Mutagenetix > Incidental Mutation

Incidental Mutation 'R7953:Or9g20'

649647

Institutional Source

Beutler Lab

Gene Symbol

Or9g20

Ensembl Gene

ENSMUSG00000075209

Gene Name

olfactory receptor family 9 subfamily G member 20

Synonyms

MOR213-9, Olfr1016, GA_x6K02T2Q125-47278889-47277960

MMRRC Submission

045997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85629683-85630612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85630239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 125 (I125N)

Ref Sequence

ENSEMBL: ENSMUSP00000150747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099915] [ENSMUST00000216425] [ENSMUST00000217410]

AlphaFold

A2ASV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099915
AA Change: I125N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097499
Gene: ENSMUSG00000075209
AA Change: I125N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	9.8e-51	PFAM
Pfam:7tm_1	40	289	8.1e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216425
AA Change: I125N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217410
AA Change: I125N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5909

Coding Region Coverage

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

Validation Efficiency

100% (46/46)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,450,896 (GRCm39)	R120G	probably null	Het
Abcb9	T	C	5: 124,211,665 (GRCm39)	Y628C	probably damaging	Het
Adrm1b	A	T	3: 92,336,637 (GRCm39)	Y22N	probably benign	Het
Alpk2	C	T	18: 65,482,901 (GRCm39)	C369Y	probably damaging	Het
Caskin1	T	G	17: 24,723,195 (GRCm39)	L661R	probably damaging	Het
Cep83	A	C	10: 94,573,804 (GRCm39)	N231T	probably damaging	Het
Cfap44	G	A	16: 44,234,054 (GRCm39)	G338D	probably benign	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Col4a4	A	G	1: 82,431,689 (GRCm39)	S1532P	unknown	Het
Cplx4	A	T	18: 66,090,190 (GRCm39)		probably null	Het
Csf1r	G	C	18: 61,257,947 (GRCm39)	G639R	probably damaging	Het
Dnajc27	T	C	12: 4,147,270 (GRCm39)	L151P	possibly damaging	Het
Epha5	A	G	5: 84,381,513 (GRCm39)	V446A	probably benign	Het
Esam	T	C	9: 37,448,317 (GRCm39)	V252A	probably damaging	Het
Flnc	C	A	6: 29,447,828 (GRCm39)	D1210E	probably damaging	Het
Fmn1	G	A	2: 113,426,689 (GRCm39)	M1233I	probably benign	Het
Fstl4	T	C	11: 52,891,050 (GRCm39)	S63P	probably benign	Het
Gas2l2	A	G	11: 83,314,070 (GRCm39)	V414A	possibly damaging	Het
Glra1	G	A	11: 55,424,688 (GRCm39)	P174L	probably damaging	Het
Gm16485	A	T	9: 8,972,196 (GRCm39)	N21Y	unknown	Het
Golga7	A	T	8: 23,746,731 (GRCm39)	C24S	possibly damaging	Het
Ints8	T	C	4: 11,227,128 (GRCm39)	T582A	probably benign	Het
Irx2	A	T	13: 72,777,343 (GRCm39)	T55S	probably benign	Het
Lce1j	A	T	3: 92,696,390 (GRCm39)	C129*	probably null	Het
Mettl25b	T	C	3: 87,834,955 (GRCm39)	N115S	possibly damaging	Het
Mocs1	G	A	17: 49,761,799 (GRCm39)	G631E	possibly damaging	Het
Mpi	A	T	9: 57,457,881 (GRCm39)	L107Q	probably damaging	Het
Msrb2	A	G	2: 19,399,166 (GRCm39)	*176W	probably null	Het
