Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Or9s23'

427440

Institutional Source

Beutler Lab

Gene Symbol

Or9s23

Ensembl Gene

ENSMUSG00000058904

Gene Name

olfactory receptor family 9 subfamily S member 23

Synonyms

MOR208-1, Olfr1413, GA_x6K02T2R7CC-81180849-81179878

MMRRC Submission

042980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92500847-92501928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92501546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 218 (T218S)

Ref Sequence

ENSEMBL: ENSMUSP00000150792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074859] [ENSMUST00000214239]

AlphaFold

Q8VGU3

Predicted Effect

probably benign
Transcript: ENSMUST00000074859
AA Change: T218S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074402
Gene: ENSMUSG00000058904
AA Change: T218S

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
Pfam:7tm_4	38	314	2.3e-50	PFAM
Pfam:7tm_1	48	297	2.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185802

Predicted Effect

probably benign
Transcript: ENSMUST00000214239
AA Change: T218S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	A	9: 53,493,946 (GRCm39)	V392F	probably damaging	Het
Ache	C	T	5: 137,288,326 (GRCm39)	P11S	possibly damaging	Het
Ache	T	A	5: 137,288,692 (GRCm39)		probably null	Het
Acoxl	A	T	2: 127,696,821 (GRCm39)	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,306,650 (GRCm39)		probably null	Het
Adar	T	A	3: 89,646,519 (GRCm39)	F45I	probably benign	Het
Adgrf4	A	C	17: 42,978,104 (GRCm39)	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,215,627 (GRCm39)	I96F	probably benign	Het
Brsk2	T	C	7: 141,554,594 (GRCm39)	M653T	probably benign	Het
Cacna1s	G	T	1: 136,033,549 (GRCm39)	V1275L	probably benign	Het
Ces3b	T	C	8: 105,815,264 (GRCm39)	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,312,969 (GRCm39)	I281N	probably damaging	Het
Col10a1	A	G	10: 34,270,553 (GRCm39)	E175G	probably damaging	Het
Col27a1	T	C	4: 63,142,902 (GRCm39)	S197P	probably damaging	Het
Csmd1	T	A	8: 15,960,471 (GRCm39)	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,091,914 (GRCm39)	E443G	probably damaging	Het
Dhx9	G	T	1: 153,356,969 (GRCm39)	S93R	probably benign	Het
Efcab8	A	G	2: 153,625,676 (GRCm39)	H112R	probably damaging	Het
Eif3d	A	T	15: 77,843,887 (GRCm39)	N486K	probably damaging	Het
Esp8	C	T	17: 40,840,909 (GRCm39)	R57*	probably null	Het
Eya3	A	T	4: 132,417,090 (GRCm39)	I130F	probably damaging	Het
Fat2	G	T	11: 55,143,052 (GRCm39)	L4266I	probably benign	Het
Fras1	T	A	5: 96,793,019 (GRCm39)	D983E	probably benign	Het
Gcc2	T	C	10: 58,106,791 (GRCm39)	S640P	probably damaging	Het
Gys2	C	T	6: 142,394,147 (GRCm39)	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,935,026 (GRCm39)	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,458,403 (GRCm39)	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,027,510 (GRCm39)	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,759,782 (GRCm39)	H722L	probably damaging	Het
Luzp1	C	A	4: 136,270,653 (GRCm39)	Q959K	possibly damaging	Het
Mep1b	T	A	18: 21,219,306 (GRCm39)	H153Q	probably damaging	Het
Mfsd13b	A	T	7: 120,599,346 (GRCm39)	I381F	probably benign	Het
Mvk	A	G	5: 114,597,034 (GRCm39)	T334A	probably benign	Het
Naa30	T	C	14: 49,425,008 (GRCm39)	V320A	probably damaging	Het
Naip5	C	T	13: 100,382,254 (GRCm39)	G152S	possibly damaging	Het
Neb	A	C	2: 52,185,384 (GRCm39)	S949R	probably damaging	Het
Nfya	A	T	17: 48,699,046 (GRCm39)	I214N	possibly damaging	Het
Nsf	G	T	11: 103,773,637 (GRCm39)	N292K	probably damaging	Het
Nup133	T	C	8: 124,653,945 (GRCm39)	T505A	probably benign	Het
Or4c1	A	C	2: 89,133,920 (GRCm39)	S5R	probably benign	Het
Or4p7	A	G	2: 88,221,605 (GRCm39)	T5A	probably benign	Het
Or5h24	T	A	16: 58,919,067 (GRCm39)	H96L	unknown	Het
P4ha3	A	T	7: 99,943,022 (GRCm39)	R136W	probably damaging	Het
Parp12	A	G	6: 39,067,142 (GRCm39)	V550A	probably damaging	Het
Phf11a	T	C	14: 59,532,387 (GRCm39)	D16G	probably benign	Het
Pramel31	T	A	4: 144,088,207 (GRCm39)	M1K	probably null	Het
Rab3gap2	A	G	1: 185,009,342 (GRCm39)		probably null	Het
Sco1	A	G	11: 66,954,784 (GRCm39)	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sfpq	T	A	4: 126,915,516 (GRCm39)	S103T	unknown	Het
Shisa7	G	A	7: 4,832,975 (GRCm39)	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,992,254 (GRCm39)	D144V	probably benign	Het
Stxbp5l	G	A	16: 36,950,213 (GRCm39)	P1044L	probably damaging	Het
Tgm6	G	A	2: 129,987,116 (GRCm39)	R528Q	probably benign	Het
Tlr3	A	T	8: 45,849,992 (GRCm39)	H892Q	probably benign	Het
Tmc2	A	G	2: 130,082,035 (GRCm39)	H406R	probably damaging	Het
Tmtc1	A	T	6: 148,345,397 (GRCm39)		probably null	Het
Ttc19	A	G	11: 62,174,977 (GRCm39)	I139M	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,681,959 (GRCm39)	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,050,300 (GRCm39)	G746W	probably damaging	Het
Zfp335	T	A	2: 164,744,165 (GRCm39)	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,820,071 (GRCm39)	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745 (GRCm39)		probably null	Het

