Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Or52n2c'

522974

Institutional Source

Beutler Lab

Gene Symbol

Or52n2c

Ensembl Gene

ENSMUSG00000057770

Gene Name

olfactory receptor family 52 subfamily N member 2C

Synonyms

Olfr668, GA_x6K02T2PBJ9-7554614-7553658, MOR34-3

MMRRC Submission

044624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R6492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104574013-104574969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104574852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 40 (A40S)

Ref Sequence

ENSEMBL: ENSMUSP00000150824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164391] [ENSMUST00000215359] [ENSMUST00000217177]

AlphaFold

Q8VGW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164391
AA Change: A40S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130975
Gene: ENSMUSG00000057770
AA Change: A40S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	7.2e-103	PFAM
Pfam:7TM_GPCR_Srsx	37	210	4.7e-10	PFAM
Pfam:7tm_1	43	295	4.6e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215359
AA Change: A40S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000217177

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	probably benign	Het

Other mutations in Or52n2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01664:Or52n2c	APN	7	104,574,311 (GRCm39)	missense	probably damaging	1.00
IGL02250:Or52n2c	APN	7	104,574,222 (GRCm39)	missense	probably damaging	1.00
IGL02743:Or52n2c	APN	7	104,574,075 (GRCm39)	missense	probably damaging	0.98
IGL03105:Or52n2c	APN	7	104,574,971 (GRCm39)	unclassified	probably benign
IGL03252:Or52n2c	APN	7	104,574,594 (GRCm39)	missense	probably benign	0.16
IGL03387:Or52n2c	APN	7	104,574,580 (GRCm39)	missense	probably benign	0.01
R1534:Or52n2c	UTSW	7	104,574,621 (GRCm39)	missense	possibly damaging	0.95
R2509:Or52n2c	UTSW	7	104,574,894 (GRCm39)	missense	probably benign	0.40
R2510:Or52n2c	UTSW	7	104,574,894 (GRCm39)	missense	probably benign	0.40
R4739:Or52n2c	UTSW	7	104,574,017 (GRCm39)	missense	possibly damaging	0.91
R4995:Or52n2c	UTSW	7	104,574,942 (GRCm39)	missense	probably benign	0.01
R5071:Or52n2c	UTSW	7	104,574,700 (GRCm39)	missense	probably benign
R5074:Or52n2c	UTSW	7	104,574,700 (GRCm39)	missense	probably benign
R5208:Or52n2c	UTSW	7	104,574,933 (GRCm39)	missense	probably benign
R5293:Or52n2c	UTSW	7	104,574,486 (GRCm39)	missense	probably benign	0.00
R6061:Or52n2c	UTSW	7	104,574,599 (GRCm39)	missense	probably benign	0.28
R6063:Or52n2c	UTSW	7	104,574,599 (GRCm39)	missense	probably benign	0.28
R6064:Or52n2c	UTSW	7	104,574,599 (GRCm39)	missense	probably benign	0.28
R6172:Or52n2c	UTSW	7	104,574,503 (GRCm39)	missense	probably benign	0.40
R6933:Or52n2c	UTSW	7	104,574,330 (GRCm39)	missense	probably benign	0.21
R7040:Or52n2c	UTSW	7	104,574,717 (GRCm39)	missense	probably benign	0.02
R7587:Or52n2c	UTSW	7	104,574,263 (GRCm39)	missense	probably benign	0.28
R7841:Or52n2c	UTSW	7	104,574,066 (GRCm39)	missense	possibly damaging	0.59
R7869:Or52n2c	UTSW	7	104,574,311 (GRCm39)	missense	probably damaging	1.00
R7902:Or52n2c	UTSW	7	104,574,557 (GRCm39)	missense	probably damaging	1.00
R8296:Or52n2c	UTSW	7	104,574,828 (GRCm39)	missense	probably benign	0.00
R8670:Or52n2c	UTSW	7	104,574,419 (GRCm39)	missense	probably damaging	0.98
R8680:Or52n2c	UTSW	7	104,574,620 (GRCm39)	missense	probably damaging	1.00
R8695:Or52n2c	UTSW	7	104,574,146 (GRCm39)	missense	probably benign	0.30
R9158:Or52n2c	UTSW	7	104,574,086 (GRCm39)	missense	probably damaging	1.00
R9261:Or52n2c	UTSW	7	104,574,305 (GRCm39)	missense	probably benign	0.04
R9681:Or52n2c	UTSW	7	104,574,075 (GRCm39)	missense	probably damaging	0.98
Z1177:Or52n2c	UTSW	7	104,574,200 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAGCATGAGCACACCAG -3'
(R):5'- CCTGTTCTAGGTCACTGACATTATTAC -3'

Sequencing Primer
(F):5'- TTTGGGCAAGGCAGGAATTAAATCC -3'
(R):5'- TCCTGAATGGTGTTCCTG -3'

Posted On

2018-06-06