Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Or5an1'

706423

Institutional Source

Beutler Lab

Gene Symbol

Or5an1

Ensembl Gene

ENSMUSG00000095640

Gene Name

olfactory receptor family 5 subfamily AN member 1

Synonyms

GA_x6K02T2RE5P-2610001-2610414, Olfr1433, MOR214-4, GA_x6K02T2RE5P-2618516-2619454, Olfr1434, MOR214-4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12257218-12261352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12260939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 176 (R176G)

Ref Sequence

ENSEMBL: ENSMUSP00000146925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]

AlphaFold

Q7TQR9

Predicted Effect

probably benign
Transcript: ENSMUST00000207186
AA Change: R176G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000207915

Predicted Effect

probably benign
Transcript: ENSMUST00000208197
AA Change: R176G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,179,856 (GRCm39)	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138 (GRCm39)	L19S	possibly damaging	Het
Arpp21	T	A	9: 111,986,765 (GRCm39)	D262V	probably damaging	Het
Atp4a	A	C	7: 30,415,207 (GRCm39)	I276L	probably benign	Het
Axl	C	G	7: 25,460,982 (GRCm39)	E676Q	probably damaging	Het
Ces1g	T	C	8: 94,055,118 (GRCm39)	D193G	probably damaging	Het
Crym	A	G	7: 119,789,005 (GRCm39)	V274A	probably damaging	Het
Efcab5	T	A	11: 77,004,546 (GRCm39)	H924L	possibly damaging	Het
Eif1ad7	T	A	12: 88,238,709 (GRCm39)	N17I	unknown	Het
Eif3l	T	A	15: 78,978,423 (GRCm39)	M560K	probably benign	Het
Fam234b	C	A	6: 135,202,793 (GRCm39)	Y382*	probably null	Het
Fbxw19	T	C	9: 109,313,440 (GRCm39)	K253E	possibly damaging	Het
Fhip1a	T	C	3: 85,638,053 (GRCm39)	D82G	probably benign	Het
Flt3	A	G	5: 147,313,790 (GRCm39)	S87P	probably benign	Het
Garin3	A	T	11: 46,295,810 (GRCm39)	I61F		Het
Ggnbp2	A	G	11: 84,725,174 (GRCm39)	L627S	probably damaging	Het
Gm26661	T	G	14: 7,791,765 (GRCm38)	V60G	unknown	Het
Golt1a	T	C	1: 133,247,094 (GRCm39)	L34P	probably damaging	Het
Gp5	T	C	16: 30,127,808 (GRCm39)	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432 (GRCm39)	H385Q	possibly damaging	Het
Hcn1	G	A	13: 118,111,901 (GRCm39)	V622I	unknown	Het
Hipk4	A	G	7: 27,228,834 (GRCm39)	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,772,145 (GRCm39)	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,206,459 (GRCm39)	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,475,950 (GRCm39)	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,471,645 (GRCm39)		probably benign	Het
Ina	T	C	19: 47,003,816 (GRCm39)	L208P		Het
Iqcn	C	T	8: 71,161,794 (GRCm39)	T329I	possibly damaging	Het
Irak2	T	C	6: 113,615,604 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,338,481 (GRCm39)	E407K	probably benign	Het
Krt81	A	G	15: 101,361,335 (GRCm39)	S82P	probably damaging	Het
Ktn1	C	A	14: 47,948,353 (GRCm39)	Q963K	probably benign	Het
Lgalsl2	G	A	7: 5,362,527 (GRCm39)	V53I	possibly damaging	Het
Lrrc42	A	T	4: 107,104,913 (GRCm39)	Y17*	probably null	Het
Lrrc9	A	C	12: 72,496,171 (GRCm39)	E15D	probably damaging	Het
Mak	G	A	13: 41,202,839 (GRCm39)	T203I	probably benign	Het
Masp2	T	C	4: 148,692,485 (GRCm39)	V326A	possibly damaging	Het
Mdc1	T	C	17: 36,164,258 (GRCm39)	S1269P	probably benign	Het
Mink1	G	A	11: 70,502,477 (GRCm39)	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,686,903 (GRCm39)	S123*	probably null	Het
Myl10	C	T	5: 136,729,787 (GRCm39)	H142Y	probably damaging	Het
Ncan	T	C	8: 70,560,648 (GRCm39)	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,434,141 (GRCm39)	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Odad3	T	C	9: 21,903,207 (GRCm39)	E402G	probably damaging	Het
Or4p22	C	T	2: 88,317,787 (GRCm39)	T237I	probably damaging	Het
Or8c8	A	G	9: 38,164,962 (GRCm39)	K80R	probably benign	Het
Phldb2	A	G	16: 45,595,437 (GRCm39)	V830A	probably damaging	Het
Phospho2	T	C	2: 69,625,913 (GRCm39)	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,780,685 (GRCm39)		probably benign	Het
Ppcdc	T	C	9: 57,342,280 (GRCm39)	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,302,645 (GRCm39)	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,544 (GRCm39)	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613 (GRCm39)	Y53*	probably null	Het
Slc12a3	T	G	8: 95,083,028 (GRCm39)		probably null	Het
Slc26a11	A	G	11: 119,267,730 (GRCm39)	T456A	probably benign	Het
Slc26a5	G	T	5: 22,018,334 (GRCm39)	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,817,463 (GRCm39)	T690A	probably benign	Het
Spata24	A	T	18: 35,790,064 (GRCm39)	N142K	probably damaging	Het
Ubqlnl	A	T	7: 103,798,962 (GRCm39)	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,312,741 (GRCm39)		probably null	Het
Vmn1r2	C	A	4: 3,172,678 (GRCm39)	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,030,684 (GRCm39)	N128S	probably damaging	Het
Vmn2r61	G	T	7: 41,916,619 (GRCm39)	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 19,042,911 (GRCm39)	F106L	probably benign	Het
Zfp503	A	T	14: 22,035,353 (GRCm39)	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,547,113 (GRCm39)	V1432A	probably benign	Het
Zfp981	T	A	4: 146,619,884 (GRCm39)	L13I	possibly damaging	Het

