Mutagenetix > Incidental Mutation

Incidental Mutation 'R1746:Or8g28'

193991

Institutional Source

Beutler Lab

Gene Symbol

Or8g28

Ensembl Gene

ENSMUSG00000063380

Gene Name

olfactory receptor family 8 subfamily G member 28

Synonyms

MOR171-20, Olfr945, GA_x6K02T2PVTD-32955932-32954982

MMRRC Submission

039778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39169016-39169975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39169498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 157 (S157P)

Ref Sequence

ENSEMBL: ENSMUSP00000151086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076903] [ENSMUST00000216698]

AlphaFold

Q9EQB5

Predicted Effect

probably benign
Transcript: ENSMUST00000076903
AA Change: S160P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076169
Gene: ENSMUSG00000063380
AA Change: S160P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.2e-50	PFAM
Pfam:7tm_1	44	293	2.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216698
AA Change: S157P

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

Meta Mutation Damage Score

0.1691

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,927,717 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aknad1	A	G	3: 108,659,099 (GRCm39)	T38A	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap21	T	C	2: 20,865,910 (GRCm39)	E902G	probably damaging	Het
Atg2b	A	G	12: 105,635,588 (GRCm39)	S227P	possibly damaging	Het
Atp2c2	C	T	8: 120,461,182 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,260,864 (GRCm39)	V203A	probably damaging	Het
Chd9	A	C	8: 91,737,326 (GRCm39)	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Col4a2	G	A	8: 11,496,020 (GRCm39)	G1547D	probably benign	Het
Cul1	A	G	6: 47,485,179 (GRCm39)	E270G	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,888,933 (GRCm39)	T857K	probably benign	Het
Ednra	T	G	8: 78,398,211 (GRCm39)	T279P	probably benign	Het
Erbin	A	G	13: 103,987,339 (GRCm39)	I407T	probably damaging	Het
Fggy	A	G	4: 95,814,965 (GRCm39)	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,747,566 (GRCm39)	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,350,140 (GRCm39)	I357T	probably benign	Het
Gulp1	A	G	1: 44,793,513 (GRCm39)	H58R	possibly damaging	Het
Hid1	A	T	11: 115,245,464 (GRCm39)	V446E	probably damaging	Het
Igfn1	A	G	1: 135,897,561 (GRCm39)	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,675,118 (GRCm39)		probably null	Het
Kmt2d	A	C	15: 98,762,259 (GRCm39)	L409R	probably damaging	Het
Ltn1	A	C	16: 87,208,669 (GRCm39)	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,836,648 (GRCm39)	Q721*	probably null	Het
Nae1	A	G	8: 105,254,017 (GRCm39)	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,021,503 (GRCm39)	V83M	probably damaging	Het
Nrg2	G	A	18: 36,154,975 (GRCm39)	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,221,789 (GRCm39)	M150V	possibly damaging	Het
Or5p52	C	A	7: 107,502,093 (GRCm39)	H56Q	probably benign	Het
Papola	T	A	12: 105,773,468 (GRCm39)	D162E	probably benign	Het
Plxnc1	T	C	10: 94,680,041 (GRCm39)		probably null	Het
Ppp1r16b	T	A	2: 158,588,585 (GRCm39)		probably null	Het
Ptprq	T	A	10: 107,474,691 (GRCm39)	E1338V	probably damaging	Het
Puf60	G	A	15: 75,942,633 (GRCm39)	H437Y	probably benign	Het
Qsox2	C	T	2: 26,110,650 (GRCm39)	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,507,776 (GRCm39)	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,333,237 (GRCm39)		probably null	Het
Rfpl4b	C	T	10: 38,697,049 (GRCm39)	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Scara5	A	C	14: 65,968,539 (GRCm39)	M271L	probably benign	Het
Sel1l2	A	G	2: 140,127,157 (GRCm39)	L118P	probably damaging	Het
Sema6a	T	A	18: 47,439,416 (GRCm39)		probably benign	Het
Siglech	T	A	7: 55,418,252 (GRCm39)	H73Q	probably benign	Het
Sim1	A	G	10: 50,860,205 (GRCm39)	D689G	probably benign	Het
Skp2	T	C	15: 9,139,530 (GRCm39)	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,871,869 (GRCm39)	V114E	probably benign	Het
Slc26a6	G	A	9: 108,738,916 (GRCm39)	G614D	probably benign	Het
Sptbn2	C	T	19: 4,795,992 (GRCm39)	Q1724*	probably null	Het
Tet3	T	C	6: 83,345,050 (GRCm39)	T1796A	probably damaging	Het
Tmem117	A	C	15: 94,829,714 (GRCm39)	D183A	possibly damaging	Het
Trmt44	A	G	5: 35,721,403 (GRCm39)	S587P	probably benign	Het
Ttn	G	T	2: 76,619,166 (GRCm39)		probably benign	Het
Tubgcp5	G	A	7: 55,458,285 (GRCm39)	V399M	probably benign	Het
Txndc2	T	A	17: 65,945,130 (GRCm39)	D349V	probably damaging	Het
Uggt2	T	A	14: 119,250,915 (GRCm39)	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,593,329 (GRCm39)	I53L	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het

