Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Or5d16'

100116

Institutional Source

Beutler Lab

Gene Symbol

Or5d16

Ensembl Gene

ENSMUSG00000075145

Gene Name

olfactory receptor family 5 subfamily D member 16

Synonyms

Olfr1155, GA_x6K02T2Q125-49426894-49425950, MOR174-10

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87773026-87773970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87773490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 161 (L161F)

Ref Sequence

ENSEMBL: ENSMUSP00000149428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099843] [ENSMUST00000214641] [ENSMUST00000215903] [ENSMUST00000216191] [ENSMUST00000216726]

AlphaFold

Q8VFR3

Predicted Effect

probably benign
Transcript: ENSMUST00000099843
AA Change: L161F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097431
Gene: ENSMUSG00000075145
AA Change: L161F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	2.7e-44	PFAM
Pfam:7tm_1	43	292	5.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214641
AA Change: L161F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000215903
AA Change: L161F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000216191

Predicted Effect

probably benign
Transcript: ENSMUST00000216726

Meta Mutation Damage Score

0.1661

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	Het

Other mutations in Or5d16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02507:Or5d16	APN	2	87,773,262 (GRCm39)	nonsense	probably null
IGL03245:Or5d16	APN	2	87,773,086 (GRCm39)	missense	possibly damaging	0.75
B5639:Or5d16	UTSW	2	87,773,942 (GRCm39)	missense	probably benign	0.03
PIT4531001:Or5d16	UTSW	2	87,773,571 (GRCm39)	missense	probably damaging	1.00
R0212:Or5d16	UTSW	2	87,773,435 (GRCm39)	missense	probably damaging	1.00
R0393:Or5d16	UTSW	2	87,773,909 (GRCm39)	missense	possibly damaging	0.62
R1180:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R1181:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R1266:Or5d16	UTSW	2	87,773,877 (GRCm39)	missense	probably benign	0.01
R1847:Or5d16	UTSW	2	87,773,065 (GRCm39)	splice site	probably null
R1998:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R2000:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R4119:Or5d16	UTSW	2	87,773,787 (GRCm39)	missense	probably damaging	1.00
R4213:Or5d16	UTSW	2	87,773,465 (GRCm39)	missense	probably benign	0.00
R5157:Or5d16	UTSW	2	87,773,232 (GRCm39)	missense	probably benign
R5688:Or5d16	UTSW	2	87,773,552 (GRCm39)	missense	probably benign	0.02
R5731:Or5d16	UTSW	2	87,773,771 (GRCm39)	missense	possibly damaging	0.89
R6064:Or5d16	UTSW	2	87,773,828 (GRCm39)	missense	probably benign	0.00
R6372:Or5d16	UTSW	2	87,773,319 (GRCm39)	missense	probably benign	0.00
R6505:Or5d16	UTSW	2	87,773,518 (GRCm39)	nonsense	probably null
R6555:Or5d16	UTSW	2	87,773,632 (GRCm39)	missense	probably damaging	1.00
R6909:Or5d16	UTSW	2	87,773,034 (GRCm39)	missense	probably benign	0.27
R7257:Or5d16	UTSW	2	87,773,915 (GRCm39)	missense	probably damaging	1.00
R8037:Or5d16	UTSW	2	87,773,319 (GRCm39)	missense	probably benign	0.00
R8367:Or5d16	UTSW	2	87,773,441 (GRCm39)	missense	possibly damaging	0.75
R9301:Or5d16	UTSW	2	87,773,297 (GRCm39)	missense	probably benign	0.00
Z1088:Or5d16	UTSW	2	87,773,792 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5d16	UTSW	2	87,773,811 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5d16	UTSW	2	87,773,553 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

Posted On

2014-01-15