Mutagenetix > Incidental Mutation

Incidental Mutation 'R5630:Or8g20'

442061

Institutional Source

Beutler Lab

Gene Symbol

Or8g20

Ensembl Gene

ENSMUSG00000062649

Gene Name

olfactory receptor family 8 subfamily G member 20

Synonyms

GA_x6K02T2PVTD-33181773-33180838, Olfr44, IB3, MOR171-5

MMRRC Submission

043281-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5630 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39395500-39405284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39396247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 98 (M98L)

Ref Sequence

ENSEMBL: ENSMUSP00000150827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077757] [ENSMUST00000215065] [ENSMUST00000216316]

AlphaFold

Q9EQB8

Predicted Effect

probably benign
Transcript: ENSMUST00000077757
AA Change: M101L

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

SMART Domains

Protein: ENSMUSP00000076935
Gene: ENSMUSG00000062649
AA Change: M101L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	4.1e-50	PFAM
Pfam:7tm_1	44	293	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215065
AA Change: M98L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000216316
AA Change: M98L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3s2	A	T	7: 79,559,647 (GRCm39)	V94E	probably damaging	Het
Aven	T	A	2: 112,344,890 (GRCm39)	Y109*	probably null	Het
Cad	T	C	5: 31,217,917 (GRCm39)	S401P	probably damaging	Het
Ccdc122	A	T	14: 77,330,216 (GRCm39)	I189F	probably damaging	Het
Cdkal1	A	T	13: 29,961,198 (GRCm39)		probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cnih4	C	G	1: 180,989,748 (GRCm39)	F120L	probably benign	Het
Cntnap5b	A	G	1: 99,999,794 (GRCm39)	D184G	probably damaging	Het
Cpa2	T	A	6: 30,550,731 (GRCm39)		probably null	Het
Cpne5	T	C	17: 29,445,190 (GRCm39)	D38G	probably damaging	Het
Dst	GGAATCGTGCACTCGAA	GGAA	1: 34,227,866 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,358,336 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,073,830 (GRCm39)	I239N	probably damaging	Het
Foxb1	T	A	9: 69,667,402 (GRCm39)	I43F	probably damaging	Het
Kcnq3	A	G	15: 65,896,971 (GRCm39)	W310R	probably damaging	Het
Klrb1a	A	T	6: 128,595,573 (GRCm39)	D60E	probably benign	Het
Lbr	A	G	1: 181,644,529 (GRCm39)		probably null	Het
Lsm8	T	A	6: 18,851,672 (GRCm39)	I41N	probably damaging	Het
Mroh7	T	C	4: 106,577,764 (GRCm39)	M305V	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p4	T	A	7: 107,680,323 (GRCm39)	F107L	probably benign	Het
Or8c10	T	C	9: 38,279,402 (GRCm39)	Y177H	probably damaging	Het
Pcdhb5	A	T	18: 37,454,208 (GRCm39)	D196V	possibly damaging	Het
Pcmt1	A	G	10: 7,524,857 (GRCm39)	Y84H	probably damaging	Het
Pcnx2	A	T	8: 126,587,697 (GRCm39)	I877K	probably damaging	Het
Pcsk5	A	G	19: 17,553,195 (GRCm39)	Y662H	probably benign	Het
Prdx1	T	A	4: 116,556,414 (GRCm39)	D187E	probably benign	Het
Ranbp2	T	G	10: 58,314,898 (GRCm39)	Y1873D	probably damaging	Het
Rcor2	A	T	19: 7,248,416 (GRCm39)	R144W	probably damaging	Het
Rptor	T	G	11: 119,647,075 (GRCm39)	I222S	probably benign	Het
Rrp8	C	A	7: 105,382,608 (GRCm39)	R448L	possibly damaging	Het
Ryr2	A	T	13: 11,616,691 (GRCm39)	I3909N	probably damaging	Het
Scn2a	T	G	2: 65,556,709 (GRCm39)	V1147G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Smox	C	T	2: 131,366,786 (GRCm39)	Q582*	probably null	Het
Sqor	T	A	2: 122,651,277 (GRCm39)	L180H	possibly damaging	Het
Stox2	T	C	8: 47,644,925 (GRCm39)	D845G	probably damaging	Het
Szt2	T	C	4: 118,250,102 (GRCm39)	I469V	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tox	C	CTGGAGT	4: 6,688,835 (GRCm39)		probably benign	Het
Trgc2	A	G	13: 19,489,279 (GRCm39)	F151S	possibly damaging	Het
Upf2	T	C	2: 6,032,112 (GRCm39)	V141A	probably damaging	Het
Usp54	A	G	14: 20,615,125 (GRCm39)	L772P	probably damaging	Het
Vmn2r83	A	T	10: 79,327,785 (GRCm39)	T798S	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp143	C	T	7: 109,687,980 (GRCm39)	T473I	probably damaging	Het