Other mutations in Or8g28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Or8g28	APN	9	39,169,559 (GRCm39)	missense	probably damaging	1.00
IGL01773:Or8g28	APN	9	39,169,830 (GRCm39)	missense	probably damaging	0.96
IGL02869:Or8g28	APN	9	39,169,520 (GRCm39)	nonsense	probably null
IGL03245:Or8g28	APN	9	39,169,294 (GRCm39)	missense	probably damaging	0.99
K3955:Or8g28	UTSW	9	39,169,926 (GRCm39)	missense	probably damaging	1.00
R1710:Or8g28	UTSW	9	39,169,867 (GRCm39)	missense	probably benign	0.07
R1820:Or8g28	UTSW	9	39,169,695 (GRCm39)	missense	possibly damaging	0.74
R3410:Or8g28	UTSW	9	39,169,897 (GRCm39)	missense	possibly damaging	0.75
R4091:Or8g28	UTSW	9	39,169,330 (GRCm39)	missense	possibly damaging	0.76
R4625:Or8g28	UTSW	9	39,169,614 (GRCm39)	missense	probably damaging	1.00
R6475:Or8g28	UTSW	9	39,169,378 (GRCm39)	missense	probably benign	0.00
R7114:Or8g28	UTSW	9	39,169,897 (GRCm39)	missense	possibly damaging	0.75
R7500:Or8g28	UTSW	9	39,169,762 (GRCm39)	missense	probably benign	0.03
R7545:Or8g28	UTSW	9	39,169,984 (GRCm39)	critical splice acceptor site	probably null
R7850:Or8g28	UTSW	9	39,169,518 (GRCm39)	missense	possibly damaging	0.94
R8263:Or8g28	UTSW	9	39,169,899 (GRCm39)	missense	probably damaging	1.00
R8477:Or8g28	UTSW	9	39,169,099 (GRCm39)	missense	probably damaging	1.00
R9466:Or8g28	UTSW	9	39,169,491 (GRCm39)	missense	possibly damaging	0.57
R9554:Or8g28	UTSW	9	39,169,756 (GRCm39)	missense	possibly damaging	0.81
R9577:Or8g28	UTSW	9	39,169,737 (GRCm39)	missense	possibly damaging	0.81
Z1088:Or8g28	UTSW	9	39,169,167 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCCCTGGAGCGAATGTGGAAGATG -3'
(R):5'- GGTGAGCTTTCTGACGGAGAAGAAC -3'

Sequencing Primer
(F):5'- CGAATGTGGAAGATGCTTGC -3'
(R):5'- GATGCATGGCTCAGCTCTAC -3'

Posted On

2014-05-23