Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:Or4c52'

549879

Institutional Source

Beutler Lab

Gene Symbol

Or4c52

Ensembl Gene

ENSMUSG00000059112

Gene Name

olfactory receptor family 4 subfamily C member 52

Synonyms

GA_x6K02T2Q125-51447049-51447969, Olfr1263, MOR234-2

MMRRC Submission

045180-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89845276-89846196 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89845594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 107 (I107V)

Ref Sequence

ENSEMBL: ENSMUSP00000149887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]

AlphaFold

Q8VG63

Predicted Effect

probably benign
Transcript: ENSMUST00000111507
AA Change: I107V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: I107V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	25	299	7.6e-42	PFAM
Pfam:7TM_GPCR_Srsx	30	297	1.7e-5	PFAM
Pfam:7tm_1	36	282	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214382
AA Change: I107V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000216616

Predicted Effect

probably benign
Transcript: ENSMUST00000217065
AA Change: I107V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

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
Adam30	A	G	3: 98,068,635 (GRCm39)	H28R	probably damaging	Het
Adgre4	T	C	17: 56,127,649 (GRCm39)	I563T	probably benign	Het
Ankub1	A	T	3: 57,597,746 (GRCm39)	C75S	probably damaging	Het
Antxrl	G	A	14: 33,787,873 (GRCm39)	V299I	probably benign	Het
Arfgef2	T	A	2: 166,718,536 (GRCm39)	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,169,881 (GRCm39)	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,554,414 (GRCm39)	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cfap91	A	T	16: 38,127,219 (GRCm39)	F512L	possibly damaging	Het
Chrng	C	A	1: 87,138,735 (GRCm39)	R455S	probably benign	Het
Cimap1a	A	G	7: 140,429,402 (GRCm39)	H151R	probably benign	Het
Cluh	T	A	11: 74,558,166 (GRCm39)	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 129,946,773 (GRCm39)		probably null	Het
Cpne5	G	A	17: 29,378,051 (GRCm39)	P576L	unknown	Het
Crocc	C	A	4: 140,774,368 (GRCm39)	V144L	possibly damaging	Het
Cubn	A	G	2: 13,324,669 (GRCm39)	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,744,355 (GRCm39)	F326L	probably benign	Het
Dclk1	G	A	3: 55,395,333 (GRCm39)		probably null	Het
Dennd2b	A	G	7: 109,124,781 (GRCm39)	I1083T	probably damaging	Het
Dnah7c	A	G	1: 46,789,285 (GRCm39)	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,357,739 (GRCm39)	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,896,103 (GRCm39)	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,831,386 (GRCm39)	V829I	probably benign	Het
Gtse1	A	G	15: 85,759,750 (GRCm39)	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,658,461 (GRCm39)	V33E	probably damaging	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,584,629 (GRCm39)	P175T	probably damaging	Het
Klhl10	T	C	11: 100,347,768 (GRCm39)	V608A	probably benign	Het
Klhl2	A	G	8: 65,275,664 (GRCm39)	Y80H	probably damaging	Het
Lnx2	A	T	5: 146,956,988 (GRCm39)		probably null	Het
Lst1	G	A	17: 35,404,262 (GRCm39)	H59Y	probably damaging	Het
Mphosph8	G	C	14: 56,905,980 (GRCm39)	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,316,457 (GRCm39)	S45R	possibly damaging	Het
Myh8	A	G	11: 67,183,453 (GRCm39)		probably null	Het
Or12j4	A	G	7: 140,046,341 (GRCm39)	T76A	possibly damaging	Het
Phox2a	A	G	7: 101,467,718 (GRCm39)	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,704,317 (GRCm39)	S540P	probably damaging	Het
Plcb4	A	G	2: 135,849,767 (GRCm39)	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,667,297 (GRCm39)	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,225,186 (GRCm39)	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,368,109 (GRCm39)	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,570,409 (GRCm39)	V668A	probably damaging	Het
Rapgef2	A	G	3: 78,993,353 (GRCm39)	S712P	probably benign	Het
Rcc2	T	C	4: 140,435,280 (GRCm39)	C100R	probably benign	Het
Recql4	C	A	15: 76,589,753 (GRCm39)	G764V	unknown	Het
Rlbp1	A	G	7: 79,029,813 (GRCm39)	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,667,794 (GRCm39)	T261A	probably benign	Het
Sgtb	T	C	13: 104,254,924 (GRCm39)	S65P	possibly damaging	Het
Spag9	T	C	11: 93,988,690 (GRCm39)	V920A	probably benign	Het
Spata31	T	A	13: 65,070,043 (GRCm39)	S730R	probably benign	Het
Spta1	C	T	1: 174,027,050 (GRCm39)	A841V	probably damaging	Het
Tnfaip1	T	C	11: 78,416,265 (GRCm39)	S273G	probably benign	Het
Vezf1	T	C	11: 87,969,364 (GRCm39)	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,181,044 (GRCm39)	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,333,178 (GRCm39)	T24K	probably benign	Het
Wdr43	G	A	17: 71,923,434 (GRCm39)	G60D	probably benign	Het
Xkr4	G	A	1: 3,287,185 (GRCm39)	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,791,873 (GRCm39)	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,741,056 (GRCm39)	K403R	probably damaging	Het