Other mutations in Or8g20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or8g20	APN	9	39,395,944 (GRCm39)	missense	probably benign	0.02
IGL02239:Or8g20	APN	9	39,395,857 (GRCm39)	missense	probably damaging	1.00
IGL02305:Or8g20	APN	9	39,396,333 (GRCm39)	missense	probably damaging	0.97
IGL02353:Or8g20	APN	9	39,396,444 (GRCm39)	missense	probably benign
IGL02360:Or8g20	APN	9	39,396,444 (GRCm39)	missense	probably benign
R0212:Or8g20	UTSW	9	39,396,384 (GRCm39)	missense	probably damaging	1.00
R0600:Or8g20	UTSW	9	39,396,284 (GRCm39)	missense	probably benign	0.34
R1329:Or8g20	UTSW	9	39,395,740 (GRCm39)	missense	probably damaging	0.97
R1348:Or8g20	UTSW	9	39,396,532 (GRCm39)	missense	probably benign
R1594:Or8g20	UTSW	9	39,396,042 (GRCm39)	missense	probably benign	0.03
R5017:Or8g20	UTSW	9	39,396,051 (GRCm39)	missense	possibly damaging	0.90
R5141:Or8g20	UTSW	9	39,395,827 (GRCm39)	missense	probably damaging	1.00
R5244:Or8g20	UTSW	9	39,395,808 (GRCm39)	missense	probably damaging	1.00
R5524:Or8g20	UTSW	9	39,396,283 (GRCm39)	missense	probably damaging	0.97
R5860:Or8g20	UTSW	9	39,395,767 (GRCm39)	missense	probably benign	0.07
R6444:Or8g20	UTSW	9	39,395,614 (GRCm39)	missense	probably benign	0.04
R6649:Or8g20	UTSW	9	39,396,048 (GRCm39)	missense	probably benign	0.02
R6653:Or8g20	UTSW	9	39,396,048 (GRCm39)	missense	probably benign	0.02
R7115:Or8g20	UTSW	9	39,395,944 (GRCm39)	missense	probably benign	0.02
R7595:Or8g20	UTSW	9	39,395,611 (GRCm39)	missense	probably benign	0.05
R7791:Or8g20	UTSW	9	39,396,177 (GRCm39)	missense	probably damaging	1.00
R8054:Or8g20	UTSW	9	39,396,033 (GRCm39)	missense	probably damaging	1.00
R9176:Or8g20	UTSW	9	39,396,247 (GRCm39)	missense	probably benign	0.00
R9640:Or8g20	UTSW	9	39,396,396 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTGTGTGAGCTGATGC -3'
(R):5'- AGAGAAGCCAGAACTCCAGCTG -3'

Sequencing Primer
(F):5'- TGCACAGATCACACCAATAATATAC -3'
(R):5'- CACTGTAGCAGGGAATTTGGGC -3'

Posted On

2016-11-08