Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Olfr975'

437033

Institutional Source

Beutler Lab

Gene Symbol

Olfr975

Ensembl Gene

ENSMUSG00000043331

Gene Name

olfactory receptor 975

Synonyms

MOR224-2, GA_x6K02T2PVTD-33651220-33650288

MMRRC Submission

043125-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39948131-39952046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39950687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 28 (L28P)

Ref Sequence

ENSEMBL: ENSMUSP00000150664 (fasta)

Gene Model

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

AlphaFold

Q8VG91

Predicted Effect

probably benign
Transcript: ENSMUST00000054067
AA Change: L28P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: L28P

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

probably benign
Transcript: ENSMUST00000216647
AA Change: L28P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000217630

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,622,794	V207A	probably benign	Het
Abcc10	C	A	17: 46,303,908		probably null	Het
Abcc9	A	C	6: 142,689,016	V174G	possibly damaging	Het
Abl1	C	T	2: 31,779,074	A155V	probably damaging	Het
Aco2	T	A	15: 81,903,586	D212E	probably damaging	Het
Adam26b	A	T	8: 43,520,492	M491K	probably benign	Het
Anapc5	G	A	5: 122,791,925		probably benign	Het
Atf7	A	G	15: 102,563,322	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,607,600	S2100P	probably damaging	Het
Capn5	T	A	7: 98,125,930	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,709,091	M748V	probably damaging	Het
Cd300c2	T	C	11: 115,000,836	T71A	probably damaging	Het
Chmp2a	T	C	7: 13,033,831	M56V	probably benign	Het
Cilp	A	C	9: 65,280,233	R1203S	probably benign	Het
Clp1	T	A	2: 84,725,978	K53*	probably null	Het
Crhbp	T	A	13: 95,442,229	D128V	probably damaging	Het
Crispld1	T	A	1: 17,750,271	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,689,082	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,370,646	M149L	probably benign	Het
Ddx24	T	A	12: 103,424,288	Q59L	possibly damaging	Het
Ddx27	A	G	2: 167,029,519	H512R	possibly damaging	Het
Ddx58	T	A	4: 40,222,140	M380L	probably benign	Het
Dlgap4	T	A	2: 156,762,901	*993K	probably null	Het
Dmxl2	A	T	9: 54,423,359		probably null	Het
Dus4l	A	T	12: 31,646,713	F88L	probably damaging	Het
Ep400	A	T	5: 110,756,205	V176E	probably damaging	Het
Fam71e1	T	G	7: 44,501,004	S207A	probably damaging	Het
Fat3	T	A	9: 16,376,923	K435*	probably null	Het
Fsip2	T	C	2: 82,986,564	C4214R	probably benign	Het
Gfral	T	C	9: 76,164,805	*394W	probably null	Het
Glis1	T	C	4: 107,619,635	S518P	probably damaging	Het
H2-T10	A	G	17: 36,119,187		probably null	Het
Hsbp1l1	T	C	18: 80,235,464	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,702,217	F87S	probably damaging	Het
Ints13	A	C	6: 146,576,357	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,618,627	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,788,914		probably benign	Het
Kmt5b	A	T	19: 3,786,538	H25L	probably benign	Het
Krt28	A	T	11: 99,371,384	M260K	probably damaging	Het
Krt79	A	G	15: 101,929,785	S512P	probably damaging	Het
Lama1	A	T	17: 67,768,298		probably null	Het
Maneal	T	C	4: 124,857,144	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,663,998	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,283,428	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,072,122		probably null	Het
Mrpl46	C	G	7: 78,780,494	W176S	probably damaging	Het
Muc19	A	G	15: 91,884,274		noncoding transcript	Het
Mup3	T	G	4: 62,084,572	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,874,628	H1699R	probably benign	Het
Ndrg2	T	A	14: 51,906,963	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,649,822	V688D	probably benign	Het
Ninj2	T	C	6: 120,198,709	I101T	probably benign	Het
Nlrp10	T	A	7: 108,924,261	M671L	probably benign	Het
Npsr1	T	A	9: 24,313,214	L296I	probably damaging	Het
Olfr582	G	T	7: 103,042,310	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,708,048	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,197,367	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,020,390	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,491,800	S728T	probably benign	Het
Phyhd1	T	A	2: 30,277,010	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,370,593	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,696,150	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,941,129	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,157,435	T1722I	probably damaging	Het
Pole3	T	C	4: 62,524,431	N53S	probably damaging	Het
Ptk6	A	T	2: 181,199,695	N140K	possibly damaging	Het
Rab12	C	T	17: 66,497,423	R180H	probably damaging	Het
Rab36	G	T	10: 75,052,479	V252L	probably benign	Het
Ranbp3	T	C	17: 56,701,543		probably null	Het
Rapgef2	A	G	3: 79,104,001	L259P	probably damaging	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Scd2	T	C	19: 44,299,703	F178S	probably damaging	Het
Shmt2	A	G	10: 127,520,381	S87P	probably damaging	Het
Slf1	T	A	13: 77,046,704	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,046,530	Y540*	probably null	Het
Srpk2	T	A	5: 23,525,699	Q274L	possibly damaging	Het
Stradb	T	A	1: 58,992,742	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,593	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,701,087	T63A	probably benign	Het
Ticrr	G	A	7: 79,689,967		probably null	Het
Ticrr	T	A	7: 79,695,296	C1636*	probably null	Het
Tln2	A	G	9: 67,311,865	I266T	probably damaging	Het
Tmcc1	G	C	6: 116,022,110	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,512,040	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692	E75*	probably null	Het
Ttn	T	G	2: 76,750,578	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,392,038	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,039,088	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,473,281	S21A	unknown	Het
Usp17lb	C	T	7: 104,841,208	G170R	probably damaging	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vcan	T	A	13: 89,688,671	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,754,494	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,931,135	V16I	probably benign	Het
Xdh	T	C	17: 73,943,885	D24G	possibly damaging	Het
Xylb	T	A	9: 119,361,132	H68Q	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
R2422: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
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'- TCAGCACAGCCCAGGAAATG -3'
(R):5'- AGAGGGTTCTGCAAAGGCTTTG -3'

Sequencing Primer
(F):5'- CCCTGGTAAGAGATCGTGTGAC -3'
(R):5'- GCAAAGGCTTTGATTTCTTTGGAAAG -3'

Posted On

2016-10-24