Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Olfr1333'

674743

Institutional Source

Beutler Lab

Gene Symbol

Olfr1333

Ensembl Gene

ENSMUSG00000110947

Gene Name

olfactory receptor 1333

Synonyms

MOR259-11, GA_x6K02T2QD9B-18703033-18703986, MOR259-6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118827659-118836279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118829624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 271 (D271G)

Ref Sequence

ENSEMBL: ENSMUSP00000154759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076019] [ENSMUST00000214477]

AlphaFold

Q7TQV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076019
AA Change: D272G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	42	291	4.1e-31	PFAM
Pfam:7tm_4	140	284	2.9e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: D271G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: D271G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 40,753,709	R4T	probably benign	Het
Alk	T	A	17: 71,949,825	I680F	probably benign	Het
Best3	A	G	10: 116,988,667	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,145,601	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Cic	G	A	7: 25,271,206	V121M	probably damaging	Het
Clasp1	C	G	1: 118,578,975	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,864,273	N2482K	possibly damaging	Het
Crebbp	A	G	16: 4,085,027	M2116T	probably benign	Het
Ddn	T	C	15: 98,806,913	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,605,931	T249I	probably benign	Het
Diaph1	A	T	18: 37,854,537	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,180,161	G1547*	probably null	Het
Dvl1	C	T	4: 155,858,154	R626C	possibly damaging	Het
Fam126b	G	T	1: 58,556,554	P55Q	probably damaging	Het
Fam129a	A	G	1: 151,700,178	E351G	probably damaging	Het
Fer1l6	A	C	15: 58,542,163	K13Q	possibly damaging	Het
Fry	G	A	5: 150,386,007	E639K		Het
Gm6408	G	T	5: 146,483,792	V161L	probably benign	Het
Gpatch8	A	T	11: 102,481,184	N509K	unknown	Het
Ints13	T	C	6: 146,556,133	T416A	probably benign	Het
Iqcf6	A	T	9: 106,627,451	M105L	probably damaging	Het
Magi3	C	A	3: 104,015,018	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889	L401Q		Het
Miga2	G	T	2: 30,383,978	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,316,146	V96E	possibly damaging	Het
Nek5	T	C	8: 22,123,579	S28G	probably benign	Het
Notch4	A	G	17: 34,584,988		probably benign	Het
Npc1	A	G	18: 12,190,930	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,506,406	R287C	probably damaging	Het
Olfr341	G	A	2: 36,479,471	R220*	probably null	Het
Olfr406	C	T	11: 74,269,617	T76I	probably damaging	Het
Olfr53	G	C	7: 140,652,413	A145P	possibly damaging	Het
Parn	A	T	16: 13,628,406	L343*	probably null	Het
Pax5	T	A	4: 44,691,865	D127V	probably benign	Het
Peak1	C	A	9: 56,207,143	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,217,611	T204I	probably benign	Het
Pid1	A	T	1: 84,115,973	S65T	unknown	Het
Pkn2	A	G	3: 142,820,640	V392A	probably benign	Het
Plekhh2	A	G	17: 84,571,051	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,596,488	L572Q	probably damaging	Het
Pum3	G	A	19: 27,421,313	T279M	probably damaging	Het
Rasa2	A	G	9: 96,576,349	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,832,420	W264*	probably null	Het
Slc35g3	A	T	11: 69,760,573	Y195*	probably null	Het
Slk	T	A	19: 47,619,193	H289Q		Het
Spef2	T	C	15: 9,668,827	S758G	probably benign	Het
Spon2	C	T	5: 33,214,497	A322T	probably benign	Het
Spred2	T	C	11: 20,001,064	L87P	probably benign	Het
Stk10	A	G	11: 32,589,427	D269G		Het
Tex48	T	A	4: 63,612,535		probably benign	Het
Themis2	T	A	4: 132,786,198	H239L	probably damaging	Het
Tle4	T	A	19: 14,516,373	R199*	probably null	Het
Tlr11	C	T	14: 50,362,725	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,136,780	S1T		Het
Vdac1	T	G	11: 52,376,403	S44A		Het
Vill	C	T	9: 119,068,446	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,610,818	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,310,012	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,509,217	M713L	probably benign	Het
Vmn2r61	T	C	7: 42,300,586	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,941,004	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,739,222	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,014,898	N524K	unknown	Het
Zfp958	A	C	8: 4,628,434	H153P	probably damaging	Het

Other mutations in Olfr1333

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Olfr1333	APN	4	118829792	missense	probably benign	0.30
IGL03023:Olfr1333	APN	4	118830252	missense	probably damaging	0.99
IGL03387:Olfr1333	APN	4	118830041	missense	probably damaging	1.00
R0326:Olfr1333	UTSW	4	118829825	missense	possibly damaging	0.90
R0532:Olfr1333	UTSW	4	118829700	missense	probably damaging	1.00
R1775:Olfr1333	UTSW	4	118829868	missense	probably benign	0.00
R1906:Olfr1333	UTSW	4	118830270	missense	probably damaging	1.00
R1946:Olfr1333	UTSW	4	118830026	missense	probably benign	0.00
R2260:Olfr1333	UTSW	4	118830162	missense	probably damaging	1.00
R5084:Olfr1333	UTSW	4	118829570	missense	probably damaging	1.00
R5337:Olfr1333	UTSW	4	118829666	missense	probably benign	0.44
R5444:Olfr1333	UTSW	4	118830111	missense	probably benign
R5817:Olfr1333	UTSW	4	118830099	missense	probably damaging	0.96
R5973:Olfr1333	UTSW	4	118830216	missense	probably benign	0.22
R5987:Olfr1333	UTSW	4	118830281	missense	probably damaging	0.96
R6031:Olfr1333	UTSW	4	118830391	splice site	probably null
R6031:Olfr1333	UTSW	4	118830391	splice site	probably null
R7255:Olfr1333	UTSW	4	118829952	missense	probably benign	0.17
R7483:Olfr1333	UTSW	4	118830320	missense	probably damaging	0.98
R8214:Olfr1333	UTSW	4	118830091	missense	probably benign
R8479:Olfr1333	UTSW	4	118830015	missense	probably damaging	1.00
R9661:Olfr1333	UTSW	4	118830329	missense	probably benign	0.45
Z1176:Olfr1333	UTSW	4	118830050	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCATGCTGTCTTTCAGGAATG -3'
(R):5'- GTGGCCTCCTACATTCGTATTG -3'

Sequencing Primer
(F):5'- GCACTGTTTCAGTATTAGGCAAAG -3'
(R):5'- GCCATGGCAATTCTCAAGATC -3'

Posted On

2021-07-15