Mutagenetix > Incidental Mutation

Incidental Mutation 'R8984:Or2t47'

683911

Institutional Source

Beutler Lab

Gene Symbol

Or2t47

Ensembl Gene

ENSMUSG00000057654

Gene Name

olfactory receptor family 2 subfamily T member 47

Synonyms

GA_x6K02T2NKPP-873285-874217, MOR275-2, Olfr328

MMRRC Submission

068817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58442131-58443063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 58442209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 285 (N285K)

Ref Sequence

ENSEMBL: ENSMUSP00000104452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073933] [ENSMUST00000108824] [ENSMUST00000215717] [ENSMUST00000216725] [ENSMUST00000219448]

AlphaFold

Q5NCD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000073933
AA Change: N285K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073588
Gene: ENSMUSG00000057654
AA Change: N285K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	34	303	8.3e-6	PFAM
Pfam:7tm_1	40	289	1.4e-34	PFAM
Pfam:7tm_4	138	282	4.4e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108824
AA Change: N285K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104452
Gene: ENSMUSG00000057654
AA Change: N285K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	7e-45	PFAM
Pfam:7TM_GPCR_Srsx	34	303	8.3e-6	PFAM
Pfam:7tm_1	40	289	9.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215717
AA Change: N285K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216725
AA Change: N285K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000219448

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,180,880 (GRCm39)	V10E	probably benign	Het
Adss2	A	T	1: 177,601,280 (GRCm39)		probably benign	Het
AI467606	A	T	7: 126,691,673 (GRCm39)	I83F	probably damaging	Het
Atn1	A	T	6: 124,723,923 (GRCm39)	W437R	unknown	Het
Atxn7l2	T	C	3: 108,116,290 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,734,936 (GRCm39)	F750S	possibly damaging	Het
B3gnt6	A	G	7: 97,842,821 (GRCm39)	S380P	probably benign	Het
Bod1l	T	C	5: 41,946,215 (GRCm39)	Q3020R	probably damaging	Het
Borcs6	A	T	11: 68,950,828 (GRCm39)	I69F	probably benign	Het
Brd7	T	A	8: 89,081,340 (GRCm39)	M170L	probably benign	Het
Ccdc191	T	A	16: 43,710,581 (GRCm39)		probably benign	Het
Cit	C	T	5: 116,064,534 (GRCm39)	T472I	possibly damaging	Het
Ddx25	G	T	9: 35,468,685 (GRCm39)	D57E	probably benign	Het
Dnah7a	A	T	1: 53,674,436 (GRCm39)	L447*	probably null	Het
Epb41l3	A	G	17: 69,554,641 (GRCm39)	D247G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etaa1	A	T	11: 17,890,254 (GRCm39)	V869E	probably damaging	Het
Exoc8	T	A	8: 125,622,769 (GRCm39)	I533F	probably benign	Het
Fam117a	A	G	11: 95,254,823 (GRCm39)		probably null	Het
Fam222a	C	T	5: 114,749,092 (GRCm39)	T96I	possibly damaging	Het
Farsa	C	T	8: 85,594,228 (GRCm39)	T326I	probably damaging	Het
Fkbp1b	T	A	12: 4,891,401 (GRCm39)	D12V	probably damaging	Het
Garin3	C	A	11: 46,295,695 (GRCm39)	Y22*	probably null	Het
Gc	C	T	5: 89,589,421 (GRCm39)		probably null	Het
Git2	T	C	5: 114,868,256 (GRCm39)	E705G	probably damaging	Het
Gm10318	G	A	10: 77,689,078 (GRCm39)	C128Y	unknown	Het
H3c3	C	A	13: 23,929,393 (GRCm39)	A30S	probably benign	Het
Hcar2	G	A	5: 124,002,571 (GRCm39)	R311*	probably null	Het
Hira	A	G	16: 18,746,261 (GRCm39)	Q468R	possibly damaging	Het
Hspa1l	T	C	17: 35,197,092 (GRCm39)	V377A	probably damaging	Het
Igkv2-137	T	A	6: 67,532,659 (GRCm39)	W14R	probably damaging	Het
Itga3	A	T	11: 94,953,391 (GRCm39)	L317Q	probably damaging	Het
Jade2	A	C	11: 51,715,906 (GRCm39)	L433W	probably damaging	Het
Kif21a	T	C	15: 90,840,559 (GRCm39)	T1186A	probably benign	Het
Krtap28-10	C	A	1: 83,019,894 (GRCm39)	C82F	unknown	Het
Ksr1	G	A	11: 78,931,709 (GRCm39)	T333M	probably damaging	Het
Msi1	T	C	5: 115,573,598 (GRCm39)	F132S	probably damaging	Het
Myo7b	C	A	18: 32,099,402 (GRCm39)	K1673N	probably null	Het
Myom3	T	A	4: 135,515,255 (GRCm39)	N716K		Het
Ndst4	G	A	3: 125,515,810 (GRCm39)	G312R	probably damaging	Het
Ndufaf2	A	G	13: 108,189,316 (GRCm39)	V144A	probably benign	Het
Omd	T	C	13: 49,743,576 (GRCm39)	S209P	possibly damaging	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or51b17	G	A	7: 103,542,816 (GRCm39)	T42I	probably benign	Het
Or51e1	T	A	7: 102,359,219 (GRCm39)	I251N	possibly damaging	Het
Or52a24	T	C	7: 103,381,220 (GRCm39)	I29T	probably damaging	Het
Or52e3	T	C	7: 102,869,393 (GRCm39)	L156P	possibly damaging	Het
Patl1	T	A	19: 11,898,760 (GRCm39)	Y152N	probably damaging	Het
Plaur	T	A	7: 24,164,577 (GRCm39)	M27K	probably benign	Het
Ppfia2	T	A	10: 106,694,439 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 44,990,100 (GRCm39)	V1142A	probably damaging	Het
Psg28	T	A	7: 18,156,981 (GRCm39)	N418I	probably damaging	Het
Ptprd	A	T	4: 75,863,251 (GRCm39)	F1237I	probably damaging	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rbms3	A	T	9: 116,524,886 (GRCm39)		probably null	Het
Rgs18	A	G	1: 144,629,566 (GRCm39)	V231A	probably benign	Het
Rnf112	T	C	11: 61,343,277 (GRCm39)	R156G	possibly damaging	Het
Rsad1	A	C	11: 94,439,010 (GRCm39)	V150G	probably damaging	Het
Rxrg	G	A	1: 167,462,005 (GRCm39)	V350I	possibly damaging	Het
Sash1	A	G	10: 8,626,808 (GRCm39)	I192T	possibly damaging	Het
Slc25a36	G	A	9: 96,961,259 (GRCm39)	T259I	probably benign	Het
Smarcd3	T	A	5: 24,798,986 (GRCm39)	E324V	probably null	Het
St3gal4	A	G	9: 34,966,944 (GRCm39)	V2A	possibly damaging	Het
Stk17b	A	C	1: 53,796,784 (GRCm39)	S328A	probably benign	Het
Tbrg1	A	G	9: 37,563,949 (GRCm39)	Y229H	probably damaging	Het
Tdg	A	G	10: 82,484,514 (GRCm39)	N409S	probably benign	Het
Terb1	T	C	8: 105,212,036 (GRCm39)	E315G	possibly damaging	Het
Tmem131	A	G	1: 36,867,228 (GRCm39)	F402L	probably benign	Het
Trav4-2	T	C	14: 53,656,190 (GRCm39)	I64T	probably benign	Het
Trav4-4-dv10	A	G	14: 53,921,574 (GRCm39)	T91A	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Zfp551	C	A	7: 12,156,559 (GRCm39)		probably benign	Het

