Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Or5an1c'

452534

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

043344-MU

Accession Numbers

Essential gene?

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

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12218085-12219023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12218644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 127 (I127T)

Ref Sequence

ENSEMBL: ENSMUSP00000085120 (fasta)

Gene Model

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

AlphaFold

Q8VFV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087818
AA Change: I127T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: I127T

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

Meta Mutation Damage Score

0.1503

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,835,832 (GRCm39)	K254E	probably damaging	Het
Aak1	C	T	6: 86,902,106 (GRCm39)	Q92*	probably null	Het
Acss3	T	C	10: 106,959,183 (GRCm39)	T88A	possibly damaging	Het
Adcy4	A	T	14: 56,021,118 (GRCm39)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,348,170 (GRCm39)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,440,441 (GRCm39)	S402N	probably benign	Het
Btn1a1	T	A	13: 23,643,522 (GRCm39)	D309V	probably damaging	Het
Cdh23	C	T	10: 60,243,259 (GRCm39)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,529,285 (GRCm39)		probably benign	Het
Cln3	T	C	7: 126,174,673 (GRCm39)	T276A	probably null	Het
CN725425	A	G	15: 91,144,706 (GRCm39)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,597,829 (GRCm39)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,793,188 (GRCm39)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,862,342 (GRCm39)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,273,613 (GRCm39)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,635,828 (GRCm39)		probably null	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Fxr2	T	C	11: 69,524,172 (GRCm39)	V10A	probably benign	Het
Gm10271	T	C	10: 116,792,792 (GRCm39)		probably null	Het
Gsk3b	T	C	16: 38,028,498 (GRCm39)		probably benign	Het
Ift43	T	A	12: 86,208,957 (GRCm39)	D169E	probably damaging	Het
Ift57	T	A	16: 49,519,861 (GRCm39)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,860,294 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,339,491 (GRCm39)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,135,546 (GRCm39)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,401,362 (GRCm39)	G611C	probably damaging	Het
Mical1	A	G	10: 41,359,692 (GRCm39)		probably benign	Het
Myh14	A	G	7: 44,292,886 (GRCm39)		probably null	Het
Myh8	T	A	11: 67,185,392 (GRCm39)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,459,420 (GRCm39)	Q817K	probably benign	Het
Nin	A	C	12: 70,124,953 (GRCm39)	V123G	probably damaging	Het
Nup160	A	G	2: 90,548,195 (GRCm39)	D976G	probably damaging	Het
Nup210l	A	T	3: 90,036,514 (GRCm39)		probably null	Het
Phf14	T	C	6: 11,933,537 (GRCm39)		probably benign	Het
Podxl2	T	C	6: 88,825,721 (GRCm39)	D400G	probably damaging	Het
Pygl	C	T	12: 70,237,916 (GRCm39)	W707*	probably null	Het
Rnf19b	T	C	4: 128,965,685 (GRCm39)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,307,284 (GRCm39)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,742,626 (GRCm39)	L761P	probably damaging	Het
Shroom3	C	T	5: 93,090,864 (GRCm39)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,617,705 (GRCm39)	V317A	probably benign	Het
Skic3	T	C	13: 76,266,466 (GRCm39)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 58,029,426 (GRCm39)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Snap23	T	A	2: 120,414,752 (GRCm39)		probably benign	Het
Sra1	C	T	18: 36,803,226 (GRCm39)		probably benign	Het
Srbd1	C	T	17: 86,428,157 (GRCm39)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,464,826 (GRCm39)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,238,003 (GRCm39)	S205P	probably damaging	Het
Sv2b	T	C	7: 74,773,962 (GRCm39)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,103,479 (GRCm39)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,758,652 (GRCm39)	K482E	probably benign	Het
Tpm1	G	A	9: 66,930,694 (GRCm39)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,830,981 (GRCm39)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,742,757 (GRCm39)	L65*	probably null	Het
Ttc39c	C	A	18: 12,830,992 (GRCm39)	A284D	probably damaging	Het
Txndc16	G	A	14: 45,403,221 (GRCm39)	H297Y	probably benign	Het
Utrn	A	T	10: 12,545,550 (GRCm39)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,365,486 (GRCm39)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,208,315 (GRCm39)	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,276,119 (GRCm39)	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,568,269 (GRCm39)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,468,381 (GRCm39)	D2846E	probably benign	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
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
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'- TGGCATGTCACAAAAGAAGTGC -3'
(R):5'- CAACTCTCACCTGGAATCTGTC -3'

Sequencing Primer
(F):5'- GTGCTTGATGACATTAGTTCCAC -3'
(R):5'- GTGCAACCTTTCCATCATAGATC -3'

Posted On

2017-01-03