Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Olfr952'

517939

Institutional Source

Beutler Lab

Gene Symbol

Olfr952

Ensembl Gene

ENSMUSG00000058856

Gene Name

olfactory receptor 952

Synonyms

MOR171-21, GA_x6K02T2PVTD-33124064-33123120

MMRRC Submission

044558-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39426093-39427148 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39426891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 60 (Y60F)

Ref Sequence

ENSEMBL: ENSMUSP00000073558 (fasta)

Gene Model

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

AlphaFold

Q8VFD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000073895
AA Change: Y60F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073558
Gene: ENSMUSG00000058856
AA Change: Y60F

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031	*487K	probably null	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	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
R6808:Olfr952	UTSW	9	39426540	missense	probably damaging	0.99
R7099:Olfr952	UTSW	9	39426303	missense	probably benign	0.01
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'- GGTTAGATATAGCCACATAGCGG -3'
(R):5'- ACTTTCCAGAAGACCATGGAAG -3'

Sequencing Primer
(F):5'- CACATAGCGGTCATATGCCATTG -3'
(R):5'- GAATTAAATCATACCCCAGTGGCAG -3'

Posted On

2018-05-24