Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Or4c52'

238396

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

040199-MU

Accession Numbers

Essential gene?

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

Stock #

R2197 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89845276-89846196 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89845768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 165 (G165S)

Ref Sequence

ENSEMBL: ENSMUSP00000150959 (fasta)

Gene Model

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

AlphaFold

Q8VG63

Predicted Effect

probably damaging
Transcript: ENSMUST00000111507
AA Change: G165S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: G165S

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 damaging
Transcript: ENSMUST00000214382
AA Change: G165S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000216616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216764

Predicted Effect

probably damaging
Transcript: ENSMUST00000217065
AA Change: G165S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	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
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
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'- TCAATGGCTGCATGACTCAG -3'
(R):5'- TGATTTCTCAGGGAGCGAAG -3'

Sequencing Primer
(F):5'- GCTGCATGACTCAGCTTTTTG -3'
(R):5'- TTTCTCAGGGAGCGAAGAATGACC -3'

Posted On

2014-10-02