Mutagenetix > Incidental Mutation

Incidental Mutation 'R7952:Or10al2'

649640

Institutional Source

Beutler Lab

Gene Symbol

Or10al2

Ensembl Gene

ENSMUSG00000080990

Gene Name

olfactory receptor family 10 subfamily AL member 2

Synonyms

GA_x6K02T2PSCP-2131124-2132089, MOR263-13, Olfr118

MMRRC Submission

045996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37982916-37983888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37983708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 265 (Y265H)

Ref Sequence

ENSEMBL: ENSMUSP00000150176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122036] [ENSMUST00000215811] [ENSMUST00000216551]

AlphaFold

Q7TRJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000122036
AA Change: Y265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: Y265H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	32	173	2e-6	PFAM
Pfam:7tm_4	37	314	2.1e-57	PFAM
Pfam:7TM_GPCR_Srsx	41	311	5.8e-6	PFAM
Pfam:7tm_1	47	296	1.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215811
AA Change: Y265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216551
AA Change: Y265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Adora1	A	G	1: 134,131,024 (GRCm39)	S216P	possibly damaging	Het
Arhgap17	G	T	7: 122,885,914 (GRCm39)	S739R	probably benign	Het
Bphl	A	G	13: 34,230,780 (GRCm39)	T75A	probably benign	Het
Ccdc73	G	A	2: 104,775,801 (GRCm39)		probably null	Het
Cela3b	T	C	4: 137,149,219 (GRCm39)	I262V	probably benign	Het
Chpf	T	C	1: 75,455,586 (GRCm39)	N55S	probably benign	Het
Chst8	A	G	7: 34,374,919 (GRCm39)	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 105,057,203 (GRCm39)	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,233,512 (GRCm39)		probably benign	Het
Cxadr	C	T	16: 78,131,123 (GRCm39)	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,703,096 (GRCm39)		probably null	Het
Dhx32	T	C	7: 133,350,725 (GRCm39)	Y115C	probably benign	Het
Dop1b	C	A	16: 93,546,848 (GRCm39)	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802 (GRCm39)	V1732A	possibly damaging	Het
Egf	C	T	3: 129,533,645 (GRCm39)	R65Q	probably damaging	Het
Fat4	T	G	3: 38,945,870 (GRCm39)	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,220,518 (GRCm39)	V588A	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Grik2	T	C	10: 49,298,633 (GRCm39)	I363V	probably benign	Het
Grik3	C	T	4: 125,598,340 (GRCm39)	T769I	probably damaging	Het
Hpd	A	T	5: 123,316,327 (GRCm39)	D141E	possibly damaging	Het
Hrc	A	T	7: 44,985,692 (GRCm39)	D281V	probably damaging	Het
Igfn1	A	T	1: 135,891,693 (GRCm39)	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,005,677 (GRCm39)	I502V	probably benign	Het
Kcnh8	A	T	17: 53,266,493 (GRCm39)	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,748,649 (GRCm39)	G2892R	unknown	Het
Lama4	T	G	10: 38,906,486 (GRCm39)	I284S	probably benign	Het
Madd	C	A	2: 90,992,886 (GRCm39)	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,980,693 (GRCm39)	F1421L	probably damaging	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nedd9	C	A	13: 41,470,431 (GRCm39)	D241Y	probably damaging	Het
Notch2	T	C	3: 98,007,552 (GRCm39)	V434A	probably benign	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or51g1	A	G	7: 102,633,721 (GRCm39)	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pramel41	T	C	5: 94,594,902 (GRCm39)	V254A	probably benign	Het
Prss55	A	G	14: 64,313,132 (GRCm39)	Y251H	probably damaging	Het
Rec8	T	C	14: 55,862,760 (GRCm39)	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,661,313 (GRCm39)		probably null	Het
Sec31b	A	G	19: 44,508,979 (GRCm39)	S667P	probably benign	Het
Smim17	A	G	7: 6,427,849 (GRCm39)	D45G	possibly damaging	Het
Sspo	A	G	6: 48,464,263 (GRCm39)	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,787,423 (GRCm39)	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,886,989 (GRCm39)	M1L	probably benign	Het
Tpx2	C	T	2: 152,735,514 (GRCm39)	A714V	probably damaging	Het
Trgc4	T	A	13: 19,533,740 (GRCm39)	S121R		Het
Trmt1	G	A	8: 85,415,969 (GRCm39)	R9H	possibly damaging	Het
Unc13a	A	T	8: 72,111,131 (GRCm39)	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,722,589 (GRCm39)	I10N	probably damaging	Het
Xkr4	A	G	1: 3,740,842 (GRCm39)	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,132,708 (GRCm39)	H274Q	probably damaging	Het

