Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Or8c16'

701875

Institutional Source

Beutler Lab

Gene Symbol

Or8c16

Ensembl Gene

ENSMUSG00000070311

Gene Name

olfactory receptor family 8 subfamily C member 16

Synonyms

Olfr894, MOR170-5, GA_x6K02T2PVTD-31898993-31899934

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38130114-38131062 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38130498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 123 (Y123*)

Ref Sequence

ENSEMBL: ENSMUSP00000148501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093866] [ENSMUST00000212992]

AlphaFold

Q9EQB2

Predicted Effect

probably null
Transcript: ENSMUST00000093866
AA Change: Y126*

SMART Domains

Protein: ENSMUSP00000091389
Gene: ENSMUSG00000070311
AA Change: Y126*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	8.8e-47	PFAM
Pfam:7tm_1	44	293	1.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000212992
AA Change: Y123*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Crnkl1	A	G	2: 145,770,216 (GRCm39)	V209A	possibly damaging	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,574,407 (GRCm39)	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sdr39u1	C	A	14: 56,135,209 (GRCm39)	V245F	probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,325,721 (GRCm39)	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zdhhc8	G	A	16: 18,042,686 (GRCm39)	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	probably benign	Het

Other mutations in Or8c16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or8c16	APN	9	38,131,039 (GRCm39)	missense	probably benign	0.18
IGL01772:Or8c16	APN	9	38,130,905 (GRCm39)	missense	probably damaging	0.97
IGL02253:Or8c16	APN	9	38,131,031 (GRCm39)	missense	probably benign	0.01
IGL02279:Or8c16	APN	9	38,130,389 (GRCm39)	missense	probably benign	0.00
IGL03031:Or8c16	APN	9	38,130,361 (GRCm39)	missense	probably damaging	0.99
IGL03163:Or8c16	APN	9	38,130,710 (GRCm39)	missense	probably benign	0.00
R0417:Or8c16	UTSW	9	38,130,751 (GRCm39)	missense	probably benign	0.01
R0458:Or8c16	UTSW	9	38,130,344 (GRCm39)	missense	probably damaging	0.97
R1498:Or8c16	UTSW	9	38,130,676 (GRCm39)	missense	probably damaging	1.00
R1765:Or8c16	UTSW	9	38,130,548 (GRCm39)	missense	probably benign	0.01
R2020:Or8c16	UTSW	9	38,130,728 (GRCm39)	missense	possibly damaging	0.47
R2282:Or8c16	UTSW	9	38,130,124 (GRCm39)	missense	probably benign	0.01
R3928:Or8c16	UTSW	9	38,130,131 (GRCm39)	start codon destroyed	probably null	0.63
R4716:Or8c16	UTSW	9	38,130,714 (GRCm39)	missense	probably damaging	0.99
R4911:Or8c16	UTSW	9	38,130,392 (GRCm39)	missense	probably damaging	0.99
R5148:Or8c16	UTSW	9	38,130,317 (GRCm39)	missense	probably benign	0.01
R7677:Or8c16	UTSW	9	38,130,324 (GRCm39)	missense	probably damaging	1.00
R7971:Or8c16	UTSW	9	38,130,843 (GRCm39)	missense	probably benign	0.00
R8219:Or8c16	UTSW	9	38,130,668 (GRCm39)	missense	probably damaging	0.98
R8754:Or8c16	UTSW	9	38,130,865 (GRCm39)	missense	possibly damaging	0.56
R9248:Or8c16	UTSW	9	38,130,706 (GRCm39)	missense	probably benign	0.04
R9352:Or8c16	UTSW	9	38,130,683 (GRCm39)	missense	probably damaging	1.00
R9593:Or8c16	UTSW	9	38,130,868 (GRCm39)	missense	probably benign	0.20
X0050:Or8c16	UTSW	9	38,130,446 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTAATGGGCAACTTGAGC -3'
(R):5'- ACGTGCTACTACAGGAGAGC -3'

Sequencing Primer
(F):5'- GGGCAACTTGAGCTTAATGAATCTC -3'
(R):5'- TGCTACTACAGGAGAGCTGGAG -3'

Posted On

2022-03-25