Mutagenetix > Incidental Mutation

Incidental Mutation 'R8183:Or10q12'

634751

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

067781-MU

Accession Numbers

Essential gene?

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

Stock #

R8183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13745708-13746667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13746086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 127 (Y127N)

Ref Sequence

ENSEMBL: ENSMUSP00000057468 (fasta)

Gene Model

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

AlphaFold

Q8VEZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061669
AA Change: Y127N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057468
Gene: ENSMUSG00000047207
AA Change: Y127N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	A	15: 72,991,337 (GRCm39)	K534*	probably null	Het
Art1	A	T	7: 101,756,633 (GRCm39)	I275F	probably damaging	Het
Atp1a2	T	C	1: 172,116,918 (GRCm39)	N233S	probably damaging	Het
B3gnt2	T	A	11: 22,786,373 (GRCm39)	I272L	probably benign	Het
Bpifa1	A	G	2: 153,988,039 (GRCm39)	Q194R	possibly damaging	Het
Cand2	A	G	6: 115,768,879 (GRCm39)	E563G	probably benign	Het
Clns1a	A	G	7: 97,354,888 (GRCm39)	Y78C	probably damaging	Het
Col20a1	T	C	2: 180,640,207 (GRCm39)	V483A		Het
Col3a1	C	G	1: 45,373,970 (GRCm39)	P621R	unknown	Het
Cst9	G	A	2: 148,678,634 (GRCm39)	R88H	possibly damaging	Het
Cxxc1	T	C	18: 74,353,428 (GRCm39)	Y513H	probably damaging	Het
Dcdc2a	T	C	13: 25,291,633 (GRCm39)	F206S	possibly damaging	Het
Dgkz	C	A	2: 91,769,937 (GRCm39)	G576C	probably damaging	Het
Dpy19l3	A	G	7: 35,394,814 (GRCm39)	F575L	probably damaging	Het
Ftcd	T	A	10: 76,411,541 (GRCm39)	M1K	probably null	Het
Gtf2ird1	T	C	5: 134,386,689 (GRCm39)	D1044G	unknown	Het
Gzmc	A	T	14: 56,470,164 (GRCm39)	M111K	probably damaging	Het
Hpse	T	A	5: 100,832,984 (GRCm39)	Y437F	probably damaging	Het
Ifi203	A	G	1: 173,756,266 (GRCm39)	S506P	unknown	Het
Igsf10	A	T	3: 59,238,036 (GRCm39)	I715K	probably benign	Het
Ints9	T	C	14: 65,273,902 (GRCm39)	V569A	probably damaging	Het
Itih3	A	G	14: 30,631,433 (GRCm39)	F821S	probably benign	Het
Kcnh7	T	C	2: 62,533,321 (GRCm39)	H1186R	probably damaging	Het
Krt33a	A	G	11: 99,905,575 (GRCm39)		probably null	Het
Lonrf1	A	T	8: 36,689,819 (GRCm39)	M718K	possibly damaging	Het
Mefv	C	T	16: 3,526,446 (GRCm39)	R756K	possibly damaging	Het
Metap1d	T	A	2: 71,337,207 (GRCm39)	F40Y	possibly damaging	Het
Myh1	A	T	11: 67,092,832 (GRCm39)	D42V	possibly damaging	Het
Myo15b	T	G	11: 115,773,843 (GRCm39)		probably null	Het
Nsd1	T	C	13: 55,460,186 (GRCm39)	S2241P	probably damaging	Het
Osbpl3	C	A	6: 50,280,089 (GRCm39)	R710L	probably benign	Het
Osbpl6	C	T	2: 76,415,404 (GRCm39)	R589C	probably damaging	Het
Pam	T	C	1: 97,762,199 (GRCm39)	T795A	probably benign	Het
Patj	A	C	4: 98,562,466 (GRCm39)	E1534D	probably damaging	Het
Plscr5	A	G	9: 92,080,655 (GRCm39)	Q47R	probably benign	Het
Ppil1	A	T	17: 29,481,053 (GRCm39)		probably null	Het
Sec23b	G	T	2: 144,401,189 (GRCm39)	V17L	probably benign	Het
Serpina3j	C	A	12: 104,284,754 (GRCm39)	Y310*	probably null	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo3	A	T	6: 29,558,758 (GRCm39)	M724K	probably damaging	Het
Trappc11	T	G	8: 47,982,391 (GRCm39)	E116A	possibly damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trrap	T	G	5: 144,765,343 (GRCm39)	S2501A	probably benign	Het
Ubr4	T	G	4: 139,209,782 (GRCm39)	S5005A	unknown	Het
Urah	A	T	7: 140,416,707 (GRCm39)	Q60L	probably benign	Het
Vmn2r28	A	T	7: 5,491,147 (GRCm39)	C367S	probably damaging	Het
Zmym1	T	C	4: 126,952,649 (GRCm39)	D44G	probably benign	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
R1583:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.10
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
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'- CCTGGGCAGTCTGTCATTTG -3'
(R):5'- GGTTCACATGGATGTCAGCAC -3'

Sequencing Primer
(F):5'- GTGGAAATCTGCTACATCACAG -3'
(R):5'- ATGGATGTCAGCACAGGCC -3'

Posted On

2020-07-13