Mutagenetix > Incidental Mutation

Incidental Mutation 'R1820:Or5an1c'

204820

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

039848-MU

Accession Numbers

Essential gene?

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

Stock #

R1820 (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 12218612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 138 (S138T)

Ref Sequence

ENSEMBL: ENSMUSP00000085120 (fasta)

Gene Model

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

AlphaFold

Q8VFV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087818
AA Change: S138T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: S138T

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,197,018 (GRCm39)	V197A	possibly damaging	Het
9230109A22Rik	T	C	15: 25,139,176 (GRCm39)		noncoding transcript	Het
Acbd3	A	G	1: 180,572,703 (GRCm39)	N321S	probably benign	Het
Actr3b	T	C	5: 26,054,156 (GRCm39)		probably null	Het
Aldh5a1	T	C	13: 25,111,555 (GRCm39)	D124G	probably benign	Het
Arhgap35	G	A	7: 16,295,874 (GRCm39)	R1064W	possibly damaging	Het
Arhgef9	T	A	X: 94,125,142 (GRCm39)	I225F	probably damaging	Het
Arl16	T	C	11: 120,357,587 (GRCm39)	T43A	probably damaging	Het
Camsap3	T	C	8: 3,653,485 (GRCm39)	W409R	probably damaging	Het
Cfap43	T	A	19: 47,885,655 (GRCm39)	H320L	probably damaging	Het
Chac2	T	A	11: 30,927,496 (GRCm39)	N141I	probably damaging	Het
Chtf18	C	A	17: 25,944,913 (GRCm39)	G211C	probably damaging	Het
Cplane1	A	G	15: 8,299,129 (GRCm39)	K3106E	unknown	Het
Cwf19l1	T	A	19: 44,115,826 (GRCm39)	Y201F	probably benign	Het
Dcun1d1	A	T	3: 35,973,153 (GRCm39)	L114*	probably null	Het
Fdps	A	T	3: 89,002,350 (GRCm39)	H249Q	probably benign	Het
Fhip1a	T	A	3: 85,573,136 (GRCm39)	T938S	probably damaging	Het
Gabrg1	T	A	5: 70,931,756 (GRCm39)	Y329F	probably damaging	Het
Kctd8	T	A	5: 69,497,684 (GRCm39)	I321F	probably damaging	Het
Kdm5b	G	T	1: 134,525,408 (GRCm39)	R299L	possibly damaging	Het
Kif23	T	C	9: 61,833,720 (GRCm39)	T494A	possibly damaging	Het
Kmt2e	A	G	5: 23,678,545 (GRCm39)	H208R	probably damaging	Het
Lipo5	A	T	19: 33,441,995 (GRCm39)		probably null	Het
Lrrc28	G	T	7: 67,290,859 (GRCm39)	T54K	probably damaging	Het
Luc7l2	G	A	6: 38,575,754 (GRCm39)		probably null	Het
Man2a2	A	G	7: 80,008,681 (GRCm39)	F899L	probably benign	Het
Myo9b	T	C	8: 71,786,002 (GRCm39)	I633T	probably damaging	Het
Nynrin	A	T	14: 56,107,835 (GRCm39)	I981F	possibly damaging	Het
Or8g28	A	G	9: 39,169,695 (GRCm39)	I91T	possibly damaging	Het
Pank1	A	G	19: 34,855,084 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,637,336 (GRCm39)	A47V	probably damaging	Het
Plekhs1	A	G	19: 56,466,954 (GRCm39)	R262G	possibly damaging	Het
Pnp2	C	A	14: 51,201,914 (GRCm39)	P300Q	possibly damaging	Het
Polq	T	A	16: 36,849,780 (GRCm39)	S345T	possibly damaging	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Psmd5	T	C	2: 34,760,758 (GRCm39)		probably null	Het
Rfx6	T	G	10: 51,599,221 (GRCm39)		probably null	Het
Rhbdd2	G	A	5: 135,664,903 (GRCm39)	C78Y	probably damaging	Het
Rnf157	G	T	11: 116,245,477 (GRCm39)	P313T	probably damaging	Het
Ryr2	A	G	13: 11,602,202 (GRCm39)	L4560P	probably damaging	Het
Scai	A	T	2: 38,996,990 (GRCm39)	M268K	possibly damaging	Het
Scd3	A	T	19: 44,230,245 (GRCm39)	T343S	probably benign	Het
Scimp	A	T	11: 70,682,423 (GRCm39)	S98T	probably benign	Het
Sfrp2	A	G	3: 83,680,461 (GRCm39)	N207S	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Sp1	T	A	15: 102,317,511 (GRCm39)	S343R	possibly damaging	Het
Spata31d1a	A	T	13: 59,849,069 (GRCm39)	C1020S	possibly damaging	Het
Spink5	A	G	18: 44,122,486 (GRCm39)	N317S	possibly damaging	Het
Sptbn2	A	G	19: 4,776,624 (GRCm39)	D224G	probably damaging	Het
St8sia3	T	C	18: 64,402,703 (GRCm39)	I114T	probably damaging	Het
Zscan5b	C	A	7: 6,242,162 (GRCm39)	H460Q	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
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
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'- AGAAAGTGTCTGTGCAGGAC -3'
(R):5'- ACAACTCTCACCTGGAATCTGTC -3'

Sequencing Primer
(F):5'- GACAGAACTAACAACTGTGGCATGTC -3'
(R):5'- GCTATGTTACCAGTACAGTCCC -3'

Posted On

2014-06-23