Other mutations in Or9s23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Or9s23	APN	1	92,501,165 (GRCm39)	missense	probably benign	0.01
IGL01829:Or9s23	APN	1	92,501,051 (GRCm39)	missense	probably benign	0.37
IGL02160:Or9s23	APN	1	92,501,079 (GRCm39)	missense	probably damaging	1.00
IGL02535:Or9s23	APN	1	92,500,943 (GRCm39)	missense	probably benign	0.10
IGL03304:Or9s23	APN	1	92,501,025 (GRCm39)	missense	probably benign	0.01
R0001:Or9s23	UTSW	1	92,501,183 (GRCm39)	missense	possibly damaging	0.62
R0033:Or9s23	UTSW	1	92,500,982 (GRCm39)	missense	probably benign	0.05
R2027:Or9s23	UTSW	1	92,501,489 (GRCm39)	missense	probably damaging	0.99
R2152:Or9s23	UTSW	1	92,501,630 (GRCm39)	missense	probably damaging	1.00
R2174:Or9s23	UTSW	1	92,501,379 (GRCm39)	missense	probably benign	0.00
R3407:Or9s23	UTSW	1	92,501,675 (GRCm39)	missense	probably damaging	0.99
R3408:Or9s23	UTSW	1	92,501,675 (GRCm39)	missense	probably damaging	0.99
R3951:Or9s23	UTSW	1	92,501,511 (GRCm39)	missense	possibly damaging	0.53
R4687:Or9s23	UTSW	1	92,501,052 (GRCm39)	missense	possibly damaging	0.63
R4793:Or9s23	UTSW	1	92,501,207 (GRCm39)	missense	possibly damaging	0.89
R5069:Or9s23	UTSW	1	92,501,135 (GRCm39)	missense	probably damaging	1.00
R5070:Or9s23	UTSW	1	92,501,135 (GRCm39)	missense	probably damaging	1.00
R5160:Or9s23	UTSW	1	92,501,544 (GRCm39)	missense	probably benign	0.02
R7487:Or9s23	UTSW	1	92,501,517 (GRCm39)	missense	possibly damaging	0.49
R7677:Or9s23	UTSW	1	92,500,983 (GRCm39)	missense	not run
R7832:Or9s23	UTSW	1	92,501,219 (GRCm39)	missense	probably benign	0.03
R7860:Or9s23	UTSW	1	92,501,810 (GRCm39)	missense	probably benign	0.11
R7984:Or9s23	UTSW	1	92,501,144 (GRCm39)	missense	probably benign	0.03
R8460:Or9s23	UTSW	1	92,501,268 (GRCm39)	missense	probably damaging	1.00
R8734:Or9s23	UTSW	1	92,501,121 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGTGTCCCATGGCATGTG -3'
(R):5'- TCCATGGATGTCAGAGCACC -3'

Sequencing Primer
(F):5'- ACTAGTCCTGGGCACATACTG -3'
(R):5'- ACCTGGCTGAGCATACATG -3'

Posted On

2016-09-01