Other mutations in Or4c52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Or4c52	APN	2	89,846,063 (GRCm39)	missense	probably damaging	1.00
IGL01512:Or4c52	APN	2	89,845,636 (GRCm39)	missense	probably damaging	1.00
IGL01722:Or4c52	APN	2	89,845,351 (GRCm39)	missense	probably benign	0.39
IGL01787:Or4c52	APN	2	89,845,655 (GRCm39)	missense	probably damaging	1.00
IGL02376:Or4c52	APN	2	89,845,804 (GRCm39)	missense	probably benign	0.00
IGL03408:Or4c52	APN	2	89,845,915 (GRCm39)	missense	probably benign	0.35
R0367:Or4c52	UTSW	2	89,846,116 (GRCm39)	missense	probably damaging	0.99
R0765:Or4c52	UTSW	2	89,846,014 (GRCm39)	missense	probably benign	0.01
R1158:Or4c52	UTSW	2	89,845,598 (GRCm39)	missense	possibly damaging	0.94
R1705:Or4c52	UTSW	2	89,845,855 (GRCm39)	missense	possibly damaging	0.90
R1794:Or4c52	UTSW	2	89,845,364 (GRCm39)	missense	probably damaging	1.00
R2197:Or4c52	UTSW	2	89,845,768 (GRCm39)	missense	probably damaging	1.00
R2347:Or4c52	UTSW	2	89,845,958 (GRCm39)	missense	possibly damaging	0.82
R2442:Or4c52	UTSW	2	89,845,685 (GRCm39)	missense	probably benign
R3160:Or4c52	UTSW	2	89,845,365 (GRCm39)	nonsense	probably null
R3162:Or4c52	UTSW	2	89,845,365 (GRCm39)	nonsense	probably null
R4298:Or4c52	UTSW	2	89,845,993 (GRCm39)	missense	probably benign	0.13
R4898:Or4c52	UTSW	2	89,845,762 (GRCm39)	missense	probably damaging	1.00
R5340:Or4c52	UTSW	2	89,845,706 (GRCm39)	missense	probably benign
R6280:Or4c52	UTSW	2	89,845,393 (GRCm39)	missense	possibly damaging	0.62
R6367:Or4c52	UTSW	2	89,845,360 (GRCm39)	missense	probably benign	0.00
R6556:Or4c52	UTSW	2	89,845,438 (GRCm39)	missense	probably damaging	1.00
R7502:Or4c52	UTSW	2	89,845,355 (GRCm39)	missense	probably benign	0.15
R7585:Or4c52	UTSW	2	89,845,393 (GRCm39)	missense	probably damaging	0.99
R7963:Or4c52	UTSW	2	89,846,003 (GRCm39)	missense	possibly damaging	0.73
R8062:Or4c52	UTSW	2	89,846,080 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CACCATTTTCATCAGCCCAG -3'
(R):5'- CAGAGTGTGAGTGTCAGTGC -3'

Sequencing Primer
(F):5'- TCATCAGCCCAGCCCTG -3'
(R):5'- GCCAACTCCAGGAGTGGTATTAAATC -3'

Posted On

2019-05-15