Mutagenetix > Incidental Mutation

Incidental Mutation 'R1704:Or1q1'

189947

Institutional Source

Beutler Lab

Gene Symbol

Or1q1

Ensembl Gene

ENSMUSG00000055838

Gene Name

olfactory receptor family 1 subfamily Q member 1

Synonyms

GA_x6K02T2NLDC-33688556-33689482, MOR138-3, Olfr357

MMRRC Submission

039737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1704 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36886824-36887750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36886896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 25 (I25F)

Ref Sequence

ENSEMBL: ENSMUSP00000149727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069578] [ENSMUST00000213218]

AlphaFold

Q8VFP4

Predicted Effect

probably benign
Transcript: ENSMUST00000069578
AA Change: I25F

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066272
Gene: ENSMUSG00000055838
AA Change: I25F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.6e-53	PFAM
Pfam:7tm_1	41	290	1.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213218
AA Change: I25F

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,146,164 (GRCm39)	H511Y	probably benign	Het
Aldh1l2	C	T	10: 83,344,524 (GRCm39)	A341T	probably benign	Het
Apon	T	C	10: 128,090,865 (GRCm39)	F181S	probably damaging	Het
Avpr1b	T	A	1: 131,537,242 (GRCm39)	L342Q	possibly damaging	Het
Cacna1c	A	T	6: 118,579,107 (GRCm39)	H1810Q	probably benign	Het
Camta1	T	C	4: 151,159,681 (GRCm39)	Y1593C	probably damaging	Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cep192	T	A	18: 67,989,327 (GRCm39)	S1825T	probably damaging	Het
Cntnap4	T	A	8: 113,484,155 (GRCm39)	W403R	probably damaging	Het
Crppa	A	G	12: 36,571,493 (GRCm39)	E279G	probably benign	Het
D630045J12Rik	G	A	6: 38,116,362 (GRCm39)	P1753S	probably benign	Het
Dsg4	T	C	18: 20,604,646 (GRCm39)	Y1038H	probably damaging	Het
Fat1	C	T	8: 45,478,613 (GRCm39)	T2553I	probably damaging	Het
Fem1c	A	T	18: 46,639,263 (GRCm39)	N246K	probably benign	Het
Frmd8	T	A	19: 5,919,510 (GRCm39)	Q179L	probably benign	Het
Gbp10	A	G	5: 105,372,217 (GRCm39)	F181S	probably damaging	Het
Hfe	T	C	13: 23,888,391 (GRCm39)	Y265C	probably damaging	Het
Kifap3	A	G	1: 163,656,765 (GRCm39)	N362D	possibly damaging	Het
Lima1	A	G	15: 99,717,617 (GRCm39)	F130L	probably benign	Het
Lipo3	A	T	19: 33,757,743 (GRCm39)	V242E	possibly damaging	Het
Nf1	T	A	11: 79,354,127 (GRCm39)		probably null	Het
Nos1ap	C	G	1: 170,165,781 (GRCm39)	E161Q	probably damaging	Het
Or2t43	A	T	11: 58,457,580 (GRCm39)	M197K	probably damaging	Het
Pde4dip	C	T	3: 97,661,576 (GRCm39)	V611I	probably benign	Het
Pdk2	T	C	11: 94,919,376 (GRCm39)	I300V	possibly damaging	Het
Polr2b	A	G	5: 77,490,407 (GRCm39)	D849G	possibly damaging	Het
Polr3a	G	A	14: 24,534,188 (GRCm39)	Q106*	probably null	Het
Prr14l	G	T	5: 32,987,626 (GRCm39)	A623D	probably benign	Het
Rab43	A	C	6: 87,788,363 (GRCm39)		probably null	Het
Sart3	G	A	5: 113,884,068 (GRCm39)	T648M	probably benign	Het
Scn10a	T	C	9: 119,438,460 (GRCm39)	D1803G	probably damaging	Het
Sec11a	A	T	7: 80,584,848 (GRCm39)	S30T	possibly damaging	Het
Sez6l2	G	A	7: 126,557,513 (GRCm39)	G309E	probably damaging	Het
Snx14	A	C	9: 88,295,591 (GRCm39)	D191E	probably damaging	Het
Sox6	A	T	7: 115,076,183 (GRCm39)	N777K	possibly damaging	Het
Susd4	A	G	1: 182,681,678 (GRCm39)	N173S	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgfbrap1	G	T	1: 43,093,816 (GRCm39)	Q559K	probably benign	Het
Tmco1	T	C	1: 167,153,506 (GRCm39)	S129P	possibly damaging	Het
Tmprss11a	T	C	5: 86,576,561 (GRCm39)	T97A	probably benign	Het
Tnni3k	G	A	3: 154,533,145 (GRCm39)	A774V	probably benign	Het
Tshz3	T	C	7: 36,470,785 (GRCm39)	S925P	possibly damaging	Het
Ush2a	T	C	1: 188,553,993 (GRCm39)	V3494A	probably damaging	Het
Vmn2r9	T	C	5: 108,994,266 (GRCm39)	D461G	probably damaging	Het
Zan	A	T	5: 137,432,264 (GRCm39)	C2344*	probably null	Het
Zfp629	A	G	7: 127,210,036 (GRCm39)	I591T	probably benign	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Zmym1	A	T	4: 126,942,177 (GRCm39)	I737N	probably damaging	Het
Zranb3	T	C	1: 128,019,740 (GRCm39)	M1V	probably null	Het

