTTATGCCACCACG -3'
(R):5'- TTCAAGACAGCAGGGATTTCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation