Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Or52n2c'

546996

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

045013-MU

Accession Numbers

Essential gene?

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

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104574013-104574969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104574717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 85 (C85S)

Ref Sequence

ENSEMBL: ENSMUSP00000150824 (fasta)

Gene Model

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

AlphaFold

Q8VGW3

Predicted Effect

probably benign
Transcript: ENSMUST00000164391
AA Change: C85S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130975
Gene: ENSMUSG00000057770
AA Change: C85S

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

probably benign
Transcript: ENSMUST00000215359
AA Change: C85S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000217177

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,835,897 (GRCm39)	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,178,104 (GRCm39)	V312A	probably damaging	Het
Bmp2	A	G	2: 133,403,604 (GRCm39)	D385G	probably damaging	Het
C1qtnf9	T	C	14: 61,017,241 (GRCm39)	V257A	probably damaging	Het
Cd3d	G	A	9: 44,896,991 (GRCm39)	V122I	probably damaging	Het
Cdc37	T	C	9: 21,053,519 (GRCm39)	E199G	probably damaging	Het
Crb2	T	A	2: 37,677,696 (GRCm39)	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,318,781 (GRCm39)	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,520,184 (GRCm39)	D472A	probably damaging	Het
Dab2	A	C	15: 6,451,732 (GRCm39)	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,275,969 (GRCm39)	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,584,909 (GRCm39)	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,184,040 (GRCm39)	V521G	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,196 (GRCm39)	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362 (GRCm39)	S101G	probably damaging	Het
Kif15	T	A	9: 122,840,679 (GRCm39)	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,936,158 (GRCm39)	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,104,909 (GRCm39)	*123R	probably null	Het
Map4k3	A	C	17: 80,988,344 (GRCm39)	V36G	probably damaging	Het
Mme	T	A	3: 63,276,344 (GRCm39)	I707N	probably damaging	Het
Muc2	A	G	7: 141,305,194 (GRCm39)	E166G	unknown	Het
Mucl1	T	A	15: 103,783,844 (GRCm39)	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,497,805 (GRCm39)	D53V	possibly damaging	Het
Naa15	T	A	3: 51,380,205 (GRCm39)	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,525,267 (GRCm39)	T1487A	probably benign	Het
Nme8	A	T	13: 19,878,498 (GRCm39)	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,444,374 (GRCm39)	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,881,974 (GRCm39)	F291Y	possibly damaging	Het
Ooep	T	C	9: 78,285,683 (GRCm39)	N43S	possibly damaging	Het
Or10ak13	T	C	4: 118,639,183 (GRCm39)	M200V	probably benign	Het
Or4e1	T	C	14: 52,700,932 (GRCm39)	D178G	possibly damaging	Het
Or52i2	A	T	7: 102,319,937 (GRCm39)	Q270L	probably benign	Het
Ovch2	A	T	7: 107,395,772 (GRCm39)	I82N	probably damaging	Het
Palb2	A	T	7: 121,713,622 (GRCm39)	M524K	possibly damaging	Het
Patj	T	C	4: 98,329,317 (GRCm39)	S524P	probably benign	Het
Patl1	T	A	19: 11,907,318 (GRCm39)	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,770 (GRCm39)	T99S	probably benign	Het
Plcb4	G	A	2: 135,774,182 (GRCm39)	A155T	probably benign	Het
Rpap3	A	G	15: 97,576,993 (GRCm39)	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spen	T	A	4: 141,221,693 (GRCm39)	T302S	unknown	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ube2o	T	C	11: 116,432,686 (GRCm39)	E760G	probably benign	Het
Uimc1	T	A	13: 55,223,267 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,277,817 (GRCm39)	A689V	probably damaging	Het
Vmn2r60	G	A	7: 41,791,666 (GRCm39)	A530T	probably benign	Het
Vps8	T	A	16: 21,393,772 (GRCm39)	M1185K	probably damaging	Het
Vwa8	T	C	14: 79,149,645 (GRCm39)	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,967,529 (GRCm39)	N175S	probably benign	Het
Zfp160	A	T	17: 21,246,794 (GRCm39)	H448L	probably damaging	Het
Zfp90	T	A	8: 107,151,641 (GRCm39)	C451*	probably null	Het
Zfp945	A	G	17: 23,071,264 (GRCm39)	C212R	probably damaging	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
R6492:Or52n2c	UTSW	7	104,574,852 (GRCm39)	missense	possibly damaging	0.60
R6933:Or52n2c	UTSW	7	104,574,330 (GRCm39)	missense	probably benign	0.21
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'- ACTCCTCAAGAATGTTGCAAGAC -3'
(R):5'- TGGGCTGGAAGATGCACATG -3'

Sequencing Primer
(F):5'- TGTTGCAAGACAAGCCTTGGC -3'
(R):5'- GAAGATGCACATGTCTGGATCTCTC -3'

Posted On

2019-05-13