Other mutations in Or1q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Or1q1	APN	2	36,886,955 (GRCm39)	missense	probably benign
IGL02043:Or1q1	APN	2	36,887,477 (GRCm39)	nonsense	probably null
IGL02277:Or1q1	APN	2	36,887,196 (GRCm39)	splice site	probably null
IGL03037:Or1q1	APN	2	36,887,560 (GRCm39)	missense	probably benign	0.00
IGL03378:Or1q1	APN	2	36,886,915 (GRCm39)	missense	probably damaging	1.00
R0212:Or1q1	UTSW	2	36,887,644 (GRCm39)	missense	possibly damaging	0.92
R0212:Or1q1	UTSW	2	36,887,335 (GRCm39)	missense	probably damaging	0.98
R1334:Or1q1	UTSW	2	36,886,872 (GRCm39)	missense	probably benign	0.27
R2020:Or1q1	UTSW	2	36,887,664 (GRCm39)	missense	possibly damaging	0.85
R2364:Or1q1	UTSW	2	36,887,577 (GRCm39)	missense	probably damaging	1.00
R4700:Or1q1	UTSW	2	36,887,515 (GRCm39)	missense	probably benign	0.01
R5105:Or1q1	UTSW	2	36,887,469 (GRCm39)	splice site	probably null
R5234:Or1q1	UTSW	2	36,887,107 (GRCm39)	missense	probably benign
R5557:Or1q1	UTSW	2	36,887,358 (GRCm39)	missense	probably damaging	1.00
R5966:Or1q1	UTSW	2	36,886,957 (GRCm39)	missense	possibly damaging	0.96
R6480:Or1q1	UTSW	2	36,887,007 (GRCm39)	missense	probably benign	0.00
R7046:Or1q1	UTSW	2	36,887,173 (GRCm39)	missense	probably benign	0.39
R7350:Or1q1	UTSW	2	36,886,873 (GRCm39)	missense	possibly damaging	0.84
R7583:Or1q1	UTSW	2	36,887,092 (GRCm39)	missense	probably damaging	1.00
R8128:Or1q1	UTSW	2	36,887,673 (GRCm39)	missense	probably benign	0.13
R8196:Or1q1	UTSW	2	36,886,873 (GRCm39)	missense	possibly damaging	0.84
R8475:Or1q1	UTSW	2	36,887,066 (GRCm39)	missense	probably damaging	0.99
R8867:Or1q1	UTSW	2	36,887,691 (GRCm39)	missense	probably damaging	1.00
R9550:Or1q1	UTSW	2	36,887,137 (GRCm39)	missense	probably damaging	1.00
R9627:Or1q1	UTSW	2	36,887,665 (GRCm39)	missense
R9716:Or1q1	UTSW	2	36,887,290 (GRCm39)	missense	probably damaging	0.98
Z1088:Or1q1	UTSW	2	36,887,717 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTTGATACTGGAGCACAGCAGTGAG -3'
(R):5'- GTACCTGTCATAGGCCATCACAGC -3'

Sequencing Primer
(F):5'- CAGCAGTGAGCATTACTAAGTAGTC -3'
(R):5'- CCCACATAGGAAATGACCTTTGTAG -3'

Posted On

2014-05-14