Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Or10al2'

602662

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

Accession Numbers

Essential gene?

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

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37982916-37983888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37983749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 278 (K278N)

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: K278N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: K278N

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: K278N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216551
AA Change: K278N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
A630073D07Rik	A	C	6: 132,604,406 (GRCm39)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,686,727 (GRCm39)		probably benign	Het
Arb2a	A	T	13: 77,982,794 (GRCm39)	I135L	possibly damaging	Het
Arc	G	C	15: 74,543,980 (GRCm39)	T81S	probably benign	Het
Atad5	A	T	11: 80,002,386 (GRCm39)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,196,957 (GRCm39)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,196,958 (GRCm39)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 57,965,574 (GRCm39)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cep192	A	T	18: 67,971,027 (GRCm39)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,498,921 (GRCm39)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,593,440 (GRCm39)	M14V	probably benign	Het
Colec10	A	G	15: 54,325,787 (GRCm39)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,707,919 (GRCm39)	D748G	probably damaging	Het
Etl4	C	T	2: 20,524,729 (GRCm39)	Q21*	probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,356,131 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,821,865 (GRCm39)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,612 (GRCm39)		probably null	Het
Garin5a	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,149,951 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,937,518 (GRCm39)		probably null	Het
Grip2	C	T	6: 91,760,574 (GRCm39)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,500,312 (GRCm39)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Il12a	A	T	3: 68,602,562 (GRCm39)	T102S	probably benign	Het
Il1a	T	A	2: 129,144,852 (GRCm39)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 82,696,150 (GRCm39)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,447,806 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGTGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,960,507 (GRCm39)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,567,258 (GRCm39)	A1821E	unknown	Het
Maz	A	G	7: 126,624,669 (GRCm39)	C284R	probably damaging	Het
Med23	A	G	10: 24,779,683 (GRCm39)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,427,099 (GRCm39)		probably benign	Het
Mmp14	C	T	14: 54,676,471 (GRCm39)	R339*	probably null	Het
Mroh9	T	G	1: 162,885,630 (GRCm39)	K334T	probably damaging	Het
Nab1	A	T	1: 52,518,441 (GRCm39)	C320S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Nudt4	T	C	10: 95,385,236 (GRCm39)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,458,084 (GRCm39)		probably benign	Het
Or2d4	T	A	7: 106,543,855 (GRCm39)	M118L	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	TTA	TTAGTA	7: 102,747,513 (GRCm39)		probably null	Het
Or7g16	T	C	9: 18,726,778 (GRCm39)	T271A	probably benign	Het
Or9a7	T	C	6: 40,521,296 (GRCm39)	I206V	probably benign	Het
Plxnc1	T	C	10: 94,630,306 (GRCm39)	Y1531C	probably damaging	Het
Pnma8b	TGA	TGAAGA	7: 16,679,941 (GRCm39)		probably benign	Het
Rp1	A	G	1: 4,414,917 (GRCm39)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 24,164,343 (GRCm39)		probably benign	Het
Sepsecs	G	A	5: 52,804,533 (GRCm39)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,646,828 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Tfeb	C	T	17: 48,099,003 (GRCm39)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,593,335 (GRCm39)		probably null	Het
Tmem94	G	A	11: 115,686,958 (GRCm39)	V1108M	probably damaging	Het
Usp35	T	C	7: 96,971,303 (GRCm39)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,629,598 (GRCm39)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp407	A	T	18: 84,227,688 (GRCm39)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,617,704 (GRCm39)	S254P	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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTGCAATCTTTGTGGCC -3'
(R):5'- TGCACATTTTCATTAGCCAGCAG -3'

Sequencing Primer
(F):5'- GGCCGTAGTTCTCTGCATATCTAG -3'
(R):5'- AGCTCTGCAAGGTTCTGTTAC -3'

Posted On

2019-12-04