Mutagenetix > Incidental Mutation

Incidental Mutation 'R3928:Or8c16'

308375

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

040823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38130114-38131062 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 38130131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000148501 (fasta)

Gene Model

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

AlphaFold

Q9EQB2

Predicted Effect

probably benign
Transcript: ENSMUST00000093866
AA Change: M4T

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

SMART Domains

Protein: ENSMUSP00000091389
Gene: ENSMUSG00000070311
AA Change: M4T

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: M1T

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,359,561 (GRCm39)	H181Q	probably benign	Het
Atrx	T	C	X: 104,923,523 (GRCm39)	I157V	possibly damaging	Het
Birc6	A	G	17: 74,918,170 (GRCm39)	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,945,404 (GRCm39)	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,552,155 (GRCm39)	F108S	probably damaging	Het
Clasp2	C	A	9: 113,735,173 (GRCm39)	H1004N	probably benign	Het
Cntd1	G	A	11: 101,178,345 (GRCm39)	V315I	probably benign	Het
Col13a1	A	G	10: 61,703,304 (GRCm39)		probably benign	Het
Ctps1	T	A	4: 120,399,093 (GRCm39)	H553L	probably benign	Het
Dpysl2	A	G	14: 67,061,880 (GRCm39)	I242T	possibly damaging	Het
Exoc3l	C	T	8: 106,017,549 (GRCm39)		probably benign	Het
Fam229a	A	G	4: 129,385,204 (GRCm39)		probably benign	Het
Fshr	C	T	17: 89,292,962 (GRCm39)	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267 (GRCm39)		noncoding transcript	Het
Gmpr	A	G	13: 45,683,223 (GRCm39)	I165V	probably benign	Het
Gnat3	G	A	5: 18,208,892 (GRCm39)		probably benign	Het
H1f8	A	G	6: 115,925,757 (GRCm39)	K185E	probably benign	Het
H2-Q4	T	G	17: 35,598,666 (GRCm39)	L16R	unknown	Het
Hs2st1	T	C	3: 144,140,389 (GRCm39)	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,097,368 (GRCm39)	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,461,441 (GRCm39)	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Lmntd2	C	T	7: 140,791,117 (GRCm39)	G432S	probably damaging	Het
Me3	T	C	7: 89,482,898 (GRCm39)		probably benign	Het
Myo1d	G	T	11: 80,375,087 (GRCm39)	R996S	probably benign	Het
Myo9a	T	A	9: 59,802,566 (GRCm39)	W2018R	probably damaging	Het
Nphp3	G	T	9: 103,888,929 (GRCm39)	V265F	probably damaging	Het
Or10ak9	T	C	4: 118,726,179 (GRCm39)	L66P	probably damaging	Het
Or5p67	A	G	7: 107,922,232 (GRCm39)	I217T	probably benign	Het
Pgp	A	G	17: 24,690,315 (GRCm39)	E247G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plch1	G	A	3: 63,675,044 (GRCm39)	A202V	probably damaging	Het
Rbm11	G	A	16: 75,389,932 (GRCm39)		probably null	Het
Scg5	T	C	2: 113,622,230 (GRCm39)	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,285,916 (GRCm39)	H357L	probably damaging	Het
St6gal2	A	G	17: 55,803,324 (GRCm39)	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,734,216 (GRCm39)	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,128,348 (GRCm39)	T136I	probably benign	Het
Tfcp2l1	T	A	1: 118,597,206 (GRCm39)	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Top1	T	C	2: 160,529,669 (GRCm39)		probably benign	Het
Trim61	A	G	8: 65,465,969 (GRCm39)	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647 (GRCm39)	G150S	probably damaging	Het
Vmn1r183	T	C	7: 23,754,997 (GRCm39)	S267P	probably damaging	Het
Xirp2	T	A	2: 67,342,013 (GRCm39)	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 23,880,467 (GRCm39)	V271A	possibly damaging	Het
Zfp710	A	G	7: 79,731,134 (GRCm39)	R104G	probably damaging	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
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
R9256:Or8c16	UTSW	9	38,130,498 (GRCm39)	nonsense	probably null
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'- TCTAGACAGCTAAACAAATCATGGG -3'
(R):5'- AGCTGAGTCATGCATCCTCTG -3'

Sequencing Primer
(F):5'- CAGCTAAACAAATCATGGGTAGGG -3'
(R):5'- CAGCATTTTTGGGGTAAAGACC -3'

Posted On

2015-04-17