Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Or5d14'

537024

Institutional Source

Beutler Lab

Gene Symbol

Or5d14

Ensembl Gene

ENSMUSG00000075139

Gene Name

olfactory receptor family 5 subfamily D member 14

Synonyms

MOR174-14, Olfr1162, GA_x6K02T2Q125-49542541-49541597

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87880022-87880966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87880608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 120 (M120T)

Ref Sequence

ENSEMBL: ENSMUSP00000139068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099837] [ENSMUST00000183862]

AlphaFold

Q7TR28

Predicted Effect

probably damaging
Transcript: ENSMUST00000099837
AA Change: M120T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097425
Gene: ENSMUSG00000075139
AA Change: M120T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	2.9e-46	PFAM
Pfam:7tm_1	43	292	1.5e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183862
AA Change: M120T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139068
Gene: ENSMUSG00000075139
AA Change: M120T

Domain	Start	End	E-Value	Type
Pfam:7tm_1	43	292	4.2e-27	PFAM
Pfam:7tm_4	141	285	3.1e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	T	C	11: 120,238,141 (GRCm39)	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,656,788 (GRCm39)	I2902T	probably damaging	Het
AI429214	G	A	8: 37,460,987 (GRCm39)	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,599,372 (GRCm39)	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,545,299 (GRCm39)	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,580,027 (GRCm39)	D307G	possibly damaging	Het
AY761185	A	T	8: 21,434,571 (GRCm39)	Y52*	probably null	Het
Bfsp1	A	G	2: 143,668,639 (GRCm39)	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,747,453 (GRCm39)	V192A	probably benign	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Ccdc170	T	C	10: 4,496,854 (GRCm39)	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,179,746 (GRCm39)	R238W	probably damaging	Het
Cdh1	A	G	8: 107,384,946 (GRCm39)	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,807,018 (GRCm39)	H4R	probably benign	Het
Cftr	G	A	6: 18,313,729 (GRCm39)		probably null	Het
Cstpp1	A	G	2: 91,252,239 (GRCm39)	Y41H	probably damaging	Het
Dnajc16	A	G	4: 141,504,303 (GRCm39)	V219A	probably benign	Het
Drd3	A	T	16: 43,637,502 (GRCm39)	I266F	probably benign	Het
Dut	A	G	2: 125,099,044 (GRCm39)	D177G	probably benign	Het
Esr1	A	G	10: 4,807,076 (GRCm39)	I331V	probably benign	Het
Gm11110	A	G	17: 57,409,143 (GRCm39)		probably benign	Het
Grm7	G	T	6: 111,335,314 (GRCm39)	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,897,512 (GRCm39)	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,910,218 (GRCm39)	V122A	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Kntc1	T	C	5: 123,949,373 (GRCm39)	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,138,238 (GRCm39)	D205E	probably damaging	Het
Limch1	C	T	5: 67,179,269 (GRCm39)	T713I	probably benign	Het
Lrp1b	A	G	2: 41,361,138 (GRCm39)	I555T	probably benign	Het
Lrp2	A	T	2: 69,354,485 (GRCm39)	F448I	probably damaging	Het
Marchf6	T	C	15: 31,459,379 (GRCm39)	K896E	probably benign	Het
Mroh4	T	C	15: 74,485,098 (GRCm39)	Y469C	possibly damaging	Het
Niban3	G	T	8: 72,056,383 (GRCm39)	R361L	probably benign	Het
Nos3	T	C	5: 24,588,333 (GRCm39)	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,292,404 (GRCm39)	I406T	probably damaging	Het
Odf2l	T	C	3: 144,854,379 (GRCm39)		probably null	Het
Or2y15	A	T	11: 49,351,087 (GRCm39)	T194S	probably damaging	Het
Pals2	T	G	6: 50,157,257 (GRCm39)		probably null	Het
Pbx2	A	G	17: 34,813,081 (GRCm39)	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,500,905 (GRCm39)	A526S	probably benign	Het
Prx	G	A	7: 27,219,059 (GRCm39)	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,357,198 (GRCm39)	V230I	probably benign	Het
Rtn3	C	T	19: 7,434,614 (GRCm39)	M440I	probably benign	Het
Sar1b	T	C	11: 51,679,019 (GRCm39)	I96T	probably damaging	Het
Sds	T	C	5: 120,618,965 (GRCm39)		probably null	Het
Secisbp2	A	G	13: 51,833,977 (GRCm39)	T706A	probably benign	Het
Sorcs3	A	T	19: 48,682,263 (GRCm39)	M433L	possibly damaging	Het
Sppl2a	A	G	2: 126,746,912 (GRCm39)	V472A	probably damaging	Het
Tbc1d9	A	G	8: 83,998,217 (GRCm39)	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,929,008 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,568,095 (GRCm39)	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,376,915 (GRCm39)	G178D	probably damaging	Het
Tmem174	A	G	13: 98,773,569 (GRCm39)	L87P	probably damaging	Het
Tmppe	T	A	9: 114,233,769 (GRCm39)	S23T	probably damaging	Het
Ttn	G	A	2: 76,591,447 (GRCm39)	T21074I	probably benign	Het
Tub	A	G	7: 108,628,505 (GRCm39)	M338V	probably null	Het
Vmn1r160	A	T	7: 22,571,531 (GRCm39)	R295*	probably null	Het
Vps52	T	C	17: 34,182,180 (GRCm39)	V518A	probably benign	Het
Wdr59	A	G	8: 112,177,675 (GRCm39)	V909A	probably benign	Het
Wnk1	T	C	6: 119,925,742 (GRCm39)	T1241A	probably benign	Het
Zfp882	G	A	8: 72,668,130 (GRCm39)	C319Y	probably benign	Het
Znfx1	A	T	2: 166,880,860 (GRCm39)	I308N	possibly damaging	Het

