Mutagenetix > Incidental Mutation

Incidental Mutation 'R1921:Or8b38'

213067

Institutional Source

Beutler Lab

Gene Symbol

Or8b38

Ensembl Gene

ENSMUSG00000096424

Gene Name

olfactory receptor family 8 subfamily B member 38

Synonyms

MOR162-12, GA_x6K02T2PVTD-31740639-31741568, Olfr885

MMRRC Submission

039939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37972618-37973547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37972981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 122 (Y122H)

Ref Sequence

ENSEMBL: ENSMUSP00000080646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081985]

AlphaFold

Q7TRE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000081985
AA Change: Y122H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080646
Gene: ENSMUSG00000096424
AA Change: Y122H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	3.9e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	224	1.1e-5	PFAM
Pfam:7tm_1	41	288	7.5e-24	PFAM

Meta Mutation Damage Score

0.4314

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abhd2	T	C	7: 78,998,104 (GRCm39)	I212T	possibly damaging	Het
Adam7	A	C	14: 68,750,074 (GRCm39)	S449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Atp11b	T	C	3: 35,888,474 (GRCm39)	Y715H	probably damaging	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
Btbd7	A	G	12: 102,760,055 (GRCm39)	I631T	probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Cptp	C	T	4: 155,950,995 (GRCm39)	R157H	probably damaging	Het
Dcbld1	A	C	10: 52,195,747 (GRCm39)	E318D	possibly damaging	Het
Ddr2	G	T	1: 169,831,814 (GRCm39)	P197Q	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dlgap2	A	G	8: 14,893,624 (GRCm39)	K980E	probably benign	Het
Drc7	T	C	8: 95,782,644 (GRCm39)	V3A	unknown	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
Ect2l	T	C	10: 18,018,752 (GRCm39)	D548G	possibly damaging	Het
Efcab10	A	T	12: 33,448,434 (GRCm39)	Y89F	probably benign	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,732 (GRCm39)	T147A	probably damaging	Het
Fbxl5	T	A	5: 43,922,832 (GRCm39)	E189D	probably benign	Het
Fer1l6	T	A	15: 58,497,080 (GRCm39)	S1217T	probably damaging	Het
Frem2	A	T	3: 53,560,916 (GRCm39)	V1197D	possibly damaging	Het
Fsip2	T	A	2: 82,811,127 (GRCm39)	L2482*	probably null	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Hoxb1	T	A	11: 96,256,938 (GRCm39)	Y96N	probably damaging	Het
Ibsp	A	G	5: 104,458,078 (GRCm39)	E205G	probably damaging	Het
Ibtk	A	G	9: 85,585,135 (GRCm39)	S1170P	probably benign	Het
Igfn1	A	G	1: 135,893,801 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,639,877 (GRCm39)	S954P	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Lrmda	T	C	14: 22,627,938 (GRCm39)	F52L	probably damaging	Het
Lrp2	T	C	2: 69,353,631 (GRCm39)	D543G	probably damaging	Het
Lrrtm3	T	C	10: 63,924,157 (GRCm39)	T337A	probably benign	Het
Marf1	C	T	16: 13,946,465 (GRCm39)	D1219N	possibly damaging	Het
Mkln1	A	G	6: 31,405,113 (GRCm39)	K118R	probably benign	Het
Nedd4l	T	C	18: 65,300,646 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,525,023 (GRCm39)	E336G	probably benign	Het
Nfasc	A	G	1: 132,538,543 (GRCm39)	F448S	probably damaging	Het
Nlrx1	C	A	9: 44,165,431 (GRCm39)	E822*	probably null	Het
Nr5a1	T	C	2: 38,584,108 (GRCm39)	Y437C	probably damaging	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Phtf1	C	T	3: 103,876,438 (GRCm39)	Q13*	probably null	Het
Pnldc1	A	G	17: 13,107,815 (GRCm39)	L525P	possibly damaging	Het
Ppl	T	A	16: 4,923,988 (GRCm39)	D162V	possibly damaging	Het
Prkdc	T	A	16: 15,532,079 (GRCm39)	S1448T	possibly damaging	Het
Ptgdr	A	G	14: 45,090,738 (GRCm39)	I340T	probably benign	Het
Recql	T	C	6: 142,311,315 (GRCm39)	I458M	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Ryr1	A	G	7: 28,754,369 (GRCm39)	M3523T	probably damaging	Het
S100a16	T	C	3: 90,449,703 (GRCm39)	L62P	probably damaging	Het
Samd11	T	C	4: 156,333,166 (GRCm39)	E364G	probably damaging	Het
Satb1	C	A	17: 52,049,143 (GRCm39)	G603*	probably null	Het
Shroom3	T	A	5: 93,110,224 (GRCm39)		probably null	Het
Slc25a15	A	G	8: 22,885,777 (GRCm39)	S3P	probably benign	Het
Socs2	A	T	10: 95,248,900 (GRCm39)	L71*	probably null	Het
Sptbn1	T	C	11: 30,054,469 (GRCm39)	E2208G	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Susd1	T	A	4: 59,412,191 (GRCm39)	T121S	probably benign	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	G	10: 23,837,239 (GRCm39)	D283G	probably damaging	Het
Tango6	T	A	8: 107,415,426 (GRCm39)	D82E	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tle3	G	A	9: 61,318,622 (GRCm39)		probably null	Het
Tmem45a	A	G	16: 56,642,665 (GRCm39)	F169L	probably benign	Het
Trp53rkb	T	A	2: 166,637,743 (GRCm39)	V233E	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubgcp3	A	T	8: 12,671,932 (GRCm39)	L770*	probably null	Het
Tut1	G	A	19: 8,943,466 (GRCm39)	G851D	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vmn1r125	T	A	7: 21,006,530 (GRCm39)	Y143N	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r95	T	A	17: 18,644,575 (GRCm39)	N70K	probably benign	Het
Vps35l	A	G	7: 118,432,971 (GRCm39)	N568S	probably damaging	Het
Wdr59	A	T	8: 112,213,582 (GRCm39)	L311*	probably null	Het
Wnt2	A	G	6: 18,030,252 (GRCm39)	L12P	unknown	Het
Xrn1	T	C	9: 95,881,550 (GRCm39)	I700T	probably benign	Het
Ypel1	A	G	16: 16,900,443 (GRCm39)	H98R	probably benign	Het
Zfp219	T	C	14: 52,245,691 (GRCm39)	T434A	probably benign	Het
Zik1	A	C	7: 10,223,943 (GRCm39)	C385G	probably damaging	Het

