Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Or2n1c'

646419

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

067740-MU

Accession Numbers

Essential gene?

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

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38519138-38520076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38519189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 18 (A18T)

Ref Sequence

ENSEMBL: ENSMUSP00000150535 (fasta)

Gene Model

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

AlphaFold

Q8VEY4

Predicted Effect

probably benign
Transcript: ENSMUST00000076245
AA Change: A18T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000075595
Gene: ENSMUSG00000057801
AA Change: A18T

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

probably benign
Transcript: ENSMUST00000213217
AA Change: A18T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,945,473 (GRCm39)	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,151,145 (GRCm39)	M121T	probably damaging	Het
Birc2	A	G	9: 7,849,427 (GRCm39)	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,610,036 (GRCm39)	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,406,779 (GRCm39)	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,944,561 (GRCm39)	D866G	possibly damaging	Het
Cd40	G	A	2: 164,908,458 (GRCm39)	G178E	probably damaging	Het
Cers1	T	A	8: 70,782,223 (GRCm39)	L349H	probably benign	Het
Chd8	T	C	14: 52,470,275 (GRCm39)	K445R	probably benign	Het
Clca3a2	G	T	3: 144,513,114 (GRCm39)	S477*	probably null	Het
Clec4a1	T	A	6: 122,910,882 (GRCm39)	*246R	probably null	Het
CN725425	T	C	15: 91,124,973 (GRCm39)	I171T	probably benign	Het
Crybg3	A	G	16: 59,377,414 (GRCm39)	M1280T	probably benign	Het
Csf1r	A	T	18: 61,250,663 (GRCm39)	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,805,438 (GRCm39)	V193E	possibly damaging	Het
Cys1	A	G	12: 24,718,694 (GRCm39)	I53T	probably benign	Het
Dhrs3	A	C	4: 144,645,953 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,919 (GRCm39)	R229G	probably benign	Het
Dhx9	T	C	1: 153,331,961 (GRCm39)	N1336D	unknown	Het
Dmgdh	T	A	13: 93,845,238 (GRCm39)	H410Q	probably benign	Het
Dmxl1	T	A	18: 50,031,781 (GRCm39)	M2225K	probably benign	Het
Eif4g3	T	G	4: 137,824,156 (GRCm39)	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,561,384 (GRCm39)	I164F	possibly damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fhl4	G	A	10: 84,934,637 (GRCm39)	A48V	probably benign	Het
Fmn2	T	C	1: 174,437,173 (GRCm39)	L1048S	unknown	Het
Gemin5	T	C	11: 58,017,384 (GRCm39)	M1212V	probably benign	Het
Gm9195	C	T	14: 72,697,899 (GRCm39)	V1294I	probably benign	Het
Gpr55	A	T	1: 85,868,849 (GRCm39)	V244E	probably damaging	Het
Hgfac	T	A	5: 35,202,787 (GRCm39)	F429Y	probably damaging	Het
Jade2	T	A	11: 51,715,959 (GRCm39)	E415D	probably benign	Het
Kcnj4	T	A	15: 79,369,342 (GRCm39)	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Krt82	T	C	15: 101,453,546 (GRCm39)	E280G	probably benign	Het
Lemd1	C	A	1: 132,156,687 (GRCm39)	Q40K	probably damaging	Het
Lmo7	T	C	14: 102,124,444 (GRCm39)	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,726,268 (GRCm39)	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mroh8	A	T	2: 157,094,896 (GRCm39)	Y363*	probably null	Het
Or51a25	C	A	7: 102,372,790 (GRCm39)	K302N	probably damaging	Het
Or5p61	G	A	7: 107,758,435 (GRCm39)	T215I	probably benign	Het
Pcdha2	T	C	18: 37,073,316 (GRCm39)	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 37,102,920 (GRCm39)	C704*	probably null	Het
Pik3c2g	G	A	6: 139,881,782 (GRCm39)	V923M	unknown	Het
Rhd	A	G	4: 134,603,694 (GRCm39)	S72G	probably benign	Het
Rhot1	T	C	11: 80,134,292 (GRCm39)	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,268,458 (GRCm39)	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,320,806 (GRCm39)	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,884,135 (GRCm39)	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,008,469 (GRCm39)	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,502,541 (GRCm39)	D254V	probably damaging	Het
Srrm1	A	T	4: 135,052,532 (GRCm39)	I614N	unknown	Het
Stt3b	A	G	9: 115,095,243 (GRCm39)	Y263H	probably damaging	Het
Taf7	T	A	18: 37,776,552 (GRCm39)	K5I	probably damaging	Het
Tbck	C	A	3: 132,458,285 (GRCm39)	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,412,541 (GRCm39)	D37A	probably benign	Het
Trim71	C	A	9: 114,344,857 (GRCm39)	V354F	probably benign	Het
Tspoap1	T	G	11: 87,669,127 (GRCm39)	C1467G	probably benign	Het
Xirp1	C	T	9: 119,848,499 (GRCm39)	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,301,549 (GRCm39)	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168 (GRCm39)	T220A	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
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
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
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'- CCCATGACATTCCAAGTGTAGAATG -3'
(R):5'- TGGTCTTTGTAGAGCCCCAAAG -3'

Sequencing Primer
(F):5'- GTGTAGAATGCCAACCCTGGATTC -3'
(R):5'- AACATCTGAGGTACAATGCTTGTGG -3'

Posted On

2020-09-02