Mutagenetix > Incidental Mutation

Incidental Mutation 'R9133:Or5d14'

693757

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

068930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87880022-87880966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87880782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 62 (Y62C)

Ref Sequence

ENSEMBL: ENSMUSP00000139068 (fasta)

Gene Model

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

AlphaFold

Q7TR28

Predicted Effect

SMART Domains

Protein: ENSMUSP00000097425
Gene: ENSMUSG00000075139
AA Change: Y62C

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: Y62C

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

SMART Domains

Protein: ENSMUSP00000139068
Gene: ENSMUSG00000075139
AA Change: Y62C

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	A	17: 13,159,176 (GRCm39)	R4S	probably benign	Het
Adamdec1	A	T	14: 68,814,547 (GRCm39)	C143*	probably null	Het
Adck5	A	G	15: 76,460,612 (GRCm39)		probably benign	Het
Aebp2	A	G	6: 140,579,441 (GRCm39)	D226G	probably damaging	Het
Ascc3	A	G	10: 50,630,175 (GRCm39)	I1755V	possibly damaging	Het
Aspm	C	T	1: 139,419,266 (GRCm39)	T2977M	probably damaging	Het
Cacna1a	A	G	8: 85,276,152 (GRCm39)	S582G	probably damaging	Het
Card14	T	C	11: 119,231,835 (GRCm39)	F801S	probably damaging	Het
Casp16	T	A	17: 23,771,003 (GRCm39)	D134V	probably damaging	Het
Cmya5	A	G	13: 93,234,108 (GRCm39)	S327P	possibly damaging	Het
Cutc	A	T	19: 43,755,727 (GRCm39)	D229V	possibly damaging	Het
Cyp21a1	C	A	17: 35,023,419 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,859,423 (GRCm39)	K2130R	probably damaging	Het
Dsc1	C	T	18: 20,234,904 (GRCm39)	S250N	probably benign	Het
Edc4	T	C	8: 106,611,778 (GRCm39)		probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehmt1	A	T	2: 24,729,635 (GRCm39)	I642K	possibly damaging	Het
Gjd2	T	C	2: 113,842,039 (GRCm39)	Q146R	probably benign	Het
Gm26661	A	G	14: 7,791,936 (GRCm38)	H117R	unknown	Het
H2-Oa	T	A	17: 34,313,505 (GRCm39)	D185E	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hyal6	A	G	6: 24,734,585 (GRCm39)	R173G	possibly damaging	Het
Ica1	A	T	6: 8,659,921 (GRCm39)	V125D	probably benign	Het
Ift172	T	C	5: 31,442,867 (GRCm39)	T140A	probably benign	Het
Ighv9-4	T	A	12: 114,263,883 (GRCm39)	I17F	probably benign	Het
Igkv4-92	G	T	6: 68,732,248 (GRCm39)	T42N	probably damaging	Het
Kctd16	C	A	18: 40,392,069 (GRCm39)	P219Q	probably damaging	Het
Kdm5b	A	T	1: 134,530,323 (GRCm39)	I445F	probably benign	Het
Ksr2	A	G	5: 117,841,319 (GRCm39)	T598A	probably benign	Het
Lrrn1	C	T	6: 107,544,568 (GRCm39)	T122I	probably damaging	Het
Mars2	A	G	1: 55,276,721 (GRCm39)	D108G	possibly damaging	Het
Ms4a14	A	G	19: 11,281,038 (GRCm39)	W507R		Het
Ncoa3	A	G	2: 165,910,381 (GRCm39)	T1266A	possibly damaging	Het
Neb	T	C	2: 52,083,256 (GRCm39)	K5650E	possibly damaging	Het
Nlrp4f	T	A	13: 65,332,883 (GRCm39)	K92*	probably null	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Nova1	G	T	12: 46,865,524 (GRCm39)	A4E	unknown	Het
Nphs1	G	T	7: 30,160,092 (GRCm39)	E124*	probably null	Het
Or10d4	T	A	9: 39,580,974 (GRCm39)	I207N	possibly damaging	Het
Or10d4b	T	A	9: 39,534,809 (GRCm39)	L128*	probably null	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,313,050 (GRCm39)	S1257P	probably damaging	Het
Ranbp3	T	C	17: 57,003,791 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,793,600 (GRCm39)	T126A	probably benign	Het
Rexo5	T	G	7: 119,444,667 (GRCm39)	L714R	probably damaging	Het
Rhobtb3	A	G	13: 76,020,512 (GRCm39)	Y597H	probably damaging	Het
Riox1	C	G	12: 83,998,221 (GRCm39)	Y252*	probably null	Het
Sh2d3c	T	C	2: 32,634,778 (GRCm39)	Y186H	possibly damaging	Het
Slc16a7	T	A	10: 125,066,536 (GRCm39)	T368S	probably benign	Het
Slc25a26	G	A	6: 94,511,143 (GRCm39)	V107I		Het
Slc4a5	A	T	6: 83,203,217 (GRCm39)	Y39F	possibly damaging	Het
Smarcad1	A	G	6: 65,049,035 (GRCm39)	K254E	probably damaging	Het
Sspo	G	T	6: 48,434,747 (GRCm39)	V1080L	possibly damaging	Het
Thsd7b	A	T	1: 129,843,382 (GRCm39)	T865S	probably benign	Het
Top1	C	T	2: 160,545,591 (GRCm39)	Q320*	probably null	Het
Trank1	T	A	9: 111,220,770 (GRCm39)	N2502K	possibly damaging	Het
Urad	T	C	5: 147,252,251 (GRCm39)	H67R	probably damaging	Het
Vamp5	A	C	6: 72,357,362 (GRCm39)		probably null	Het
Vmn1r62	A	G	7: 5,679,062 (GRCm39)	I248V	probably benign	Het
Wwc2	G	T	8: 48,305,007 (GRCm39)	Q873K	unknown	Het
Zcchc2	C	A	1: 105,958,535 (GRCm39)	S1002Y	probably damaging	Het
Zdhhc14	G	A	17: 5,803,283 (GRCm39)	R462H	probably benign	Het
Zfp788	A	G	7: 41,299,484 (GRCm39)	N707D		Het
Zfp964	A	G	8: 70,115,783 (GRCm39)	T128A	probably benign	Het
Zkscan16	T	C	4: 58,957,722 (GRCm39)	L668S	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
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
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'- GGCCACGAAGCGATCATAAG -3'
(R):5'- CAGCTGTCTACTGATAGGCATTATG -3'

Sequencing Primer
(F):5'- GCCATAACTGCTAGTAAGTAGGACTC -3'
(R):5'- GCATTATGGTGCCAATGGAAAG -3'

Posted On

2022-01-20