Other mutations in Or5d14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Or5d14	APN	2	87,880,128 (GRCm39)	missense	possibly damaging	0.63
IGL01965:Or5d14	APN	2	87,880,780 (GRCm39)	missense	probably benign	0.14
IGL02183:Or5d14	APN	2	87,880,333 (GRCm39)	missense	possibly damaging	0.96
R0281:Or5d14	UTSW	2	87,880,756 (GRCm39)	missense	possibly damaging	0.96
R0501:Or5d14	UTSW	2	87,880,815 (GRCm39)	missense	probably damaging	1.00
R4254:Or5d14	UTSW	2	87,880,123 (GRCm39)	missense	possibly damaging	0.62
R4589:Or5d14	UTSW	2	87,880,823 (GRCm39)	missense	probably benign	0.12
R4824:Or5d14	UTSW	2	87,880,432 (GRCm39)	missense	probably damaging	1.00
R5148:Or5d14	UTSW	2	87,880,737 (GRCm39)	missense	probably benign	0.08
R5580:Or5d14	UTSW	2	87,880,668 (GRCm39)	missense	possibly damaging	0.79
R6174:Or5d14	UTSW	2	87,880,646 (GRCm39)	nonsense	probably null
R7935:Or5d14	UTSW	2	87,880,290 (GRCm39)	missense	probably damaging	1.00
R7951:Or5d14	UTSW	2	87,880,601 (GRCm39)	nonsense	probably null
R9123:Or5d14	UTSW	2	87,880,294 (GRCm39)	missense	probably damaging	0.99
R9125:Or5d14	UTSW	2	87,880,294 (GRCm39)	missense	probably damaging	0.99
R9133:Or5d14	UTSW	2	87,880,782 (GRCm39)	missense	probably damaging	1.00
R9280:Or5d14	UTSW	2	87,880,458 (GRCm39)	missense	probably damaging	1.00
R9374:Or5d14	UTSW	2	87,880,509 (GRCm39)	nonsense	probably null
R9552:Or5d14	UTSW	2	87,880,509 (GRCm39)	nonsense	probably null
Z1177:Or5d14	UTSW	2	87,880,648 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCACAGAAGAAGTGGTTGATCAC -3'
(R):5'- AACCTTGGGATGATAGCACTC -3'

Sequencing Primer
(F):5'- GAAGTGGTTGATCACATTAAATCTTG -3'
(R):5'- AAGTTCCACACTCCAATGTACTTC -3'

Posted On

2018-10-18