Other mutations in Or2t47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Or2t47	APN	11	58,442,560 (GRCm39)	nonsense	probably null
IGL02887:Or2t47	APN	11	58,442,987 (GRCm39)	missense	probably damaging	1.00
IGL03409:Or2t47	APN	11	58,442,388 (GRCm39)	missense	probably benign	0.01
P4748:Or2t47	UTSW	11	58,442,348 (GRCm39)	missense	probably damaging	1.00
R0504:Or2t47	UTSW	11	58,442,462 (GRCm39)	missense	probably damaging	1.00
R1637:Or2t47	UTSW	11	58,442,246 (GRCm39)	missense	possibly damaging	0.64
R1863:Or2t47	UTSW	11	58,442,849 (GRCm39)	missense	probably benign	0.04
R2158:Or2t47	UTSW	11	58,442,768 (GRCm39)	missense	probably damaging	1.00
R2404:Or2t47	UTSW	11	58,442,546 (GRCm39)	missense	probably damaging	1.00
R4024:Or2t47	UTSW	11	58,442,222 (GRCm39)	missense	possibly damaging	0.90
R4073:Or2t47	UTSW	11	58,442,888 (GRCm39)	missense	probably damaging	1.00
R5261:Or2t47	UTSW	11	58,442,877 (GRCm39)	missense	probably benign	0.01
R5399:Or2t47	UTSW	11	58,442,969 (GRCm39)	missense	probably benign	0.20
R6053:Or2t47	UTSW	11	58,442,892 (GRCm39)	missense	possibly damaging	0.90
R6411:Or2t47	UTSW	11	58,442,483 (GRCm39)	missense	probably damaging	0.99
R6709:Or2t47	UTSW	11	58,442,862 (GRCm39)	missense	probably benign	0.01
R7243:Or2t47	UTSW	11	58,442,227 (GRCm39)	missense	probably damaging	1.00
R7540:Or2t47	UTSW	11	58,442,457 (GRCm39)	missense	possibly damaging	0.96
R8359:Or2t47	UTSW	11	58,443,029 (GRCm39)	missense	probably benign
R9648:Or2t47	UTSW	11	58,442,313 (GRCm39)	missense	probably damaging	1.00
R9676:Or2t47	UTSW	11	58,442,253 (GRCm39)	missense	probably benign	0.00
Z1186:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1186:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1186:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1187:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1188:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1188:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1188:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1189:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1189:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1189:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1190:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1190:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1190:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1191:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1191:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1191:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1192:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1192:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1192:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCCATTACCGACTTCATAAAATG -3'
(R):5'- CTCAAGATGAACTCAGCAGAGG -3'

Sequencing Primer
(F):5'- GGAATAGTTCTTCAAAAAGGGATGTC -3'
(R):5'- GGCAGGAAGAAGGCCCTTG -3'

Posted On

2021-10-11