Myh13	T	A	11: 67,231,206 (GRCm39)	L401Q	probably damaging	Het
Npffr2	G	A	5: 89,730,513 (GRCm39)	V148I	probably benign	Het
Oas1a	T	C	5: 121,035,080 (GRCm39)	E360G	probably benign	Het
Or4k15c	A	T	14: 50,321,367 (GRCm39)	I257N	possibly damaging	Het
Or5b96	A	C	19: 12,867,095 (GRCm39)	V282G	probably damaging	Het
Pcdha2	A	G	18: 37,072,579 (GRCm39)	D70G	probably benign	Het
Phf11b	T	C	14: 59,568,722 (GRCm39)	S64G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plpp2	A	C	10: 79,366,374 (GRCm39)	L146R	possibly damaging	Het
Poc5	T	A	13: 96,539,408 (GRCm39)	N316K	probably benign	Het
Rad51ap2	A	T	12: 11,512,593 (GRCm39)	R947*	probably null	Het
Ralgapb	A	G	2: 158,307,803 (GRCm39)	H1037R	probably benign	Het
Rpl21	T	C	5: 146,772,702 (GRCm39)	V141A	probably benign	Het
Rufy3	C	A	5: 88,790,851 (GRCm39)	D517E	probably benign	Het
Scn7a	A	G	2: 66,587,670 (GRCm39)	V11A	possibly damaging	Het
Sipa1l1	A	C	12: 82,496,700 (GRCm39)	Q1744P	probably damaging	Het
Smc2	T	C	4: 52,470,911 (GRCm39)		probably null	Het
Sorcs3	T	A	19: 48,752,734 (GRCm39)	L843Q	possibly damaging	Het
Strc	A	T	2: 121,207,844 (GRCm39)	F509Y	probably damaging	Het
Tas2r117	A	C	6: 132,780,281 (GRCm39)	T140P	probably damaging	Het
Tnxb	T	A	17: 34,928,509 (GRCm39)	I2641N	possibly damaging	Het
Tnxb	C	A	17: 34,929,077 (GRCm39)	P2707T	probably benign	Het
Vmn1r4	T	A	6: 56,933,515 (GRCm39)	N6K	probably benign	Het
Vmn1r91	T	A	7: 19,835,218 (GRCm39)	S46T	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Or9g20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Or9g20	APN	2	85,629,946 (GRCm39)	missense	probably benign	0.01
IGL02676:Or9g20	APN	2	85,629,934 (GRCm39)	missense	possibly damaging	0.55
R0279:Or9g20	UTSW	2	85,629,879 (GRCm39)	missense	possibly damaging	0.80
R2982:Or9g20	UTSW	2	85,629,694 (GRCm39)	missense	probably benign	0.12
R3708:Or9g20	UTSW	2	85,630,342 (GRCm39)	missense	probably benign	0.17
R4014:Or9g20	UTSW	2	85,629,820 (GRCm39)	missense	probably damaging	0.99
R4193:Or9g20	UTSW	2	85,630,362 (GRCm39)	missense	probably benign	0.39
R4593:Or9g20	UTSW	2	85,630,008 (GRCm39)	missense	probably damaging	1.00
R4772:Or9g20	UTSW	2	85,630,338 (GRCm39)	missense	probably damaging	1.00
R4816:Or9g20	UTSW	2	85,630,391 (GRCm39)	missense	probably benign
R4864:Or9g20	UTSW	2	85,630,033 (GRCm39)	missense	probably damaging	1.00
R5382:Or9g20	UTSW	2	85,630,492 (GRCm39)	missense	probably damaging	1.00
R5886:Or9g20	UTSW	2	85,630,147 (GRCm39)	missense	probably damaging	0.96
R6004:Or9g20	UTSW	2	85,629,726 (GRCm39)	missense	probably damaging	1.00
R7833:Or9g20	UTSW	2	85,630,293 (GRCm39)	missense	probably benign	0.20
R8113:Or9g20	UTSW	2	85,630,011 (GRCm39)	missense	probably damaging	1.00
R9034:Or9g20	UTSW	2	85,630,302 (GRCm39)	missense	possibly damaging	0.77
R9763:Or9g20	UTSW	2	85,630,060 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GATTCACCAAAGGAAGCAAGTC -3'
(R):5'- GATCTGCAATGACTCCAGGC -3'

Sequencing Primer
(F):5'- CTTGGTGATGATGGAAGAGT -3'
(R):5'- CATTGGAAATCTGTCTTTTCTGGATC -3'

Posted On

2020-09-15