Mutagenetix > Incidental Mutation

Incidental Mutation 'R5104:Or2n1c'

392597

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

042692-MU

Accession Numbers

Essential gene?

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

Stock #

R5104 (G1)

Quality Score

225

Status

Not 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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,158,121 (GRCm39)	F109L	probably damaging	Het
Ano4	T	A	10: 88,903,974 (GRCm39)	Q241L	possibly damaging	Het
Apof	C	T	10: 128,105,487 (GRCm39)	R214*	probably null	Het
Armh4	A	T	14: 50,010,929 (GRCm39)	D259E	possibly damaging	Het
Atl2	A	T	17: 80,160,046 (GRCm39)	S47T	probably benign	Het
Azgp1	T	G	5: 137,985,815 (GRCm39)	I146S	probably damaging	Het
Bicral	G	A	17: 47,112,182 (GRCm39)	T1006I	probably damaging	Het
Ccdc110	A	T	8: 46,395,729 (GRCm39)	N540I	probably damaging	Het
Ccdc77	T	C	6: 120,325,346 (GRCm39)		probably null	Het
Cxcr5	G	T	9: 44,424,616 (GRCm39)	P347Q	probably benign	Het
Cyp4a14	T	G	4: 115,353,126 (GRCm39)	H62P	probably damaging	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Ehd3	A	G	17: 74,134,442 (GRCm39)	N267S	probably benign	Het
Eno4	A	G	19: 58,933,973 (GRCm39)	Y58C	probably benign	Het
Fat2	A	G	11: 55,169,814 (GRCm39)	Y2982H	possibly damaging	Het
Frmd3	C	A	4: 74,063,315 (GRCm39)	A214D	probably damaging	Het
Gabrg1	A	C	5: 70,931,775 (GRCm39)	S323A	probably damaging	Het
Gbp9	T	C	5: 105,228,007 (GRCm39)	I592V	probably benign	Het
Gje1	G	A	10: 14,592,462 (GRCm39)	Q107*	probably null	Het
Gm29609	T	C	5: 31,311,638 (GRCm39)		probably null	Het
Gpam	A	T	19: 55,082,418 (GRCm39)	F78I	probably benign	Het
Hecw1	T	C	13: 14,515,377 (GRCm39)	R252G	probably damaging	Het
Hsd3b5	T	A	3: 98,526,592 (GRCm39)	S285C	probably damaging	Het
Ighv1-74	T	C	12: 115,766,507 (GRCm39)	K37E	possibly damaging	Het
Igkv8-34	T	C	6: 70,021,138 (GRCm39)	D108G	probably damaging	Het
Il6st	C	G	13: 112,625,182 (GRCm39)	T266S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kit	A	G	5: 75,776,138 (GRCm39)	T307A	probably benign	Het
Kmt2b	G	A	7: 30,269,265 (GRCm39)	R2552C	probably damaging	Het
Krt4	T	A	15: 101,828,758 (GRCm39)	R369W	probably damaging	Het
Larp4	T	A	15: 99,883,964 (GRCm39)	M8K	probably damaging	Het
Lrit3	T	A	3: 129,582,040 (GRCm39)	H528L	possibly damaging	Het
Mia3	A	G	1: 183,119,579 (GRCm39)	L157S	probably damaging	Het
Naa16	A	T	14: 79,622,140 (GRCm39)	Y32*	probably null	Het
Nbea	A	G	3: 55,987,348 (GRCm39)	Y381H	probably damaging	Het
Nelfcd	T	C	2: 174,268,159 (GRCm39)	V475A	probably benign	Het
Noxa1	T	C	2: 24,976,246 (GRCm39)	I347M	probably benign	Het
Or11h4b	T	A	14: 50,918,159 (GRCm39)	K311*	probably null	Het
Or2ag17	A	T	7: 106,389,539 (GRCm39)	F223Y	possibly damaging	Het
Or2y3	A	T	17: 38,393,174 (GRCm39)	S232T	possibly damaging	Het
Pabpc1l	T	A	2: 163,885,507 (GRCm39)	I420K	probably benign	Het
Pi4ka	C	T	16: 17,098,914 (GRCm39)	C1990Y	probably damaging	Het
Pkhd1	T	A	1: 20,655,415 (GRCm39)	Q223L	probably damaging	Het
Pkm	G	T	9: 59,575,964 (GRCm39)		probably null	Het
Proz	A	G	8: 13,116,931 (GRCm39)	D161G	probably damaging	Het
Ptprb	C	A	10: 116,158,364 (GRCm39)	H765Q	probably benign	Het
Relch	T	C	1: 105,658,965 (GRCm39)	V883A	probably benign	Het
Rffl	A	T	11: 82,703,619 (GRCm39)	C101*	probably null	Het
Rfx5	C	T	3: 94,862,451 (GRCm39)	T36I	probably benign	Het
Rnase12	C	A	14: 51,294,361 (GRCm39)	C106F	probably damaging	Het
Samd3	T	C	10: 26,139,686 (GRCm39)	S273P	possibly damaging	Het
Simc1	A	G	13: 54,674,175 (GRCm39)	D841G	probably benign	Het
Slc8a3	T	C	12: 81,260,908 (GRCm39)	E607G	probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Taf15	A	G	11: 83,378,222 (GRCm39)	Y154C	probably damaging	Het
Tgfb3	A	G	12: 86,105,756 (GRCm39)	V333A	possibly damaging	Het
Tiam1	A	G	16: 89,614,929 (GRCm39)	S2P	probably benign	Het
Tmed11	T	C	5: 108,925,142 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,170,257 (GRCm39)	D585G	probably damaging	Het
Trabd2b	T	C	4: 114,264,114 (GRCm39)	S34P	probably benign	Het
Trbv13-2	T	C	6: 41,098,745 (GRCm39)	Y107H	probably damaging	Het
Tuba3a	A	G	6: 125,259,347 (GRCm39)	V115A	probably benign	Het
Tut1	A	G	19: 8,936,698 (GRCm39)	E174G	probably benign	Het
Ubr3	T	A	2: 69,768,600 (GRCm39)	M469K	probably damaging	Het
Vcan	C	T	13: 89,805,591 (GRCm39)		probably benign	Het
Wapl	C	T	14: 34,414,016 (GRCm39)	Q293*	probably null	Het
Wdr24	A	G	17: 26,043,565 (GRCm39)	H129R	probably damaging	Het
Wrn	A	T	8: 33,757,895 (GRCm39)		probably null	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
R5095: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
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'- TAGAATGCCAACCCTGGATTC -3'
(R):5'- ACACCTCAAGTAGCTGATGGTC -3'

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

Posted On

2016-06-15