Other mutations in Or8b38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Or8b38	APN	9	37,973,300 (GRCm39)	missense	possibly damaging	0.58
IGL02441:Or8b38	APN	9	37,973,233 (GRCm39)	missense	probably benign	0.02
IGL03263:Or8b38	APN	9	37,973,009 (GRCm39)	missense	probably damaging	0.98
R1748:Or8b38	UTSW	9	37,972,796 (GRCm39)	missense	probably damaging	1.00
R1870:Or8b38	UTSW	9	37,972,646 (GRCm39)	missense	probably benign	0.24
R1920:Or8b38	UTSW	9	37,972,981 (GRCm39)	missense	probably damaging	1.00
R1922:Or8b38	UTSW	9	37,972,981 (GRCm39)	missense	probably damaging	1.00
R4073:Or8b38	UTSW	9	37,973,165 (GRCm39)	missense	probably damaging	1.00
R4727:Or8b38	UTSW	9	37,973,389 (GRCm39)	missense	probably damaging	1.00
R4945:Or8b38	UTSW	9	37,973,068 (GRCm39)	missense	probably damaging	1.00
R4950:Or8b38	UTSW	9	37,973,297 (GRCm39)	missense	probably damaging	1.00
R5116:Or8b38	UTSW	9	37,972,634 (GRCm39)	missense	probably benign
R5233:Or8b38	UTSW	9	37,973,446 (GRCm39)	missense	probably damaging	0.96
R5923:Or8b38	UTSW	9	37,973,154 (GRCm39)	missense	probably benign	0.08
R6668:Or8b38	UTSW	9	37,973,066 (GRCm39)	missense	possibly damaging	0.83
R8035:Or8b38	UTSW	9	37,972,961 (GRCm39)	missense	probably damaging	0.99
R9392:Or8b38	UTSW	9	37,973,195 (GRCm39)	missense	probably benign	0.01
R9481:Or8b38	UTSW	9	37,972,707 (GRCm39)	missense	probably benign	0.01
RF020:Or8b38	UTSW	9	37,972,620 (GRCm39)	start codon destroyed	probably null	0.01

Predicted Primers

PCR Primer
(F):5'- GTTGAATCCTCACCTGCACAC -3'
(R):5'- TCATTGATGGAGGTACTTGAGC -3'

Sequencing Primer
(F):5'- GCACACCCCCATGTACTACTTTC -3'
(R):5'- AGTTTAAGGAGAGGATGTACATCAC -3'

Posted On

2014-07-14