Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Or4c52'

507872

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

044450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89845276-89846196 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89845393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 40 (I40L)

Ref Sequence

ENSEMBL: ENSMUSP00000150959 (fasta)

Gene Model

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

AlphaFold

Q8VG63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111507
AA Change: I40L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: I40L

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

possibly damaging
Transcript: ENSMUST00000214382
AA Change: I40L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000216616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216764

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217065
AA Change: I40L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Fxr1	G	A	3: 34,100,401 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,660,621 (GRCm39)		probably null	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Htt	T	A	5: 35,028,103 (GRCm39)	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,257,739 (GRCm39)	D26G	probably benign	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Picalm	A	G	7: 89,826,770 (GRCm39)	H290R	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Spint1	T	A	2: 119,075,759 (GRCm39)	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	probably benign	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
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
R7086:Or4c52	UTSW	2	89,845,594 (GRCm39)	missense	probably benign	0.07
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'- GAGACACCCTATGGTTTCTTTTCAG -3'
(R):5'- TAGGCCATGGCAATCAACAAG -3'

Sequencing Primer
(F):5'- TTTCAGATGACCATATGCACAGAGG -3'
(R):5'- GCCATGGCAATCAACAAGATGATTTC -3'

Posted On

2018-03-15