Other mutations in Or10al2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Or10al2	APN	17	37,983,778 (GRCm39)	missense	probably damaging	1.00
IGL02456:Or10al2	APN	17	37,983,340 (GRCm39)	missense	possibly damaging	0.90
IGL02750:Or10al2	APN	17	37,983,500 (GRCm39)	nonsense	probably null
IGL03083:Or10al2	APN	17	37,983,551 (GRCm39)	nonsense	probably null
IGL03339:Or10al2	APN	17	37,983,448 (GRCm39)	missense	possibly damaging	0.87
R0032:Or10al2	UTSW	17	37,983,378 (GRCm39)	missense	probably damaging	1.00
R1457:Or10al2	UTSW	17	37,983,816 (GRCm39)	nonsense	probably null
R1542:Or10al2	UTSW	17	37,983,142 (GRCm39)	missense	probably damaging	1.00
R1771:Or10al2	UTSW	17	37,983,554 (GRCm39)	missense	probably damaging	1.00
R1893:Or10al2	UTSW	17	37,983,747 (GRCm39)	nonsense	probably null
R2395:Or10al2	UTSW	17	37,983,587 (GRCm39)	nonsense	probably null
R3619:Or10al2	UTSW	17	37,983,531 (GRCm39)	missense	probably benign	0.05
R3917:Or10al2	UTSW	17	37,983,684 (GRCm39)	missense	probably damaging	1.00
R3937:Or10al2	UTSW	17	37,983,858 (GRCm39)	missense	probably benign	0.01
R5600:Or10al2	UTSW	17	37,983,176 (GRCm39)	missense	possibly damaging	0.91
R6415:Or10al2	UTSW	17	37,983,448 (GRCm39)	missense	possibly damaging	0.87
R6462:Or10al2	UTSW	17	37,983,111 (GRCm39)	missense	probably damaging	1.00
R7355:Or10al2	UTSW	17	37,983,301 (GRCm39)	missense	probably benign	0.02
R7861:Or10al2	UTSW	17	37,983,408 (GRCm39)	missense	possibly damaging	0.91
R7913:Or10al2	UTSW	17	37,982,999 (GRCm39)	missense	probably benign
R7969:Or10al2	UTSW	17	37,983,547 (GRCm39)	missense	probably damaging	1.00
R8879:Or10al2	UTSW	17	37,983,302 (GRCm39)	nonsense	probably null
R8923:Or10al2	UTSW	17	37,983,702 (GRCm39)	missense	probably benign	0.00
R9253:Or10al2	UTSW	17	37,983,637 (GRCm39)	missense	probably benign	0.00
R9778:Or10al2	UTSW	17	37,983,145 (GRCm39)	missense	probably damaging	0.97
R9789:Or10al2	UTSW	17	37,983,059 (GRCm39)	missense	probably damaging	1.00
RF003:Or10al2	UTSW	17	37,983,749 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGCGATACATCCCAAAATGAG -3'
(R):5'- GCTCTGCAAGGTTCTGTTACC -3'

Sequencing Primer
(F):5'- CCCAAAATGAGGCTGCAATCTTTG -3'
(R):5'- GTTACCTATTTATTGCCCGAGATG -3'

Posted On

2020-09-15