Mutagenetix > Incidental Mutation

Incidental Mutation 'R0561:Or10q1'

45907

Institutional Source

Beutler Lab

Gene Symbol

Or10q1

Ensembl Gene

ENSMUSG00000050865

Gene Name

olfactory receptor family 10 subfamily Q member 1

Synonyms

MOR266-1, Olfr1494, GA_x6K02T2RE5P-4082427-4083374

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13726472-13727419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13726662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 64 (Y64F)

Ref Sequence

ENSEMBL: ENSMUSP00000146563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051768] [ENSMUST00000207836]

AlphaFold

Q8VGP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000051768
AA Change: Y64F

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

SMART Domains

Protein: ENSMUSP00000056291
Gene: ENSMUSG00000050865
AA Change: Y64F

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
Pfam:7tm_4	35	313	3.2e-53	PFAM
Pfam:7tm_1	45	295	7.5e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207836
AA Change: Y64F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214697

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,335,204 (GRCm39)	D30G	possibly damaging	Het
Apc	A	T	18: 34,446,356 (GRCm39)	H1050L	possibly damaging	Het
Armc2	A	G	10: 41,869,188 (GRCm39)	V166A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,793 (GRCm39)	I173F	probably damaging	Het
Bpifb4	A	G	2: 153,786,742 (GRCm39)	D298G	probably damaging	Het
C4b	T	A	17: 34,953,391 (GRCm39)	S1031C	probably damaging	Het
Calcr	A	G	6: 3,692,630 (GRCm39)	I408T	probably damaging	Het
Catsperg1	T	C	7: 28,881,737 (GRCm39)	N1009S	probably damaging	Het
Ces2a	T	C	8: 105,464,165 (GRCm39)	S266P	probably benign	Het
Chrna1	A	G	2: 73,396,596 (GRCm39)	V433A	possibly damaging	Het
Ctnnb1	G	A	9: 120,780,788 (GRCm39)	V291M	probably damaging	Het
Dcbld1	T	C	10: 52,138,032 (GRCm39)	Y99H	probably benign	Het
Ddx60	A	T	8: 62,470,828 (GRCm39)	H1440L	possibly damaging	Het
Dsg1c	A	T	18: 20,407,832 (GRCm39)	I393L	probably benign	Het
Eif5	G	T	12: 111,506,950 (GRCm39)	R128L	probably benign	Het
Ercc3	A	G	18: 32,378,592 (GRCm39)	D191G	possibly damaging	Het
Gp1ba	A	T	11: 70,530,416 (GRCm39)		probably benign	Het
Krt24	C	T	11: 99,175,439 (GRCm39)	E199K	probably damaging	Het
Lrif1	G	T	3: 106,639,481 (GRCm39)	A164S	probably damaging	Het
Map2	A	G	1: 66,464,656 (GRCm39)	D1682G	probably damaging	Het
Megf8	C	T	7: 25,028,257 (GRCm39)	P274S	probably benign	Het
Mslnl	C	T	17: 25,962,177 (GRCm39)	Q192*	probably null	Het
Nfkb2	T	C	19: 46,298,301 (GRCm39)	V535A	possibly damaging	Het
Or4a66	A	G	2: 88,530,914 (GRCm39)	I253T	possibly damaging	Het
Or4c11	T	A	2: 88,695,024 (GRCm39)	V25E	possibly damaging	Het
Or7a37	T	A	10: 78,805,729 (GRCm39)	L82*	probably null	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8g22	C	T	9: 38,958,669 (GRCm39)	M15I	probably damaging	Het
Pag1	T	A	3: 9,764,481 (GRCm39)	Y224F	probably damaging	Het
Pbrm1	A	C	14: 30,757,948 (GRCm39)	I193L	probably benign	Het
Phrf1	T	C	7: 140,834,876 (GRCm39)	V17A	probably benign	Het
Plekhg2	T	G	7: 28,069,908 (GRCm39)	T42P	probably benign	Het
Pmp22	T	A	11: 63,025,250 (GRCm39)	W28R	probably damaging	Het
Ppp1r13b	A	T	12: 111,832,880 (GRCm39)	H82Q	probably damaging	Het
Rgs8	T	C	1: 153,541,668 (GRCm39)		probably null	Het
Rtl1	A	G	12: 109,560,363 (GRCm39)	V492A	probably damaging	Het
Slc22a27	A	G	19: 7,857,527 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,090 (GRCm39)	E79G	probably null	Het
Syde1	C	T	10: 78,425,210 (GRCm39)	R267H	probably damaging	Het
Tas2r114	A	G	6: 131,666,758 (GRCm39)	I90T	probably benign	Het
Tjp3	C	T	10: 81,109,674 (GRCm39)	G843D	probably benign	Het
Tln1	A	T	4: 43,550,304 (GRCm39)	M453K	possibly damaging	Het
Ttc39a	A	T	4: 109,297,799 (GRCm39)	Y408F	probably damaging	Het
Usp39	T	G	6: 72,313,368 (GRCm39)	Q274P	probably damaging	Het
Uvrag	C	T	7: 98,537,768 (GRCm39)	V476I	probably damaging	Het
Vcan	T	A	13: 89,860,372 (GRCm39)	T332S	probably damaging	Het
Vcan	T	A	13: 89,879,583 (GRCm39)	H22L	possibly damaging	Het
Wls	A	G	3: 159,578,705 (GRCm39)	D89G	probably benign	Het
Zfhx2	A	T	14: 55,303,346 (GRCm39)	V1546E	probably benign	Het
Zfp457	T	A	13: 67,442,134 (GRCm39)	H147L	probably damaging	Het