Other mutations in Or5an1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Or5an1	APN	19	12,261,069 (GRCm39)	missense	probably damaging	1.00
IGL02415:Or5an1	APN	19	12,260,862 (GRCm39)	missense	probably benign	0.44
IGL02731:Or5an1	APN	19	12,261,206 (GRCm39)	missense	probably damaging	0.99
IGL02803:Or5an1	APN	19	12,261,347 (GRCm39)	missense	possibly damaging	0.94
IGL03050:Or5an1	UTSW	19	12,260,876 (GRCm39)	missense	probably benign
R0432:Or5an1	UTSW	19	12,261,267 (GRCm39)	missense	probably damaging	1.00
R2209:Or5an1	UTSW	19	12,261,224 (GRCm39)	missense	probably benign	0.41
R3710:Or5an1	UTSW	19	12,260,450 (GRCm39)	missense	probably damaging	1.00
R4724:Or5an1	UTSW	19	12,260,460 (GRCm39)	missense	probably damaging	1.00
R5133:Or5an1	UTSW	19	12,260,670 (GRCm39)	missense	possibly damaging	0.96
R5974:Or5an1	UTSW	19	12,261,200 (GRCm39)	missense	probably damaging	1.00
R6544:Or5an1	UTSW	19	12,260,519 (GRCm39)	missense	probably damaging	1.00
R7225:Or5an1	UTSW	19	12,260,831 (GRCm39)	missense	probably benign	0.00
R7320:Or5an1	UTSW	19	12,261,180 (GRCm39)	missense	possibly damaging	0.72
R7467:Or5an1	UTSW	19	12,260,839 (GRCm39)	nonsense	probably null
R7900:Or5an1	UTSW	19	12,260,705 (GRCm39)	missense	probably damaging	1.00
R8719:Or5an1	UTSW	19	12,260,792 (GRCm39)	missense	probably benign	0.13
R9135:Or5an1	UTSW	19	12,260,808 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGGGACTGAGTGAATCTTGC -3'
(R):5'- GTTGAAGGCCTTGGACCTAC -3'

Sequencing Primer
(F):5'- GAGTGAATCTTGCCTCATGACAGC -3'
(R):5'- GGACCTACCATTTGCTGAAGTGATC -3'

Posted On

2022-04-18