Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Olfr952'

550709

Institutional Source

Beutler Lab

Gene Symbol

Olfr952

Ensembl Gene

ENSMUSG00000058856

Gene Name

olfactory receptor 952

Synonyms

MOR171-21, GA_x6K02T2PVTD-33124064-33123120

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39426093-39427148 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39426303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 256 (T256I)

Ref Sequence

ENSEMBL: ENSMUSP00000073558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073895]

AlphaFold

Q8VFD7

Predicted Effect

probably benign
Transcript: ENSMUST00000073895
AA Change: T256I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000073558
Gene: ENSMUSG00000058856
AA Change: T256I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.5e-42	PFAM
Pfam:7tm_1	41	294	3.2e-18	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,770,788	A26T	probably benign	Het
Acly	T	C	11: 100,492,291		probably null	Het
Adam29	A	C	8: 55,871,404	L672V	probably benign	Het
Adgrf1	T	C	17: 43,310,602	S577P	probably benign	Het
Ankar	T	C	1: 72,643,293	K1371R	probably damaging	Het
Arid5b	T	C	10: 68,098,179	D631G	probably damaging	Het
Brpf3	T	C	17: 28,806,637	V228A	probably benign	Het
C3	T	C	17: 57,206,276	D1457G	probably benign	Het
Calr4	A	T	4: 109,242,229	N143I	probably benign	Het
Catsperd	T	G	17: 56,628,811		probably null	Het
Cobl	T	A	11: 12,296,540	H154L		Het
Cryzl2	G	A	1: 157,488,584		probably benign	Het
Dennd1c	A	G	17: 57,067,915		probably null	Het
Dnah8	A	T	17: 30,704,724	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,866,768	S218P	probably benign	Het
Fbxw27	G	T	9: 109,770,155	T398N	probably damaging	Het
Fhod3	A	G	18: 25,090,162	D855G	probably benign	Het
Flii	A	G	11: 60,720,655	V410A	probably benign	Het
Fsip2	C	A	2: 82,987,624	P4567Q	probably benign	Het
Fxyd1	T	G	7: 31,053,033	Q66H	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gramd3	C	T	18: 56,491,945	T370I	probably benign	Het
Kdr	A	G	5: 75,944,333	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,830,546	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,173,108	R92G	probably benign	Het
Map1a	T	A	2: 121,300,517	S605T	probably benign	Het
Megf8	A	T	7: 25,346,520	D1496V	probably damaging	Het
Mgam	T	C	6: 40,661,716	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Nav3	T	C	10: 109,703,334	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,645,438		probably null	Het
Ndst1	A	G	18: 60,695,500	F661L	possibly damaging	Het
Neu3	G	A	7: 99,813,820	T232M	possibly damaging	Het
Nf1	T	C	11: 79,570,330	S741P	probably benign	Het
Nr5a1	G	T	2: 38,694,136	L424M	probably damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr1301	A	T	2: 111,755,076	T276S	probably benign	Het
Olfr1426	A	G	19: 12,088,166	F209L	possibly damaging	Het
Olfr212	T	A	6: 116,516,760	*328R	probably null	Het
Otud7a	A	G	7: 63,757,455	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,746	L237S	probably damaging	Het
Pias1	A	G	9: 62,881,145	M79T		Het
Prom2	T	C	2: 127,539,778	E206G	probably benign	Het
Scarb1	A	T	5: 125,304,350	N43K	probably damaging	Het
Sdad1	A	G	5: 92,293,973	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,834,905	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,243,497	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,629,573	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750	H53Q	probably damaging	Het
Spata22	T	C	11: 73,340,399	F160L	probably benign	Het
Stag1	G	A	9: 100,944,826	V949I	probably benign	Het
Syne1	T	C	10: 5,123,744	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,254,891	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,630,341	M226I	probably benign	Het
Tep1	T	C	14: 50,844,487		probably null	Het
Tigd2	C	A	6: 59,210,181	T11K	probably damaging	Het
Trappc9	A	G	15: 72,693,619	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,240,989	M455T	probably benign	Het
Usp42	A	T	5: 143,726,645	S95T	probably damaging	Het
Usp44	T	C	10: 93,850,187	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,756,393	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,672,541	I616N	probably damaging	Het
Zfp352	A	G	4: 90,224,880	K419R	probably benign	Het
Zfp595	T	A	13: 67,317,647	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,772,161	S301T	probably benign	Het
Zzef1	T	C	11: 72,872,649	V1374A	possibly damaging	Het

Other mutations in Olfr952

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Olfr952	APN	9	39426657	missense	probably benign	0.02
IGL01368:Olfr952	APN	9	39426180	missense	probably damaging	1.00
IGL01866:Olfr952	APN	9	39426729	missense	probably damaging	0.99
IGL01939:Olfr952	APN	9	39426338	missense	probably damaging	1.00
IGL03048:Olfr952	UTSW	9	39426769	missense	probably benign	0.00
R0069:Olfr952	UTSW	9	39426892	missense	probably damaging	0.98
R1460:Olfr952	UTSW	9	39426207	missense	probably benign	0.43
R1478:Olfr952	UTSW	9	39426592	missense	possibly damaging	0.91
R1737:Olfr952	UTSW	9	39426958	missense	probably damaging	0.99
R2112:Olfr952	UTSW	9	39426670	missense	probably benign	0.26
R2169:Olfr952	UTSW	9	39426358	missense	possibly damaging	0.95
R2225:Olfr952	UTSW	9	39426619	missense	probably benign	0.00
R3731:Olfr952	UTSW	9	39427069	start codon destroyed	probably benign	0.23
R3777:Olfr952	UTSW	9	39426605	missense	possibly damaging	0.75
R3802:Olfr952	UTSW	9	39426286	missense	probably damaging	1.00
R4600:Olfr952	UTSW	9	39426435	missense	probably benign	0.27
R4887:Olfr952	UTSW	9	39426235	missense	possibly damaging	0.80
R5215:Olfr952	UTSW	9	39426623	nonsense	probably null
R5813:Olfr952	UTSW	9	39426736	missense	probably damaging	1.00
R6140:Olfr952	UTSW	9	39426247	missense	possibly damaging	0.91
R6180:Olfr952	UTSW	9	39426712	missense	probably damaging	1.00
R6383:Olfr952	UTSW	9	39426234	missense	probably damaging	1.00
R6416:Olfr952	UTSW	9	39426891	missense	probably damaging	0.98
R6808:Olfr952	UTSW	9	39426540	missense	probably damaging	0.99
R7826:Olfr952	UTSW	9	39426127	makesense	probably null
R8309:Olfr952	UTSW	9	39426670	missense	probably benign	0.40
R8870:Olfr952	UTSW	9	39426252	missense	probably damaging	0.97
R8879:Olfr952	UTSW	9	39426219	missense	possibly damaging	0.86
R9084:Olfr952	UTSW	9	39426225	missense	probably damaging	1.00
R9209:Olfr952	UTSW	9	39426339	missense	probably damaging	0.99
R9435:Olfr952	UTSW	9	39426210	missense	probably benign
R9583:Olfr952	UTSW	9	39426555	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCCCTGTACATTGAAGTAATTGCC -3'
(R):5'- ACACAGTCTTCCTGCTAAGATTG -3'

Sequencing Primer
(F):5'- GCCAAGAAAATCTATTCCTTGTTTTG -3'
(R):5'- GTGATCTTTTCCCATTACTTGAGCTG -3'

Posted On

2019-05-15