Mutagenetix > Incidental Mutation

Incidental Mutation 'R1453:Or5an1c'

161643

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

039508-MU

Accession Numbers

Essential gene?

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

Stock #

R1453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12218085-12219023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12218956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 23 (I23K)

Ref Sequence

ENSEMBL: ENSMUSP00000085120 (fasta)

Gene Model

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

AlphaFold

Q8VFV8

Predicted Effect

probably benign
Transcript: ENSMUST00000087818
AA Change: I23K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: I23K

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,763 (GRCm39)	I240M	probably benign	Het
Abcd3	A	T	3: 121,558,710 (GRCm39)	D595E	probably damaging	Het
Akap9	A	G	5: 4,025,614 (GRCm39)		probably null	Het
Arpc1b	A	G	5: 145,062,555 (GRCm39)	D223G	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,866 (GRCm39)	T104S	probably benign	Het
BC005537	T	C	13: 24,989,969 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,587,903 (GRCm39)	D477G	possibly damaging	Het
Chrdl2	T	C	7: 99,666,197 (GRCm39)	V39A	possibly damaging	Het
Clmp	C	G	9: 40,693,737 (GRCm39)	S318W	probably damaging	Het
Cmas	T	C	6: 142,717,853 (GRCm39)	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,079,132 (GRCm39)	T80A	probably benign	Het
Ddx25	T	C	9: 35,453,298 (GRCm39)	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,073,075 (GRCm39)	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,990,316 (GRCm39)	V252I	probably benign	Het
Dnah2	T	C	11: 69,341,876 (GRCm39)	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,370,480 (GRCm39)		probably null	Het
Dppa4	G	A	16: 48,111,596 (GRCm39)	A194T	probably damaging	Het
Dst	T	C	1: 34,228,527 (GRCm39)	V2218A	possibly damaging	Het
Dytn	G	C	1: 63,673,032 (GRCm39)	S457C	probably damaging	Het
Fndc3a	G	A	14: 72,777,768 (GRCm39)	Q1101*	probably null	Het
Focad	A	T	4: 88,275,679 (GRCm39)		probably null	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gm5093	A	G	17: 46,750,622 (GRCm39)	F135S	probably benign	Het
Gmeb1	A	T	4: 131,969,759 (GRCm39)	D71E	possibly damaging	Het
Heatr5b	G	A	17: 79,124,992 (GRCm39)	R587C	probably damaging	Het
Jakmip2	T	C	18: 43,692,279 (GRCm39)		probably null	Het
Mier3	T	A	13: 111,841,778 (GRCm39)	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,318,779 (GRCm39)	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,741,901 (GRCm39)	K677R	probably benign	Het
Nhsl1	T	C	10: 18,407,323 (GRCm39)	S1486P	probably damaging	Het
Nup133	A	G	8: 124,642,114 (GRCm39)	I783T	probably benign	Het
Or10d4c	A	T	9: 39,558,459 (GRCm39)	T146S	probably benign	Het
Pigr	A	T	1: 130,769,281 (GRCm39)	I31L	probably benign	Het
Plaat5	A	G	19: 7,616,999 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel6	T	A	2: 87,338,917 (GRCm39)	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,530,553 (GRCm39)		probably null	Het
Rinl	T	C	7: 28,496,329 (GRCm39)	C437R	probably damaging	Het
Shank1	T	C	7: 43,965,499 (GRCm39)	S192P	unknown	Het
Slc2a10	A	T	2: 165,359,570 (GRCm39)	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,343,877 (GRCm39)	L12H	probably damaging	Het
Slit2	T	A	5: 48,414,393 (GRCm39)	C970S	possibly damaging	Het
Stard9	T	C	2: 120,496,857 (GRCm39)	S119P	probably damaging	Het
Stim2	C	A	5: 54,273,451 (GRCm39)	D568E	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf3	A	G	12: 111,221,757 (GRCm39)	E306G	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll6	T	C	11: 96,049,714 (GRCm39)	S811P	possibly damaging	Het
Ubr7	A	G	12: 102,735,437 (GRCm39)	K299E	probably benign	Het
Urb1	C	A	16: 90,593,380 (GRCm39)	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,590 (GRCm39)	E183D	probably damaging	Het
Zfp35	T	G	18: 24,136,557 (GRCm39)	Y300*	probably null	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp938	C	T	10: 82,063,632 (GRCm39)		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
R0365:Or5an1c	UTSW	19	12,218,440 (GRCm39)	missense	probably benign	0.13
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
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'- CAGCCCACAAAACTGTTAGTTTGCC -3'
(R):5'- TTCAGCGGTCCTAGAAGAAGGACA -3'

Sequencing Primer
(F):5'- CCTTTCCTGGAAAAAGTTTGAGAGC -3'
(R):5'- GGACATATGGTGTGAAAATTGTAATG -3'

Posted On

2014-03-14