Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Or5d14'

703539

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

Accession Numbers

Essential gene?

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

Stock #

R9280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87880022-87880966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87880458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 170 (F170Y)

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: F170Y

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

SMART Domains

Protein: ENSMUSP00000097425
Gene: ENSMUSG00000075139
AA Change: F170Y

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: F170Y

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

SMART Domains

Protein: ENSMUSP00000139068
Gene: ENSMUSG00000075139
AA Change: F170Y

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

Meta Mutation Damage Score

0.4302

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	G	T	6: 125,039,938 (GRCm39)	V514L	probably damaging	Het
Actl11	A	G	9: 107,808,573 (GRCm39)	I965M	probably damaging	Het
Ank3	A	T	10: 69,818,021 (GRCm39)	S1468C	possibly damaging	Het
Aoc1l1	A	G	6: 48,955,116 (GRCm39)	D652G	possibly damaging	Het
Apobec3	A	C	15: 79,791,082 (GRCm39)	N392T		Het
Ccdc33	A	T	9: 57,965,549 (GRCm39)	M591K	probably benign	Het
Ccdc39	T	C	3: 33,870,153 (GRCm39)	E689G	probably damaging	Het
Cnot1	A	T	8: 96,497,227 (GRCm39)	M250K	probably benign	Het
Crppa	T	A	12: 36,571,975 (GRCm39)	S344R	probably benign	Het
Ctbs	A	T	3: 146,160,142 (GRCm39)	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,189,255 (GRCm39)	I1540V	possibly damaging	Het
Dnah8	A	T	17: 31,004,071 (GRCm39)	Q3651H	possibly damaging	Het
Eif2a	A	G	3: 58,447,009 (GRCm39)		probably benign	Het
Entpd2	A	G	2: 25,289,511 (GRCm39)	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,314,774 (GRCm39)	P168S	probably damaging	Het
Fam76b	A	T	9: 13,751,012 (GRCm39)	H302L	possibly damaging	Het
Fancm	A	G	12: 65,153,612 (GRCm39)	E1356G	probably benign	Het
Fat2	G	A	11: 55,201,523 (GRCm39)	T517I	probably benign	Het
Glul	T	C	1: 153,783,611 (GRCm39)	C269R	probably benign	Het
Gm3404	C	T	5: 146,462,756 (GRCm39)	H40Y	possibly damaging	Het
Grb7	T	C	11: 98,345,248 (GRCm39)	F435S	probably damaging	Het
Ide	A	T	19: 37,295,490 (GRCm39)	Y191N		Het
Ide	T	C	19: 37,307,801 (GRCm39)		probably benign	Het
Ighv6-3	T	A	12: 114,355,420 (GRCm39)	T90S	probably damaging	Het
Il23r	A	G	6: 67,429,410 (GRCm39)	C311R	probably damaging	Het
Ilf2	A	G	3: 90,394,922 (GRCm39)	E390G	unknown	Het
Ints1	C	T	5: 139,750,469 (GRCm39)	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,850,736 (GRCm39)	E289G	probably benign	Het
Kbtbd2	G	A	6: 56,755,997 (GRCm39)	R580W	probably damaging	Het
Kif21b	T	C	1: 136,099,445 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,812 (GRCm39)	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,292 (GRCm39)	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,439,828 (GRCm39)	T429A	probably benign	Het
Mterf1a	A	T	5: 3,941,539 (GRCm39)	Y110N	probably damaging	Het
Myh4	G	A	11: 67,146,135 (GRCm39)	A1398T	probably damaging	Het
Nr3c2	T	A	8: 77,635,973 (GRCm39)	M358K	probably benign	Het
Nup50l	A	C	6: 96,141,982 (GRCm39)	L354R	probably damaging	Het
Or5g25	G	A	2: 85,478,504 (GRCm39)	R54*	probably null	Het
Or7e173	A	C	9: 19,938,639 (GRCm39)	S198R	probably benign	Het
Otof	A	G	5: 30,528,894 (GRCm39)	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,675,533 (GRCm39)	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,607,794 (GRCm39)	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,585 (GRCm39)	L585P	probably damaging	Het
Pde1c	A	T	6: 56,114,505 (GRCm39)	S469R	probably benign	Het
Pla2g6	A	G	15: 79,197,314 (GRCm39)	F87L	probably benign	Het
Rag2	A	T	2: 101,460,145 (GRCm39)	M152L	probably benign	Het
Rasa1	C	T	13: 85,436,732 (GRCm39)	A99T	unknown	Het
Rasgrp1	T	C	2: 117,113,132 (GRCm39)	N760S	probably benign	Het
Rgsl1	A	T	1: 153,669,898 (GRCm39)	M232K	probably benign	Het
Ryr1	G	A	7: 28,802,389 (GRCm39)	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,282,325 (GRCm39)	S50P	probably damaging	Het
Slc25a36	A	C	9: 96,982,233 (GRCm39)	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,401,003 (GRCm39)	I127F	probably benign	Het
Slco1a8	A	G	6: 141,939,978 (GRCm39)	L175P	possibly damaging	Het
Sntb1	T	C	15: 55,769,771 (GRCm39)	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,680,268 (GRCm39)		probably benign	Het
Tll2	T	A	19: 41,077,309 (GRCm39)	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,290,809 (GRCm39)	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,510,830 (GRCm39)	R11G		Het
Ubash3b	A	C	9: 41,072,877 (GRCm39)	I12S	unknown	Het
Usp37	T	C	1: 74,489,699 (GRCm39)	K828E	probably damaging	Het
Usp8	G	C	2: 126,561,944 (GRCm39)	S46T	unknown	Het
Zfp418	A	G	7: 7,184,408 (GRCm39)	T124A	possibly damaging	Het
Zfp87	T	C	13: 74,520,803 (GRCm39)	T92A	probably benign	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
R6888:Or5d14	UTSW	2	87,880,608 (GRCm39)	missense	probably damaging	1.00
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
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'- CACAGGTAGAGAAGGCTTTGC -3'
(R):5'- GTGTCTGAGTCCTACTTACTAGCAG -3'

Sequencing Primer
(F):5'- ACGTCCACTGGCAGATTTG -3'
(R):5'- GAGTCCTACTTACTAGCAGTTATGGC -3'

Posted On

2022-03-25