Mutagenetix > Incidental Mutation

Incidental Mutation 'R9123:Or5d14'

693006

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 #

R9123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87880022-87880966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87880294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 225 (V225M)

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: V225M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097425
Gene: ENSMUSG00000075139
AA Change: V225M

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: V225M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139068
Gene: ENSMUSG00000075139
AA Change: V225M

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Apoe	T	A	7: 19,432,375 (GRCm39)		probably benign	Het
Asz1	T	C	6: 18,054,561 (GRCm39)	E414G	probably benign	Het
Atp2a2	A	T	5: 122,604,918 (GRCm39)	C420*	probably null	Het
Cd84	A	T	1: 171,712,153 (GRCm39)		probably null	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cpsf2	A	G	12: 101,963,555 (GRCm39)	D428G	probably damaging	Het
Cspg4b	C	T	13: 113,505,374 (GRCm39)	P2168S		Het
Dap3	T	A	3: 88,837,861 (GRCm39)	T130S	probably benign	Het
Ddb2	T	A	2: 91,064,593 (GRCm39)	K106*	probably null	Het
Ehd2	G	A	7: 15,684,626 (GRCm39)	A391V	probably damaging	Het
Evpl	A	T	11: 116,115,008 (GRCm39)	I894N	possibly damaging	Het
Gabrb2	A	G	11: 42,482,693 (GRCm39)	T184A	probably damaging	Het
Gfpt1	G	A	6: 87,053,248 (GRCm39)	V403I	probably benign	Het
Gli1	A	G	10: 127,167,202 (GRCm39)	S684P	possibly damaging	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Hoxc10	C	T	15: 102,875,810 (GRCm39)	P173L	probably benign	Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kif2c	A	T	4: 117,024,291 (GRCm39)	S359T	probably benign	Het
Lmln	T	G	16: 32,930,202 (GRCm39)	L553R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mettl1	T	A	10: 126,880,911 (GRCm39)	V191D	possibly damaging	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Myl1	A	T	1: 66,973,675 (GRCm39)		probably null	Het
Nfat5	A	G	8: 108,078,141 (GRCm39)	T427A	probably damaging	Het
Noa1	T	C	5: 77,457,038 (GRCm39)	Y289C	possibly damaging	Het
Or8b49	T	A	9: 38,506,108 (GRCm39)	I197K	probably damaging	Het
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Ppp1r7	A	G	1: 93,285,497 (GRCm39)	I246V	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably damaging	Het
Psme2	T	A	14: 55,828,302 (GRCm39)	K15N	possibly damaging	Het
Retreg1	C	T	15: 25,968,618 (GRCm39)	R125C	probably damaging	Het
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,771,229 (GRCm39)	T2604I	probably damaging	Het
Sag	T	C	1: 87,751,043 (GRCm39)	S170P	probably damaging	Het
Sema3b	T	A	9: 107,478,173 (GRCm39)	N404I	possibly damaging	Het
Serpina1b	A	T	12: 103,696,566 (GRCm39)	L281Q	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Slco6d1	A	T	1: 98,423,919 (GRCm39)	N524Y	probably damaging	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Syne2	A	T	12: 76,040,838 (GRCm39)	H3832L	probably damaging	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Trp63	C	T	16: 25,639,247 (GRCm39)	A145V	probably damaging	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Ttc39b	T	C	4: 83,189,444 (GRCm39)	D30G	probably damaging	Het
Usf3	A	G	16: 44,041,030 (GRCm39)	T1837A	probably benign	Het
Usp25	T	A	16: 76,911,969 (GRCm39)		probably null	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vrk3	C	T	7: 44,407,254 (GRCm39)	S75F	possibly damaging	Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Wdr47	T	C	3: 108,526,106 (GRCm39)	F210L	probably damaging	Het
Zfp853	G	A	5: 143,274,496 (GRCm39)	Q390*	probably null	Het
Zfyve9	A	T	4: 108,575,760 (GRCm39)	D440E	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
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'- ACATGGGGTTGACAACAGTG -3'
(R):5'- CTGTGCATCCTGCTTGTGAC -3'

Sequencing Primer
(F):5'- TGTAAAAGACAGAGGCCACTTTAAC -3'
(R):5'- GACTGGGTCATATATCTGGAGC -3'

Posted On

2022-01-20