Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Or2n1c'

395850

Institutional Source

Beutler Lab

Gene Symbol

Or2n1c

Ensembl Gene

ENSMUSG00000057801

Gene Name

olfactory receptor family 2 subfamily N member 1C

Synonyms

MOR256-48, GA_x6K02T2PSCP-2656648-2657586, Olfr135

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38519138-38520076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38519208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 24 (E24A)

Ref Sequence

ENSEMBL: ENSMUSP00000150535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076245] [ENSMUST00000213217]

AlphaFold

Q8VEY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076245
AA Change: E24A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075595
Gene: ENSMUSG00000057801
AA Change: E24A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.6e-50	PFAM
Pfam:7tm_1	41	290	9.2e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213217
AA Change: E24A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,301,492 (GRCm39)		noncoding transcript	Het
Adgrv1	C	T	13: 81,243,606 (GRCm39)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,369,881 (GRCm39)	G660D	probably damaging	Het
Arap2	A	G	5: 62,811,392 (GRCm39)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,657 (GRCm39)		probably null	Het
C1rb	A	T	6: 124,557,272 (GRCm39)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,691,564 (GRCm39)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,882,391 (GRCm39)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,708,547 (GRCm39)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Flt4	T	A	11: 49,517,986 (GRCm39)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,379,402 (GRCm39)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,532,473 (GRCm39)	N550T	probably benign	Het
Hcn3	C	A	3: 89,057,230 (GRCm39)	R456L	probably damaging	Het
Htt	T	C	5: 34,981,739 (GRCm39)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,698,146 (GRCm39)	D203G	probably damaging	Het
Itga10	G	T	3: 96,555,480 (GRCm39)	V145L	probably benign	Het
Kcnh6	A	G	11: 105,908,080 (GRCm39)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,820,497 (GRCm39)	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,159 (GRCm39)	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,001 (GRCm39)	D418V	probably damaging	Het
Myo5a	A	G	9: 75,059,302 (GRCm39)	D510G	probably damaging	Het
Myo5a	A	T	9: 75,091,671 (GRCm39)	K1179*	probably null	Het
Neto1	T	C	18: 86,416,406 (GRCm39)	S38P	probably benign	Het
Nos3	A	G	5: 24,573,916 (GRCm39)		probably benign	Het
Nuggc	C	T	14: 65,872,539 (GRCm39)	R512*	probably null	Het
Oas1e	T	A	5: 120,932,329 (GRCm39)	K105*	probably null	Het
Omd	T	A	13: 49,743,174 (GRCm39)	S75T	possibly damaging	Het
Or10a3m	T	C	7: 108,313,019 (GRCm39)	F141S	probably damaging	Het
Pbrm1	A	G	14: 30,754,487 (GRCm39)	N190S	probably benign	Het
Picalm	T	C	7: 89,819,841 (GRCm39)	F85L	probably damaging	Het
Polg	A	G	7: 79,110,048 (GRCm39)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,423,841 (GRCm39)	D1017G	probably damaging	Het
Prss56	G	C	1: 87,115,833 (GRCm39)	R569P	probably damaging	Het
Rab6b	G	A	9: 103,017,583 (GRCm39)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,201,609 (GRCm39)	T332A	probably benign	Het
Rheb	A	T	5: 25,012,639 (GRCm39)	M115K	probably benign	Het
Rnf149	A	T	1: 39,594,737 (GRCm39)	D321E	probably benign	Het
Rps28	C	T	17: 34,042,177 (GRCm39)		probably null	Het
Slc6a20b	A	G	9: 123,424,119 (GRCm39)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,305,169 (GRCm39)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spata31h1	G	T	10: 82,119,501 (GRCm39)	A4503E	probably damaging	Het
Srp68	C	T	11: 116,139,573 (GRCm39)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,439,801 (GRCm39)	V346I	probably benign	Het
Syne2	A	G	12: 75,999,600 (GRCm39)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,564,536 (GRCm39)	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,682,707 (GRCm39)	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,436,317 (GRCm39)		probably null	Het
Vmn2r72	T	A	7: 85,387,061 (GRCm39)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,348 (GRCm39)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,393,061 (GRCm39)		probably benign	Het

