Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Or10al2'

517902

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

044557-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6415 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37982916-37983888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37983448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 178 (C178F)

Ref Sequence

ENSEMBL: ENSMUSP00000151212 (fasta)

Gene Model

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

AlphaFold

Q7TRJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122036
AA Change: C178F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: C178F

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

possibly damaging
Transcript: ENSMUST00000215811
AA Change: C178F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216551
AA Change: C178F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adam9	A	G	8: 25,468,498 (GRCm39)	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cckar	A	T	5: 53,860,398 (GRCm39)	C73S	probably damaging	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,089,102 (GRCm39)		probably null	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,586,375 (GRCm39)	D192V	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Scp2	T	G	4: 107,962,337 (GRCm39)	S63R	probably benign	Het
Sftpb	T	G	6: 72,281,633 (GRCm39)	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly 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
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
R7952:Or10al2	UTSW	17	37,983,708 (GRCm39)	missense	probably damaging	1.00
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'- AACCTTGTAAGTGAGATCCGAG -3'
(R):5'- TGAAGGCATCACCAGCACTG -3'

Sequencing Primer
(F):5'- AAGTGAGATCCGAGGTATCTCTC -3'
(R):5'- TGCAACCAGAATTCTGACATAGG -3'

Posted On

2018-05-24