Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Olfr975'

249379

Institutional Source

Beutler Lab

Gene Symbol

Olfr975

Ensembl Gene

ENSMUSG00000043331

Gene Name

olfactory receptor 975

Synonyms

MOR224-2, GA_x6K02T2PVTD-33651220-33650288

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

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

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39948131-39952046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39950528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 81 (L81P)

Ref Sequence

ENSEMBL: ENSMUSP00000150664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054067] [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000216647] [ENSMUST00000217630]

AlphaFold

Q8VG91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054067
AA Change: L81P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.9e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	249	1.8e-7	PFAM
Pfam:7tm_1	39	286	3.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169307

SMART Domains

Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	1.5e-48	PFAM
Pfam:7TM_GPCR_Srsx	47	271	1.1e-5	PFAM
Pfam:7tm_1	53	300	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213171

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216647
AA Change: L81P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000217630

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
4933409G03Rik	A	T	2: 68,591,520	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118		probably benign	Het
Celf2	G	A	2: 6,553,889	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,222,781	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922	L56P	unknown	Het
Dctn1	C	T	6: 83,199,800	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094		probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Entpd7	A	T	19: 43,728,088	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784	Q33L	probably benign	Het
Gm5415	C	T	1: 32,545,861	A323T	possibly damaging	Het
Gm6583	A	T	5: 112,355,118	V240D	probably damaging	Het
Gnat2	A	T	3: 108,095,539	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Homez	C	A	14: 54,857,574	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824	A1034D	unknown	Het
Kcnc4	G	T	3: 107,445,547	P572T	probably benign	Het
Kmt2d	T	C	15: 98,862,266	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,362,945	D876V	probably benign	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr235	A	T	19: 12,268,919	T230S	probably damaging	Het
Olfr740	T	C	14: 50,453,436	L128P	probably damaging	Het
Pcdha11	G	T	18: 37,007,272	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Pum2	A	T	12: 8,748,931	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777		probably null	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Snx33	C	A	9: 56,918,538	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439		probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277	T141I	probably benign	Het

Other mutations in Olfr975

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Olfr975	APN	9	39949988	missense	probably benign	0.01
IGL01537:Olfr975	APN	9	39950625	missense	probably benign	0.00
IGL01963:Olfr975	APN	9	39950240	missense	probably damaging	1.00
IGL02400:Olfr975	APN	9	39950339	missense	probably benign
IGL03115:Olfr975	APN	9	39950744	missense	probably damaging	0.98
IGL03226:Olfr975	APN	9	39950423	splice site	probably null
R0088:Olfr975	UTSW	9	39950375	missense	probably benign	0.03
R0212:Olfr975	UTSW	9	39949940	missense	probably benign	0.44
R1668:Olfr975	UTSW	9	39950169	missense	possibly damaging	0.94
R1878:Olfr975	UTSW	9	39950757	missense	probably benign	0.35
R2225:Olfr975	UTSW	9	39950537	missense	possibly damaging	0.84
R2291:Olfr975	UTSW	9	39950334	missense	probably benign	0.19
R2420:Olfr975	UTSW	9	39950528	missense	possibly damaging	0.47
R2421:Olfr975	UTSW	9	39950528	missense	possibly damaging	0.47
R2425:Olfr975	UTSW	9	39949841	missense	probably null	0.25
R2918:Olfr975	UTSW	9	39950364	missense	probably benign
R4536:Olfr975	UTSW	9	39950435	missense	probably damaging	1.00
R4709:Olfr975	UTSW	9	39949869	missense	probably damaging	0.97
R4831:Olfr975	UTSW	9	39950112	missense	probably benign	0.01
R4921:Olfr975	UTSW	9	39950225	missense	probably damaging	0.98
R5113:Olfr975	UTSW	9	39949925	missense	probably damaging	0.99
R5141:Olfr975	UTSW	9	39949874	missense	probably benign	0.07
R5195:Olfr975	UTSW	9	39950679	missense	probably benign
R5213:Olfr975	UTSW	9	39950093	missense	probably damaging	0.99
R5568:Olfr975	UTSW	9	39950687	missense	probably benign	0.05
R6993:Olfr975	UTSW	9	39950637	missense	probably benign
R7080:Olfr975	UTSW	9	39950148	missense	probably damaging	1.00
R7436:Olfr975	UTSW	9	39950053	nonsense	probably null
R8178:Olfr975	UTSW	9	39950412	missense	probably benign	0.05
R8179:Olfr975	UTSW	9	39950412	missense	probably benign	0.05
R8382:Olfr975	UTSW	9	39950159	missense	probably benign	0.21
R8402:Olfr975	UTSW	9	39950417	missense	probably benign	0.39
R8511:Olfr975	UTSW	9	39950159	missense	probably benign	0.21
R8798:Olfr975	UTSW	9	39950717	missense	probably benign	0.40
R9068:Olfr975	UTSW	9	39950791	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGAGGACAGATGCGTGC -3'
(R):5'- CTGGAAAGGATGCTCTTTGTCCTC -3'

Sequencing Primer
(F):5'- AGATGCGTGCAGACAGCTC -3'
(R):5'- AAAGGATGCTCTTTGTCCTCTTTTTG -3'

Posted On

2014-11-12