Mutagenetix > Incidental Mutation

Incidental Mutation 'R6701:Or5g9'

528720

Institutional Source

Beutler Lab

Gene Symbol

Or5g9

Ensembl Gene

ENSMUSG00000043226

Gene Name

olfactory receptor family 5 subfamily G member 9

Synonyms

Olfr1009, MOR175-3, GA_x6K02T2Q125-47195323-47196267

MMRRC Submission

044819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85551751-85552695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85552675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 309 (K309E)

Ref Sequence

ENSEMBL: ENSMUSP00000150450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055517] [ENSMUST00000216443]

AlphaFold

Q8VFK1

Predicted Effect

probably benign
Transcript: ENSMUST00000055517
AA Change: K309E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061475
Gene: ENSMUSG00000043226
AA Change: K309E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.4e-55	PFAM
Pfam:7tm_1	41	290	4.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213600

Predicted Effect

probably benign
Transcript: ENSMUST00000216443
AA Change: K309E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,243 (GRCm39)	K684N	probably damaging	Het
Akna	C	T	4: 63,313,517 (GRCm39)	G202D	probably benign	Het
Alpk1	T	A	3: 127,522,985 (GRCm39)	D19V	probably damaging	Het
Arid4a	A	T	12: 71,134,286 (GRCm39)	K1196I	probably damaging	Het
Asic3	A	T	5: 24,619,127 (GRCm39)	M140L	possibly damaging	Het
Bfsp2	C	T	9: 103,357,077 (GRCm39)	V117M	possibly damaging	Het
Bltp3a	T	A	17: 28,106,331 (GRCm39)	C952*	probably null	Het
Cd244a	C	A	1: 171,401,723 (GRCm39)	L150M	possibly damaging	Het
Cd3e	T	C	9: 44,912,351 (GRCm39)	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,757,025 (GRCm39)	I202T	probably benign	Het
Cnot4	G	T	6: 35,045,539 (GRCm39)	T224K	probably damaging	Het
Col24a1	A	G	3: 145,020,141 (GRCm39)	T171A	probably benign	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Dcc	T	A	18: 71,942,191 (GRCm39)	T309S	probably benign	Het
Ddx21	T	C	10: 62,426,470 (GRCm39)	Y461C	probably damaging	Het
Dnah10	G	A	5: 124,837,223 (GRCm39)	V989M	probably benign	Het
Dppa4	A	T	16: 48,111,674 (GRCm39)	K220*	probably null	Het
Dysf	G	A	6: 84,089,172 (GRCm39)	G912S	probably damaging	Het
Efhb	A	T	17: 53,706,091 (GRCm39)	N815K	probably benign	Het
Eml6	T	A	11: 29,735,748 (GRCm39)	L1139F	probably damaging	Het
Eprs1	T	G	1: 185,103,087 (GRCm39)	I78S	probably damaging	Het
Fat1	C	A	8: 45,403,718 (GRCm39)	S156R	probably damaging	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Frzb	G	A	2: 80,277,163 (GRCm39)	R8W	possibly damaging	Het
Guf1	T	A	5: 69,715,596 (GRCm39)	D47E	probably damaging	Het
Haus3	A	T	5: 34,325,078 (GRCm39)	F194I	probably damaging	Het
Hivep3	C	T	4: 119,951,737 (GRCm39)	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,779,920 (GRCm39)	T392A	probably damaging	Het
Hsd17b1	C	A	11: 100,970,981 (GRCm39)	C312*	probably null	Het
Ighg2b	T	C	12: 113,270,699 (GRCm39)	T144A	unknown	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Irag2	G	T	6: 145,090,702 (GRCm39)	E61*	probably null	Het
Jhy	T	C	9: 40,828,887 (GRCm39)	R340G	probably damaging	Het
Klra3	C	G	6: 130,307,216 (GRCm39)	V144L	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Lrrc4	A	G	6: 28,830,905 (GRCm39)	F237L	possibly damaging	Het
Lyst	T	A	13: 13,856,070 (GRCm39)	C2464S	probably benign	Het
Maml1	T	C	11: 50,157,509 (GRCm39)	E222G	probably damaging	Het
Med15	C	T	16: 17,489,447 (GRCm39)		probably benign	Het
Naalad2	T	C	9: 18,296,444 (GRCm39)	I69V	probably null	Het
Neb	T	C	2: 52,181,220 (GRCm39)	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,041,113 (GRCm39)	N159K	probably benign	Het
Nup153	A	T	13: 46,840,541 (GRCm39)	N1022K	probably benign	Het
Or1e29	T	C	11: 73,667,296 (GRCm39)	N286D	probably damaging	Het
Or5w15	C	T	2: 87,567,753 (GRCm39)	R305K	probably benign	Het
Otof	T	A	5: 30,528,141 (GRCm39)	K1901*	probably null	Het
Pde1c	A	T	6: 56,158,685 (GRCm39)	Y136N	probably damaging	Het
Phc1	G	T	6: 122,302,733 (GRCm39)	N263K	probably damaging	Het
Plxna1	A	T	6: 89,296,430 (GRCm39)	D1871E	probably damaging	Het
Prdm6	T	A	18: 53,669,751 (GRCm39)	M123K	possibly damaging	Het
Ranbp17	T	C	11: 33,425,066 (GRCm39)	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,022,279 (GRCm39)	T287K	probably damaging	Het
Scn1a	G	A	2: 66,168,304 (GRCm39)	R101W	probably damaging	Het
Scn8a	A	G	15: 100,937,977 (GRCm39)	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 33,080,924 (GRCm39)	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,323,269 (GRCm39)	R479H	probably damaging	Het
Sis	T	A	3: 72,856,860 (GRCm39)	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,712,947 (GRCm39)	D256E	probably benign	Het
Slc30a8	A	G	15: 52,194,970 (GRCm39)	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,490,347 (GRCm39)	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,232,149 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,159,274 (GRCm39)	L327P	probably damaging	Het
Stat4	A	G	1: 52,142,133 (GRCm39)	Y660C	probably damaging	Het
Terb1	T	C	8: 105,199,388 (GRCm39)	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,513,500 (GRCm39)	S1245T	probably damaging	Het
Ttn	A	T	2: 76,619,162 (GRCm39)	S16072R	probably damaging	Het
Ttn	A	T	2: 76,739,590 (GRCm39)	Y3650N	probably benign	Het
Uso1	T	C	5: 92,314,444 (GRCm39)	F117S	probably damaging	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r67	G	A	7: 84,802,023 (GRCm39)	P93S	probably damaging	Het
Xirp2	A	T	2: 67,346,569 (GRCm39)	I2937F	possibly damaging	Het
Zc2hc1c	C	A	12: 85,336,446 (GRCm39)		probably null	Het
Zfp12	T	C	5: 143,230,219 (GRCm39)	V182A	probably benign	Het
Zfp473	G	T	7: 44,382,218 (GRCm39)	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,081,136 (GRCm39)	G389C	probably damaging	Het
Zfp990	A	G	4: 145,264,748 (GRCm39)	D582G	probably benign	Het

