Mutagenetix > Incidental Mutation

Incidental Mutation 'R6273:Or4k52'

507436

Institutional Source

Beutler Lab

Gene Symbol

Or4k52

Ensembl Gene

ENSMUSG00000044560

Gene Name

olfactory receptor family 4 subfamily K member 52

Synonyms

Olfr1302, GA_x6K02T2Q125-72831562-72832500, MOR248-3

MMRRC Submission

044443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111777429-111782700 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111781222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 301 (F301L)

Ref Sequence

ENSEMBL: ENSMUSP00000150896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054004] [ENSMUST00000214708] [ENSMUST00000215244]

AlphaFold

Q8VGE9

Predicted Effect

probably benign
Transcript: ENSMUST00000054004
AA Change: F304L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: F304L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	2.4e-49	PFAM
Pfam:7tm_1	44	290	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214708
AA Change: F301L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215244
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (78/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,218 (GRCm38)	I99N	probably damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Ankrd31	A	G	13: 96,851,673 (GRCm38)	I1065V	possibly damaging	Het
Aox1	A	G	1: 58,339,672 (GRCm38)	T1027A	probably benign	Het
Atm	G	A	9: 53,487,922 (GRCm38)	P1593L	probably benign	Het
Atp13a5	T	G	16: 29,348,737 (GRCm38)	I132L	probably benign	Het
BC035044	A	G	6: 128,890,889 (GRCm38)		probably benign	Het
Cadm3	CT	C	1: 173,349,124 (GRCm38)		probably benign	Homo
Car3	C	T	3: 14,871,617 (GRCm38)	P247S	probably benign	Het
Ccdc7a	T	C	8: 128,787,338 (GRCm38)	Y160C	probably damaging	Het
Cd1d1	A	G	3: 86,998,257 (GRCm38)	V143A	probably benign	Het
Cemip2	T	A	19: 21,802,005 (GRCm38)	V393E	probably damaging	Het
Cog6	A	T	3: 52,996,052 (GRCm38)	F142I	probably damaging	Het
Cracd	A	T	5: 76,857,721 (GRCm38)	D643V	unknown	Het
Crhr1	T	G	11: 104,163,856 (GRCm38)	N98K	possibly damaging	Het
Csf1	A	G	3: 107,749,163 (GRCm38)	V72A	probably damaging	Het
Cwc15	T	A	9: 14,510,241 (GRCm38)	I201K	probably benign	Het
Dgka	T	C	10: 128,723,646 (GRCm38)	K482R	probably benign	Het
Dnah7b	T	C	1: 46,242,316 (GRCm38)	S2846P	possibly damaging	Het
Dst	T	A	1: 34,275,266 (GRCm38)	I4199N	probably damaging	Het
Dusp7	A	G	9: 106,373,896 (GRCm38)	T407A	possibly damaging	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Fem1a	T	C	17: 56,257,083 (GRCm38)	Y59H	possibly damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Filip1	A	T	9: 79,815,886 (GRCm38)	D1150E	probably benign	Het
Gabra1	A	G	11: 42,140,311 (GRCm38)	V264A	probably damaging	Het
Gm4131	T	C	14: 62,464,850 (GRCm38)	E223G	probably damaging	Het
Gon4l	T	C	3: 88,855,849 (GRCm38)	V333A	probably damaging	Het
Gsk3b	A	G	16: 38,208,046 (GRCm38)	T289A	probably benign	Het
Hmcn2	T	C	2: 31,411,834 (GRCm38)	S2912P	probably damaging	Het
Htr7	A	T	19: 36,041,569 (GRCm38)		probably benign	Het
Ibsp	A	G	5: 104,310,301 (GRCm38)	T235A	probably benign	Het
Ints13	A	T	6: 146,565,681 (GRCm38)	D116E	probably damaging	Het
Irag1	G	T	7: 110,871,583 (GRCm38)	H848N	probably benign	Het
Kctd19	T	C	8: 105,385,485 (GRCm38)	N753S	probably benign	Het
Mdn1	A	G	4: 32,715,979 (GRCm38)	N2054D	probably benign	Het
Mink1	A	T	11: 70,611,435 (GRCm38)	K880*	probably null	Het
Myo15b	T	A	11: 115,862,799 (GRCm38)	L824Q	possibly damaging	Het
Napepld	T	C	5: 21,665,322 (GRCm38)	E366G	probably benign	Het
Obscn	T	A	11: 59,076,993 (GRCm38)	T2662S	possibly damaging	Het
Or2g7	T	G	17: 38,067,795 (GRCm38)	L208R	probably damaging	Het
Or2n1b	T	A	17: 38,148,942 (GRCm38)	M118K	possibly damaging	Het
Or52p1	A	G	7: 104,617,895 (GRCm38)	D72G	probably damaging	Het
Or5b12	A	G	19: 12,919,400 (GRCm38)	V303A	probably benign	Het
Or6d13	A	G	6: 116,541,316 (GRCm38)	T288A	possibly damaging	Het
Pah	T	C	10: 87,576,215 (GRCm38)		probably null	Het
Panx3	T	G	9: 37,667,429 (GRCm38)	I85L	probably benign	Het
Pate4	T	C	9: 35,607,790 (GRCm38)	N94D	probably benign	Het
Pde4d	A	G	13: 109,950,221 (GRCm38)	M610V	possibly damaging	Het
Pik3c2b	T	C	1: 133,066,711 (GRCm38)	S138P	probably benign	Het
Pkn1	T	C	8: 83,672,270 (GRCm38)	N696S	probably damaging	Het
Plppr2	A	G	9: 21,944,505 (GRCm38)	E258G	probably damaging	Het
Plxnd1	A	T	6: 115,978,492 (GRCm38)	M538K	probably damaging	Het
Prepl	G	T	17: 85,083,268 (GRCm38)	N87K	probably benign	Het
Prkag2	C	A	5: 24,947,536 (GRCm38)	R190L	probably damaging	Het
Rara	A	G	11: 98,970,222 (GRCm38)	T179A	probably benign	Het
Rfx7	A	G	9: 72,616,997 (GRCm38)	K490E	possibly damaging	Het
Rgsl1	C	T	1: 153,827,465 (GRCm38)	V147M	possibly damaging	Het
Rph3a	A	G	5: 120,945,422 (GRCm38)	I595T	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Homo
Slc35e2	C	T	4: 155,610,026 (GRCm38)	P10L	probably benign	Het
Slc8a2	T	C	7: 16,145,334 (GRCm38)	F582L	possibly damaging	Het
Sprr2e	A	G	3: 92,352,864 (GRCm38)	M1V	probably null	Het
Steap1	T	A	5: 5,740,827 (GRCm38)	R40S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm38)	G252R	probably benign	Het
Thsd7a	A	T	6: 12,408,836 (GRCm38)	V729E	probably damaging	Het
Tmprss13	A	G	9: 45,345,332 (GRCm38)	Y525C	probably damaging	Het
Tnik	A	T	3: 28,577,500 (GRCm38)	H383L	possibly damaging	Het
Vars1	T	C	17: 35,013,743 (GRCm38)	L881S	probably damaging	Het
Vmn1r201	A	C	13: 22,475,215 (GRCm38)	S200R	probably damaging	Het
Vmn2r14	A	T	5: 109,221,267 (GRCm38)	W147R	probably benign	Het
Vmn2r-ps130	A	T	17: 23,076,785 (GRCm38)	H643L	probably benign	Het
Vps53	T	C	11: 76,102,018 (GRCm38)	E367G	probably benign	Het
Xab2	C	T	8: 3,611,822 (GRCm38)	G544S	probably damaging	Het
Ythdf3	T	A	3: 16,204,856 (GRCm38)	V400E	possibly damaging	Het
Zfand5	C	T	19: 21,279,696 (GRCm38)	P147S	probably benign	Het
Zfp768	A	T	7: 127,345,147 (GRCm38)		probably null	Het
Zswim8	A	G	14: 20,713,453 (GRCm38)	M423V	probably benign	Het

