Mutagenetix > Incidental Mutation

Incidental Mutation 'R3951:Or9s23'

307915

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

040828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92500847-92501928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92501511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 206 (M206K)

Ref Sequence

ENSEMBL: ENSMUSP00000150792 (fasta)

Gene Model

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

AlphaFold

Q8VGU3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074859
AA Change: M206K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074402
Gene: ENSMUSG00000058904
AA Change: M206K

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

possibly damaging
Transcript: ENSMUST00000214239
AA Change: M206K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (55/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,451,158 (GRCm39)		probably benign	Het
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Akr1c18	C	T	13: 4,185,284 (GRCm39)	V283I	probably benign	Het
Atp2b2	T	A	6: 113,737,792 (GRCm39)	M861L	possibly damaging	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Clspn	A	G	4: 126,470,172 (GRCm39)	E814G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,914 (GRCm39)	Q97R	probably benign	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Ect2	A	T	3: 27,184,269 (GRCm39)	D517E	probably benign	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Fkbp8	T	A	8: 70,985,311 (GRCm39)	L275Q	probably damaging	Het
Gabrb2	A	G	11: 42,517,708 (GRCm39)	Y510C	probably damaging	Het
Gda	T	C	19: 21,449,809 (GRCm39)	T16A	probably benign	Het
Ggcx	G	A	6: 72,403,541 (GRCm39)	G363R	probably benign	Het
Gm527	T	G	12: 64,970,276 (GRCm39)		probably benign	Het
Hoxb2	A	G	11: 96,244,001 (GRCm39)	E204G	probably damaging	Het
Hsd17b11	G	A	5: 104,140,803 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,249,249 (GRCm39)		probably benign	Het
Kif16b	C	T	2: 142,549,279 (GRCm39)	V1079I	probably benign	Het
Klhl29	T	A	12: 5,190,660 (GRCm39)	S112C	probably damaging	Het
Lpcat2	G	T	8: 93,591,531 (GRCm39)	M58I	probably benign	Het
Lrrc8d	G	T	5: 105,962,142 (GRCm39)	V851F	probably benign	Het
Ltbp3	T	C	19: 5,806,029 (GRCm39)	V929A	probably damaging	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Map3k9	T	C	12: 81,769,295 (GRCm39)	M941V	probably benign	Het
Myom2	A	T	8: 15,134,556 (GRCm39)	Y453F	probably benign	Het
Ncapd2	T	C	6: 125,163,747 (GRCm39)	K78E	probably damaging	Het
Ncor2	G	T	5: 125,109,320 (GRCm39)	D1496E	possibly damaging	Het
Ndnf	T	C	6: 65,680,125 (GRCm39)	Y135H	possibly damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Nsd1	G	C	13: 55,416,267 (GRCm39)	E1438Q	probably benign	Het
Or5al7	G	T	2: 85,992,962 (GRCm39)	C110*	probably null	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Or8g2	A	T	9: 39,822,021 (GRCm39)	R307S	probably benign	Het
Pom121l2	T	G	13: 22,166,298 (GRCm39)	S190A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Scarb1	A	C	5: 125,364,475 (GRCm39)	C85G	probably damaging	Het
Sh2d4b	A	G	14: 40,594,503 (GRCm39)	I159T	probably damaging	Het
Skic3	T	G	13: 76,278,338 (GRCm39)	L551V	probably damaging	Het
Sntg1	C	T	1: 8,853,125 (GRCm39)		probably benign	Het
Sos1	G	A	17: 80,731,610 (GRCm39)	T630I	probably damaging	Het
Spata7	T	A	12: 98,635,732 (GRCm39)	D517E	probably damaging	Het
Tcaf1	T	C	6: 42,655,993 (GRCm39)	T328A	probably benign	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Tubb3	C	A	8: 124,148,003 (GRCm39)	T312N	probably damaging	Het
Ubr4	G	A	4: 139,120,405 (GRCm39)	V277M	probably damaging	Het
Uhrf2	G	A	19: 30,057,261 (GRCm39)	R473Q	probably damaging	Het
Vmn2r43	T	A	7: 8,258,319 (GRCm39)	H298L	probably benign	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
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
R5411:Or9s23	UTSW	1	92,501,546 (GRCm39)	missense	probably benign	0.00
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'- TACCCTGTGACCATGTGTCC -3'
(R):5'- CATGGATGTCAGAGCACCTG -3'

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

Posted On

2015-04-17