Other mutations in Or10q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Or10q1	APN	19	13,727,165 (GRCm39)	missense	probably benign	0.04
IGL02335:Or10q1	APN	19	13,727,298 (GRCm39)	missense	probably benign	0.01
IGL02388:Or10q1	APN	19	13,726,994 (GRCm39)	missense	possibly damaging	0.91
IGL03231:Or10q1	APN	19	13,726,749 (GRCm39)	missense	probably benign	0.35
R0133:Or10q1	UTSW	19	13,727,352 (GRCm39)	missense	probably damaging	1.00
R0142:Or10q1	UTSW	19	13,726,619 (GRCm39)	missense	probably benign	0.00
R0783:Or10q1	UTSW	19	13,727,040 (GRCm39)	missense	probably damaging	0.99
R1826:Or10q1	UTSW	19	13,726,711 (GRCm39)	missense	probably benign	0.05
R1967:Or10q1	UTSW	19	13,727,417 (GRCm39)	makesense	probably null
R3706:Or10q1	UTSW	19	13,726,476 (GRCm39)	missense	probably benign	0.42
R5417:Or10q1	UTSW	19	13,727,217 (GRCm39)	missense	probably benign	0.18
R6508:Or10q1	UTSW	19	13,726,718 (GRCm39)	missense	probably damaging	1.00
R7126:Or10q1	UTSW	19	13,726,887 (GRCm39)	missense	possibly damaging	0.90
R7262:Or10q1	UTSW	19	13,726,535 (GRCm39)	missense	probably benign	0.02
R7395:Or10q1	UTSW	19	13,726,502 (GRCm39)	missense	probably damaging	0.98
R7740:Or10q1	UTSW	19	13,727,328 (GRCm39)	missense	probably benign	0.00
R7744:Or10q1	UTSW	19	13,727,419 (GRCm39)	makesense	probably null
R7864:Or10q1	UTSW	19	13,726,710 (GRCm39)	missense	probably benign	0.03
R8495:Or10q1	UTSW	19	13,726,593 (GRCm39)	missense	possibly damaging	0.95
R9372:Or10q1	UTSW	19	13,727,069 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGTCCTCAATCAGTCTGGGACCAC -3'
(R):5'- TGGTCATGTCCACAGAAGGGCAAG -3'

Sequencing Primer
(F):5'- ACCACTGAGTTTGTGTTCCG -3'
(R):5'- ATACCTGTCATAGGCCATGACTG -3'

Posted On

2013-06-11