Mutagenetix > Incidental Mutation

Incidental Mutation 'R6653:Or8g20'

526514

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

044774-MU

Accession Numbers

Essential gene?

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

Stock #

R6653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39395500-39405284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39396048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 164 (V164A)

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: V167A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000076935
Gene: ENSMUSG00000062649
AA Change: V167A

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: V164A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216316
AA Change: V164A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,945,229 (GRCm39)	L435R	probably benign	Het
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Ankrd50	T	A	3: 38,511,510 (GRCm39)	I286F	probably damaging	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
B4galnt2	T	A	11: 95,782,747 (GRCm39)	M22L	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh4	C	T	2: 179,422,221 (GRCm39)	A115V	probably benign	Het
Cfap53	A	G	18: 74,433,280 (GRCm39)	T122A	probably damaging	Het
Chsy1	A	G	7: 65,759,941 (GRCm39)	K95E	probably benign	Het
Csde1	C	A	3: 102,960,184 (GRCm39)	P604T	probably damaging	Het
Cts7	A	T	13: 61,502,817 (GRCm39)	L237Q	probably damaging	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eif2b4	C	T	5: 31,349,551 (GRCm39)	E53K	possibly damaging	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fcamr	A	G	1: 130,740,939 (GRCm39)	T453A	possibly damaging	Het
Glb1l3	T	C	9: 26,770,884 (GRCm39)	T61A	probably benign	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hephl1	C	T	9: 14,993,260 (GRCm39)	V525I	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kbtbd4	T	A	2: 90,740,113 (GRCm39)	Y499*	probably null	Het
Kif1a	A	T	1: 93,005,420 (GRCm39)	I118N	probably damaging	Het
Klhdc7b	A	G	15: 89,271,292 (GRCm39)	S725G	probably benign	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Myo7a	T	A	7: 97,703,710 (GRCm39)	Y1977F	probably damaging	Het
Naip2	T	G	13: 100,298,352 (GRCm39)	K561N	probably benign	Het
Naip2	C	T	13: 100,288,644 (GRCm39)	V1194I	probably benign	Het
Nkx2-4	G	T	2: 146,925,860 (GRCm39)	A334E	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Pcdha7	A	G	18: 37,107,539 (GRCm39)	Q188R	probably benign	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phip	C	A	9: 82,782,794 (GRCm39)	E884*	probably null	Het
Plxnc1	C	A	10: 94,779,738 (GRCm39)	V235L	probably damaging	Het
Qser1	A	G	2: 104,610,605 (GRCm39)	V1226A	possibly damaging	Het
Ros1	G	T	10: 52,018,299 (GRCm39)	S786R	probably damaging	Het
Rps6ka5	A	G	12: 100,517,795 (GRCm39)	S769P	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Specc1	T	G	11: 62,037,244 (GRCm39)	S813A	probably damaging	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Tmem44	T	C	16: 30,356,369 (GRCm39)	D110G	probably damaging	Het
Ubn2	A	G	6: 38,411,397 (GRCm39)	E97G	possibly damaging	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Usp25	T	A	16: 76,856,176 (GRCm39)	N256K	probably benign	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Wnt2b	C	A	3: 104,860,502 (GRCm39)	R135L	probably damaging	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	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
R5630:Or8g20	UTSW	9	39,396,247 (GRCm39)	missense	probably benign	0.00
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
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'- GGCTTTAGACCTGCCTTCAG -3'
(R):5'- TCCTCATATTTGCAATTGCGG -3'

Sequencing Primer
(F):5'- TTAGACCTGCCTTCAGTGGAGC -3'
(R):5'- CATATTTGCAATTGCGGAGTGTTAC -3'

Posted On

2018-07-23