Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Or10q12'

177292

Institutional Source

Beutler Lab

Gene Symbol

Or10q12

Ensembl Gene

ENSMUSG00000047207

Gene Name

olfactory receptor family 10 subfamily Q member 12

Synonyms

Olfr1495, GA_x6K02T2RE5P-4101369-4102328, MOR266-9

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13745708-13746667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13745874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 56 (H56L)

Ref Sequence

ENSEMBL: ENSMUSP00000150205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061669] [ENSMUST00000215930] [ENSMUST00000216980]

AlphaFold

Q8VEZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000061669
AA Change: H56L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000057468
Gene: ENSMUSG00000047207
AA Change: H56L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	1.4e-52	PFAM
Pfam:7tm_1	45	295	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215930
AA Change: H56L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000216980
AA Change: H56L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.2963

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	possibly damaging	Het

Other mutations in Or10q12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Or10q12	APN	19	13,745,901 (GRCm39)	missense	probably damaging	1.00
IGL01869:Or10q12	APN	19	13,746,534 (GRCm39)	missense	probably benign	0.02
IGL02088:Or10q12	APN	19	13,746,030 (GRCm39)	missense	probably damaging	1.00
R1713:Or10q12	UTSW	19	13,746,659 (GRCm39)	missense	probably benign	0.00
R1859:Or10q12	UTSW	19	13,746,088 (GRCm39)	nonsense	probably null
R3717:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3718:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3881:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R4370:Or10q12	UTSW	19	13,746,315 (GRCm39)	missense	probably benign	0.02
R4873:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R4875:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R6335:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R6352:Or10q12	UTSW	19	13,745,828 (GRCm39)	missense	probably benign
R7038:Or10q12	UTSW	19	13,745,715 (GRCm39)	missense	probably benign
R7107:Or10q12	UTSW	19	13,746,525 (GRCm39)	missense	probably benign	0.22
R7504:Or10q12	UTSW	19	13,746,096 (GRCm39)	missense	probably damaging	1.00
R7626:Or10q12	UTSW	19	13,745,709 (GRCm39)	start codon destroyed	probably null	0.92
R7812:Or10q12	UTSW	19	13,746,380 (GRCm39)	missense	probably benign	0.05
R7852:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.00
R7860:Or10q12	UTSW	19	13,745,716 (GRCm39)	missense	probably benign	0.09
R8183:Or10q12	UTSW	19	13,746,086 (GRCm39)	missense	probably damaging	0.99
R8357:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8457:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8716:Or10q12	UTSW	19	13,746,185 (GRCm39)	missense	probably damaging	0.98
Z1088:Or10q12	UTSW	19	13,745,780 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GCCCAATTAATGAAGGCGTCCAGAG -3'
(R):5'- TTTGTGTCCCACAACCAGCCAG -3'

Sequencing Primer
(F):5'- AACTCAGAATTGGCCTCTCTAC -3'
(R):5'- CAACCAGCCAGTGATATGGG -3'

Posted On

2014-04-24