Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Or5an1c'

188031

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

039711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12218085-12219023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12218195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 277 (V277I)

Ref Sequence

ENSEMBL: ENSMUSP00000085120 (fasta)

Gene Model

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

AlphaFold

Q8VFV8

Predicted Effect

probably benign
Transcript: ENSMUST00000087818
AA Change: V277I

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: V277I

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: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,302,570 (GRCm39)		probably null	Het
Adam6b	T	C	12: 113,454,664 (GRCm39)	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 26,972,497 (GRCm39)		probably null	Het
Anapc2	G	A	2: 25,162,651 (GRCm39)	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,802,211 (GRCm39)	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,638,518 (GRCm39)	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,707,141 (GRCm39)	S279P	probably benign	Het
Atp10b	A	G	11: 43,116,475 (GRCm39)	T941A	probably damaging	Het
Barhl1	C	T	2: 28,805,423 (GRCm39)	R90Q	possibly damaging	Het
Calr3	T	C	8: 73,185,302 (GRCm39)	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,870,566 (GRCm39)	D317G	probably damaging	Het
Cnn3	C	T	3: 121,250,818 (GRCm39)	Q19*	probably null	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp4x1	T	C	4: 114,984,757 (GRCm39)	E41G	possibly damaging	Het
Dagla	T	A	19: 10,246,687 (GRCm39)	M138L	probably benign	Het
Dnah6	A	T	6: 73,106,523 (GRCm39)	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,165,686 (GRCm39)	S88T	probably benign	Het
Eno3	T	C	11: 70,549,492 (GRCm39)		probably null	Het
Erbb3	C	A	10: 128,407,073 (GRCm39)	S1029I	probably damaging	Het
Erbin	C	A	13: 103,977,686 (GRCm39)	V624L	probably damaging	Het
Fam170b	C	T	14: 32,557,359 (GRCm39)	Q65*	probably null	Het
Gin1	T	A	1: 97,713,780 (GRCm39)	L360*	probably null	Het
Gldc	A	T	19: 30,120,853 (GRCm39)	D359E	probably damaging	Het
Gpr107	A	T	2: 31,057,063 (GRCm39)	T52S	possibly damaging	Het
Hip1r	A	G	5: 124,132,883 (GRCm39)	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,268,631 (GRCm39)	L1004P	probably damaging	Het
Hspa1l	A	G	17: 35,196,419 (GRCm39)	N153D	probably damaging	Het
Itga8	C	A	2: 12,204,974 (GRCm39)	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,462,547 (GRCm39)	A134V	probably benign	Het
Kif18a	T	A	2: 109,128,748 (GRCm39)	C406S	probably benign	Het
Klhl28	A	T	12: 64,998,593 (GRCm39)	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,687,451 (GRCm39)	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,372,281 (GRCm39)	T222A	probably benign	Het
Lipn	G	A	19: 34,058,110 (GRCm39)	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,787,800 (GRCm39)	E144K	probably damaging	Het
Mal	T	C	2: 127,476,964 (GRCm39)	Y77C	probably benign	Het
Map1a	T	A	2: 121,133,136 (GRCm39)	C1079*	probably null	Het
Mbd5	T	A	2: 49,146,230 (GRCm39)	S147T	possibly damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or1ad8	T	C	11: 50,898,464 (GRCm39)	F222L	probably benign	Het
Or6p1	T	C	1: 174,258,663 (GRCm39)	V223A	probably benign	Het
Rcor2	C	T	19: 7,247,546 (GRCm39)	L45F	probably damaging	Het
Rpl12	T	A	2: 32,853,537 (GRCm39)	D107E	probably benign	Het
Rpl7l1	A	T	17: 47,089,117 (GRCm39)	F205I	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Sema4a	A	T	3: 88,362,073 (GRCm39)	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,557,048 (GRCm39)	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,579,790 (GRCm39)	D781G	probably damaging	Het
Tasor2	T	C	13: 3,619,507 (GRCm39)	I2241M	possibly damaging	Het
Tprn	T	G	2: 25,154,421 (GRCm39)	D574E	probably benign	Het
Trim75	T	A	8: 65,435,163 (GRCm39)	E429V	probably damaging	Het
Trit1	C	T	4: 122,948,029 (GRCm39)	R450C	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,546,332 (GRCm39)		probably null	Het
Usp49	C	A	17: 47,984,335 (GRCm39)	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,408,937 (GRCm39)	C88R	probably benign	Het
Zfp94	T	A	7: 24,002,259 (GRCm39)	K394N	probably damaging	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
R1453:Or5an1c	UTSW	19	12,218,956 (GRCm39)	missense	probably benign
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'- GCCATGAATTTTGTTACAGTCCAGCC -3'
(R):5'- AGTTCTGTCCTGCACAGACACTTTC -3'

Sequencing Primer
(F):5'- GTTACAGTCCAGCCATGTGC -3'
(R):5'- GTACAAGTCCTAACTGCCATATTAAC -3'

Posted On

2014-05-09