Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Or5an1c'

36384

Institutional Source

Beutler Lab

Gene Symbol

Or5an1c

Ensembl Gene

ENSMUSG00000067519

Gene Name

olfactory receptor family 5 subfamily AN member 1C

Synonyms

MOR214-1, Olfr262, GA_x6K02T2N4A9-18144-19082, MOR214-9

MMRRC Submission

038571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12218085-12219023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12218440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 195 (F195S)

Ref Sequence

ENSEMBL: ENSMUSP00000085120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087818]

AlphaFold

Q8VFV8

Predicted Effect

probably benign
Transcript: ENSMUST00000087818
AA Change: F195S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: F195S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	2.3e-55	PFAM
Pfam:7tm_1	42	291	1.2e-20	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,088 (GRCm39)	M173K	probably benign	Het
Abcb1b	T	A	5: 8,856,009 (GRCm39)	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,566,177 (GRCm39)	Y290C	probably damaging	Het
Alg12	A	C	15: 88,700,352 (GRCm39)	I28R	possibly damaging	Het
Amer2	A	T	14: 60,616,984 (GRCm39)	D393V	probably damaging	Het
Anxa5	A	T	3: 36,511,618 (GRCm39)	V153D	probably damaging	Het
Arl5a	T	C	2: 52,306,141 (GRCm39)	M64V	probably benign	Het
Astn1	T	C	1: 158,516,118 (GRCm39)	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,297,713 (GRCm39)	S424P	possibly damaging	Het
AW551984	A	T	9: 39,510,617 (GRCm39)	S239R	probably benign	Het
Baz1b	T	C	5: 135,268,985 (GRCm39)	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 123,361,799 (GRCm39)	L408I	probably benign	Het
Cdc27	A	T	11: 104,419,250 (GRCm39)	N227K	possibly damaging	Het
Cdh20	A	T	1: 110,036,486 (GRCm39)	Q555H	probably damaging	Het
Cdh23	T	A	10: 60,215,094 (GRCm39)	N1412I	probably damaging	Het
Cdhr2	T	C	13: 54,866,105 (GRCm39)	S302P	probably benign	Het
Cep350	C	A	1: 155,782,317 (GRCm39)	E1563D	probably benign	Het
Cfap221	T	A	1: 119,912,753 (GRCm39)	E107V	probably benign	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Coro6	A	T	11: 77,354,916 (GRCm39)	I60F	probably benign	Het
Dennd2b	A	T	7: 109,138,156 (GRCm39)	V753E	probably damaging	Het
Dock10	G	T	1: 80,573,400 (GRCm39)	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,345,119 (GRCm39)	N286K	probably damaging	Het
Fam83g	G	T	11: 61,593,935 (GRCm39)	E490*	probably null	Het
Gnb1l	T	C	16: 18,371,211 (GRCm39)	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,885,747 (GRCm39)	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,470,276 (GRCm39)	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Il17ra	G	A	6: 120,455,410 (GRCm39)	V340M	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731 (GRCm39)	H76Q	probably benign	Het
Klhl25	T	C	7: 75,516,264 (GRCm39)	L390P	probably damaging	Het
Klhl26	T	C	8: 70,904,479 (GRCm39)	D443G	probably damaging	Het
Lama3	A	T	18: 12,640,064 (GRCm39)	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,599,984 (GRCm39)	A385V	probably benign	Het
Maea	C	T	5: 33,517,787 (GRCm39)	A109V	probably benign	Het
Mtor	A	T	4: 148,570,507 (GRCm39)	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,243,977 (GRCm39)	D202G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Nup155	C	T	15: 8,161,027 (GRCm39)	R571W	probably damaging	Het
Nup160	T	A	2: 90,539,188 (GRCm39)	M789K	probably benign	Het
Odad2	T	A	18: 7,217,800 (GRCm39)	H638L	probably benign	Het
Or5p50	A	T	7: 107,422,124 (GRCm39)	L184*	probably null	Het
Or8d2b	A	T	9: 38,788,481 (GRCm39)	H3L	probably benign	Het
Pgpep1	G	T	8: 71,105,174 (GRCm39)		probably null	Het
Pkd1l2	C	T	8: 117,748,589 (GRCm39)	V1861M	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plin4	G	T	17: 56,411,667 (GRCm39)	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902 (GRCm39)	D16G	possibly damaging	Het
Pramel22	G	T	4: 143,382,071 (GRCm39)	Y208*	probably null	Het
Prdm16	A	T	4: 154,426,513 (GRCm39)	I424N	probably damaging	Het
Psen2	T	A	1: 180,056,410 (GRCm39)	I396F	probably damaging	Het
Psip1	C	T	4: 83,403,949 (GRCm39)		probably null	Het
Ptprd	G	A	4: 76,055,083 (GRCm39)	T215I	probably damaging	Het
Rec114	A	G	9: 58,648,822 (GRCm39)	S2P	probably benign	Het
Rexo1	A	G	10: 80,378,410 (GRCm39)	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,527,118 (GRCm39)	M1436T	probably benign	Het
Rnf213	T	A	11: 119,316,937 (GRCm39)	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,296,069 (GRCm39)	G83S	probably damaging	Het
Ryr2	T	G	13: 11,683,725 (GRCm39)	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,003,401 (GRCm39)	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,762,828 (GRCm39)		probably null	Het
Slc5a9	A	T	4: 111,749,033 (GRCm39)	Y98*	probably null	Het
Smc6	T	C	12: 11,333,175 (GRCm39)		probably null	Het
Sptb	G	T	12: 76,647,157 (GRCm39)	F1959L	probably benign	Het
Srgap1	T	A	10: 121,621,610 (GRCm39)	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,931,466 (GRCm39)	C224*	probably null	Het
Ston2	A	T	12: 91,614,634 (GRCm39)	H591Q	probably benign	Het
Tbx3	C	T	5: 119,813,315 (GRCm39)	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,886 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,364,732 (GRCm39)	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Zfpm2	A	G	15: 40,637,462 (GRCm39)	E74G	possibly damaging	Het
Zwint	C	A	10: 72,493,127 (GRCm39)	S223*	probably null	Het