Other mutations in Or2n1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Or2n1c	APN	17	38,519,873 (GRCm39)	missense	probably damaging	0.99
IGL01316:Or2n1c	APN	17	38,519,388 (GRCm39)	missense	probably damaging	0.98
IGL01666:Or2n1c	APN	17	38,519,780 (GRCm39)	missense	probably benign	0.11
IGL02096:Or2n1c	APN	17	38,520,074 (GRCm39)	makesense	probably null
R0255:Or2n1c	UTSW	17	38,519,286 (GRCm39)	missense	probably benign
R0630:Or2n1c	UTSW	17	38,519,304 (GRCm39)	missense	probably damaging	0.97
R1185:Or2n1c	UTSW	17	38,520,074 (GRCm39)	makesense	probably null
R1185:Or2n1c	UTSW	17	38,520,074 (GRCm39)	makesense	probably null
R1185:Or2n1c	UTSW	17	38,520,074 (GRCm39)	makesense	probably null
R1279:Or2n1c	UTSW	17	38,519,678 (GRCm39)	missense	probably benign	0.01
R1878:Or2n1c	UTSW	17	38,519,265 (GRCm39)	missense	probably benign	0.03
R1969:Or2n1c	UTSW	17	38,519,355 (GRCm39)	missense	probably damaging	1.00
R2374:Or2n1c	UTSW	17	38,519,958 (GRCm39)	missense	probably damaging	0.97
R3708:Or2n1c	UTSW	17	38,519,174 (GRCm39)	missense	probably benign	0.01
R5025:Or2n1c	UTSW	17	38,519,334 (GRCm39)	missense	probably damaging	1.00
R5093:Or2n1c	UTSW	17	38,519,208 (GRCm39)	missense	possibly damaging	0.92
R5103:Or2n1c	UTSW	17	38,519,208 (GRCm39)	missense	possibly damaging	0.92
R5104:Or2n1c	UTSW	17	38,519,208 (GRCm39)	missense	possibly damaging	0.92
R5105:Or2n1c	UTSW	17	38,519,208 (GRCm39)	missense	possibly damaging	0.92
R5149:Or2n1c	UTSW	17	38,519,208 (GRCm39)	missense	possibly damaging	0.92
R5150:Or2n1c	UTSW	17	38,519,208 (GRCm39)	missense	possibly damaging	0.92
R5344:Or2n1c	UTSW	17	38,519,995 (GRCm39)	missense	probably damaging	1.00
R6608:Or2n1c	UTSW	17	38,519,370 (GRCm39)	missense	probably damaging	1.00
R7300:Or2n1c	UTSW	17	38,519,588 (GRCm39)	missense	possibly damaging	0.76
R7324:Or2n1c	UTSW	17	38,519,607 (GRCm39)	missense	probably benign
R7580:Or2n1c	UTSW	17	38,519,934 (GRCm39)	missense	probably benign	0.11
R8062:Or2n1c	UTSW	17	38,520,065 (GRCm39)	missense	probably benign	0.01
R8371:Or2n1c	UTSW	17	38,519,189 (GRCm39)	missense	probably benign	0.01
R8984:Or2n1c	UTSW	17	38,519,304 (GRCm39)	missense	probably damaging	0.97
R9002:Or2n1c	UTSW	17	38,519,555 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAATGCCAACCCTGGATTC -3'
(R):5'- CACACCTCAAGTAGCTGATGGTC -3'

Sequencing Primer
(F):5'- GAATGCCAACCCTGGATTCTATAG -3'
(R):5'- TCTTTGTAGAGCCCCAAAGG -3'

Posted On

2016-06-21