Other mutations in Or5g9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Or5g9	APN	2	85,552,583 (GRCm39)	missense	probably damaging	1.00
IGL01862:Or5g9	APN	2	85,552,472 (GRCm39)	missense	probably damaging	0.99
IGL02868:Or5g9	APN	2	85,551,919 (GRCm39)	missense	probably benign	0.19
IGL02904:Or5g9	APN	2	85,552,099 (GRCm39)	missense	probably damaging	0.99
IGL03240:Or5g9	APN	2	85,552,675 (GRCm39)	nonsense	probably null
IGL03347:Or5g9	APN	2	85,552,151 (GRCm39)	missense	probably benign	0.01
R1148:Or5g9	UTSW	2	85,552,620 (GRCm39)	nonsense	probably null
R1148:Or5g9	UTSW	2	85,552,620 (GRCm39)	nonsense	probably null
R1446:Or5g9	UTSW	2	85,551,917 (GRCm39)	missense	probably damaging	0.99
R3782:Or5g9	UTSW	2	85,552,040 (GRCm39)	missense	probably damaging	1.00
R4343:Or5g9	UTSW	2	85,552,592 (GRCm39)	missense	probably damaging	1.00
R4836:Or5g9	UTSW	2	85,551,793 (GRCm39)	missense	probably benign
R4845:Or5g9	UTSW	2	85,551,836 (GRCm39)	nonsense	probably null
R5490:Or5g9	UTSW	2	85,552,666 (GRCm39)	missense	probably benign	0.01
R5534:Or5g9	UTSW	2	85,552,331 (GRCm39)	missense	probably benign	0.35
R5679:Or5g9	UTSW	2	85,552,390 (GRCm39)	missense	probably damaging	1.00
R6476:Or5g9	UTSW	2	85,551,928 (GRCm39)	missense	probably damaging	1.00
R7024:Or5g9	UTSW	2	85,551,952 (GRCm39)	missense	probably damaging	1.00
R7140:Or5g9	UTSW	2	85,551,818 (GRCm39)	missense	probably damaging	0.97
R7174:Or5g9	UTSW	2	85,552,297 (GRCm39)	missense	possibly damaging	0.81
R8079:Or5g9	UTSW	2	85,552,387 (GRCm39)	missense	probably benign	0.07
R8082:Or5g9	UTSW	2	85,551,824 (GRCm39)	missense	probably benign	0.01
R8213:Or5g9	UTSW	2	85,551,845 (GRCm39)	missense	probably null	1.00
R9103:Or5g9	UTSW	2	85,552,527 (GRCm39)	nonsense	probably null
R9387:Or5g9	UTSW	2	85,551,806 (GRCm39)	missense	probably benign	0.00
R9508:Or5g9	UTSW	2	85,552,165 (GRCm39)	missense	possibly damaging	0.82
R9679:Or5g9	UTSW	2	85,552,482 (GRCm39)	missense	probably damaging	0.99
R9776:Or5g9	UTSW	2	85,552,145 (GRCm39)	missense	probably damaging	1.00
X0020:Or5g9	UTSW	2	85,552,322 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTTCCCATGTTACAGCAG -3'
(R):5'- AGCTAAGCAAAACACTCTGCTTG -3'

Sequencing Primer
(F):5'- ACAGCAGTTTCTATTTTGTACGGGAC -3'
(R):5'- GCAAAACACTCTGCTTGTTATTTTC -3'

Posted On

2018-07-24