Other mutations in Or5an1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Or5an1c	APN	19	12,218,891 (GRCm39)	missense	probably damaging	0.99
IGL02170:Or5an1c	APN	19	12,218,120 (GRCm39)	missense	probably benign
IGL02748:Or5an1c	APN	19	12,218,204 (GRCm39)	missense	probably benign	0.01
IGL02896:Or5an1c	APN	19	12,218,353 (GRCm39)	nonsense	probably null
R0374:Or5an1c	UTSW	19	12,218,505 (GRCm39)	missense	probably damaging	1.00
R1226:Or5an1c	UTSW	19	12,218,950 (GRCm39)	missense	probably benign
R1319:Or5an1c	UTSW	19	12,218,866 (GRCm39)	missense	probably damaging	1.00
R1426:Or5an1c	UTSW	19	12,218,546 (GRCm39)	missense	possibly damaging	0.81
R1453:Or5an1c	UTSW	19	12,218,956 (GRCm39)	missense	probably benign
R1675:Or5an1c	UTSW	19	12,218,195 (GRCm39)	missense	probably benign	0.37
R1773:Or5an1c	UTSW	19	12,219,023 (GRCm39)	start codon destroyed	probably null	0.03
R1778:Or5an1c	UTSW	19	12,218,819 (GRCm39)	missense	probably benign
R1820:Or5an1c	UTSW	19	12,218,612 (GRCm39)	missense	probably damaging	1.00
R3161:Or5an1c	UTSW	19	12,218,860 (GRCm39)	missense	probably benign	0.06
R3412:Or5an1c	UTSW	19	12,218,954 (GRCm39)	missense	probably benign	0.00
R4387:Or5an1c	UTSW	19	12,218,503 (GRCm39)	missense	probably damaging	0.98
R4389:Or5an1c	UTSW	19	12,218,503 (GRCm39)	missense	probably damaging	0.98
R4782:Or5an1c	UTSW	19	12,218,936 (GRCm39)	missense	probably benign	0.01
R4885:Or5an1c	UTSW	19	12,218,082 (GRCm39)	splice site	probably null
R4915:Or5an1c	UTSW	19	12,218,737 (GRCm39)	missense	probably benign	0.31
R5254:Or5an1c	UTSW	19	12,218,612 (GRCm39)	missense	probably damaging	1.00
R5726:Or5an1c	UTSW	19	12,218,644 (GRCm39)	missense	probably damaging	0.99
R6579:Or5an1c	UTSW	19	12,218,726 (GRCm39)	missense	probably benign
R7062:Or5an1c	UTSW	19	12,218,089 (GRCm39)	missense	probably benign
R7424:Or5an1c	UTSW	19	12,218,318 (GRCm39)	missense	possibly damaging	0.65
R9491:Or5an1c	UTSW	19	12,218,606 (GRCm39)	missense	probably benign	0.01
R9736:Or5an1c	UTSW	19	12,218,920 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGAGGAGCCACCAGAACTTGAAC -3'
(R):5'- GAGTGAGTCTTGTCTCATGGCAGC -3'

Sequencing Primer
(F):5'- TGAACTCAAATAGACAAAGATACTGG -3'
(R):5'- GTATGCATCGATTATGTCACCCAC -3'

Posted On

2013-05-09