Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Or5d16'

538906

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

045001-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R6909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87773026-87773970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87773034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 313 (S313P)

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: S313P

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097431
Gene: ENSMUSG00000075145
AA Change: S313P

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: S313P

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215903
AA Change: S313P

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216191

Predicted Effect

probably benign
Transcript: ENSMUST00000216726

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,006,323 (GRCm39)	Q1261K	probably benign	Het
Acp3	T	C	9: 104,178,164 (GRCm39)	Y329C	probably damaging	Het
Agrn	G	T	4: 156,261,464 (GRCm39)	H585N	possibly damaging	Het
Ano1	G	A	7: 144,209,468 (GRCm39)	T211M	probably damaging	Het
Atic	T	G	1: 71,616,005 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,957,781 (GRCm39)	S229R	probably damaging	Het
Ccdc168	C	T	1: 44,098,935 (GRCm39)	R721Q	possibly damaging	Het
Cfap210	A	T	2: 69,612,192 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,425,815 (GRCm39)	Y418C	probably damaging	Het
Cibar1	T	C	4: 12,168,309 (GRCm39)	T97A	probably benign	Het
Cmya5	T	C	13: 93,227,760 (GRCm39)	T2443A	probably benign	Het
Dysf	A	T	6: 84,169,920 (GRCm39)	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,472,899 (GRCm39)	L107*	probably null	Het
Fpr3	T	A	17: 18,191,429 (GRCm39)	F233L	probably benign	Het
Gjc2	A	T	11: 59,067,918 (GRCm39)	V188E	unknown	Het
Gm45861	T	A	8: 28,017,109 (GRCm39)	Y690N	unknown	Het
Gsdma2	T	A	11: 98,543,383 (GRCm39)	C224*	probably null	Het
Gucy2d	T	A	7: 98,116,832 (GRCm39)	Y881N	probably damaging	Het
Hcn3	A	G	3: 89,059,936 (GRCm39)		probably null	Het
Hectd1	G	T	12: 51,810,945 (GRCm39)		probably null	Het
Ifitm5	A	G	7: 140,529,172 (GRCm39)	F146L	probably benign	Het
Impg2	T	C	16: 56,024,947 (GRCm39)	F18S	probably damaging	Het
Ino80c	T	A	18: 24,241,812 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,569,915 (GRCm39)	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,960,381 (GRCm39)		probably null	Het
Klra8	T	G	6: 130,102,123 (GRCm39)	N104T	probably benign	Het
Llgl2	G	A	11: 115,741,625 (GRCm39)	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,157 (GRCm39)	D377E	probably benign	Het
Lrat	G	A	3: 82,810,961 (GRCm39)	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,638,482 (GRCm39)	H363Q	probably benign	Het
Lyst	T	G	13: 13,917,960 (GRCm39)	I3340S	probably damaging	Het
Magi1	C	A	6: 93,674,301 (GRCm39)	G948W	probably damaging	Het
Map3k4	A	C	17: 12,489,872 (GRCm39)	F520V	probably damaging	Het
Mcm4	A	T	16: 15,446,561 (GRCm39)	N607K	probably damaging	Het
Mta3	T	C	17: 84,073,980 (GRCm39)	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,220,312 (GRCm39)	G2131V	probably damaging	Het
Or10ag2	A	G	2: 87,248,959 (GRCm39)	H189R	probably damaging	Het
Or2z9	T	A	8: 72,854,372 (GRCm39)	V256E	possibly damaging	Het
Or9k7	T	A	10: 130,046,622 (GRCm39)	I126L	probably benign	Het
Pramel12	T	C	4: 143,144,479 (GRCm39)	L275P	probably damaging	Het
Ptpn2	A	T	18: 67,809,041 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,856 (GRCm39)	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,481,604 (GRCm39)	S622T	probably benign	Het
Sim1	C	T	10: 50,785,506 (GRCm39)	R192C	possibly damaging	Het
Skor2	A	G	18: 76,948,252 (GRCm39)	H658R	possibly damaging	Het
Slc10a5	A	G	3: 10,400,655 (GRCm39)	S2P	possibly damaging	Het
Slc37a4	A	T	9: 44,311,331 (GRCm39)	K207N	possibly damaging	Het
Syne2	G	T	12: 76,110,969 (GRCm39)	V5768L	probably benign	Het
Tdpoz3	T	A	3: 93,733,772 (GRCm39)	V149E	probably damaging	Het
Tekt5	T	C	16: 10,176,165 (GRCm39)	N460S	probably damaging	Het
Tk2	G	T	8: 104,963,442 (GRCm39)	Y142*	probably null	Het
Tkfc	T	A	19: 10,573,630 (GRCm39)	Q236L	probably benign	Het
Tln2	G	A	9: 67,299,814 (GRCm39)	T148I	probably damaging	Het
Trim62	A	G	4: 128,778,021 (GRCm39)	D20G	probably damaging	Het
Tspan14	A	C	14: 40,635,398 (GRCm39)	V166G	probably benign	Het
Ttn	A	T	2: 76,712,065 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Zfp87	T	C	13: 74,519,861 (GRCm39)	T406A	possibly damaging	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
R1178:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
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
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

PCR Primer
(F):5'- CCTAACACAGTATCATCTTTTGGTC -3'
(R):5'- GCTTCCCATATGACAGCCATC -3'

Sequencing Primer
(F):5'- ATGCCCAGTTCATTCACT -3'
(R):5'- ATGACAGCCATCACTATCTTCCATGG -3'

Posted On

2018-11-06