Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Or6d14'

534857

Institutional Source

Beutler Lab

Gene Symbol

Or6d14

Ensembl Gene

ENSMUSG00000051046

Gene Name

olfactory receptor family 6 subfamily D member 14

Synonyms

Olfr214, GA_x54KRFPKN04-58190962-58191900, MOR119-1

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R6848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116533388-116534350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116533736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 117 (S117P)

Ref Sequence

ENSEMBL: ENSMUSP00000150737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060204] [ENSMUST00000122096] [ENSMUST00000203867] [ENSMUST00000214699] [ENSMUST00000215846] [ENSMUST00000217313]

AlphaFold

Q8VG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060204
AA Change: S117P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052730
Gene: ENSMUSG00000051046
AA Change: S117P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	316	4.7e-47	PFAM
Pfam:7tm_1	49	298	5.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122096

SMART Domains

Protein: ENSMUSP00000145194
Gene: ENSMUSG00000107906

Domain	Start	End	E-Value	Type
DEXDc	57	254	2.4e-59	SMART
HELICc	291	372	6.6e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203867
AA Change: S117P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145465
Gene: ENSMUSG00000051046
AA Change: S117P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	316	4.7e-47	PFAM
Pfam:7tm_1	49	298	5.9e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214699
AA Change: S117P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215846
AA Change: S117P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217313
AA Change: S117P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Crlf2	A	C	5: 109,704,897 (GRCm39)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcidas	A	G	13: 113,130,419 (GRCm39)	E5G	probably benign	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Pwp2	C	G	10: 78,020,127 (GRCm39)		probably null	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Rp1l1	C	A	14: 64,265,667 (GRCm39)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,479,117 (GRCm39)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,208,853 (GRCm39)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Or6d14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Or6d14	APN	6	116,534,027 (GRCm39)	missense	probably benign
IGL01837:Or6d14	APN	6	116,533,807 (GRCm39)	nonsense	probably null
IGL02523:Or6d14	APN	6	116,534,054 (GRCm39)	missense	probably benign	0.03
R0027:Or6d14	UTSW	6	116,533,910 (GRCm39)	missense	probably damaging	0.99
R0616:Or6d14	UTSW	6	116,533,889 (GRCm39)	missense	probably benign	0.00
R1121:Or6d14	UTSW	6	116,534,190 (GRCm39)	missense	probably damaging	0.99
R1555:Or6d14	UTSW	6	116,533,787 (GRCm39)	missense	probably damaging	1.00
R1691:Or6d14	UTSW	6	116,533,538 (GRCm39)	missense	probably benign	0.00
R2196:Or6d14	UTSW	6	116,533,578 (GRCm39)	missense	probably damaging	0.99
R3080:Or6d14	UTSW	6	116,534,178 (GRCm39)	missense	probably damaging	0.98
R5416:Or6d14	UTSW	6	116,534,166 (GRCm39)	missense	probably damaging	1.00
R5706:Or6d14	UTSW	6	116,534,074 (GRCm39)	missense	probably damaging	1.00
R7425:Or6d14	UTSW	6	116,533,398 (GRCm39)	missense	possibly damaging	0.95
R8059:Or6d14	UTSW	6	116,533,434 (GRCm39)	missense	possibly damaging	0.47
R8349:Or6d14	UTSW	6	116,534,289 (GRCm39)	missense	probably damaging	0.99
R8449:Or6d14	UTSW	6	116,534,289 (GRCm39)	missense	probably damaging	0.99
R8551:Or6d14	UTSW	6	116,534,289 (GRCm39)	missense	probably damaging	0.99
R8552:Or6d14	UTSW	6	116,534,289 (GRCm39)	missense	probably damaging	0.99
R8553:Or6d14	UTSW	6	116,534,289 (GRCm39)	missense	probably damaging	0.99
R8555:Or6d14	UTSW	6	116,534,289 (GRCm39)	missense	probably damaging	0.99
R8988:Or6d14	UTSW	6	116,534,255 (GRCm39)	missense	possibly damaging	0.89
R9720:Or6d14	UTSW	6	116,534,016 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TATCTGGCCTCAGTCACAGG -3'
(R):5'- AAGACAGCCTGGAAAGCCTC -3'

Sequencing Primer
(F):5'- TATCTGGCCTCAGTCACAGGAAATAC -3'
(R):5'- TCAGAATCACACCGGTTACTAGGATG -3'

Posted On

2018-09-12