Other mutations in Or4k52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Or4k52	APN	2	111,780,901 (GRCm38)	missense	possibly damaging	0.80
IGL01604:Or4k52	APN	2	111,780,590 (GRCm38)	missense	possibly damaging	0.60
IGL02959:Or4k52	APN	2	111,780,610 (GRCm38)	missense	probably damaging	1.00
IGL02975:Or4k52	APN	2	111,780,921 (GRCm38)	nonsense	probably null
IGL03357:Or4k52	APN	2	111,780,526 (GRCm38)	missense	probably benign	0.01
R0245:Or4k52	UTSW	2	111,780,335 (GRCm38)	missense	probably damaging	1.00
R1522:Or4k52	UTSW	2	111,780,348 (GRCm38)	splice site	probably null
R2126:Or4k52	UTSW	2	111,780,496 (GRCm38)	missense	probably damaging	0.99
R2432:Or4k52	UTSW	2	111,780,671 (GRCm38)	missense	probably benign	0.01
R4780:Or4k52	UTSW	2	111,780,845 (GRCm38)	missense	probably damaging	1.00
R5260:Or4k52	UTSW	2	111,781,181 (GRCm38)	missense	probably damaging	1.00
R5517:Or4k52	UTSW	2	111,780,459 (GRCm38)	missense	probably benign
R7315:Or4k52	UTSW	2	111,780,659 (GRCm38)	missense	probably damaging	0.96
R7740:Or4k52	UTSW	2	111,780,448 (GRCm38)	missense	possibly damaging	0.94
R8742:Or4k52	UTSW	2	111,780,565 (GRCm38)	missense	probably benign	0.03
R8891:Or4k52	UTSW	2	111,780,841 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAGGCTGGGGCATCTAAGG -3'
(R):5'- TAAATCAGAATGTTGTGGTGGC -3'

Sequencing Primer
(F):5'- ATCTAAGGCCCTGTCCACGTG -3'
(R):5'- TGTGGTGGCTGATTTAAATAATACG -3'

Posted On

2018-03-15