Mutagenetix > Incidental Mutation

Incidental Mutation 'R2249:Or52z14'

240783

Institutional Source

Beutler Lab

Gene Symbol

Or52z14

Ensembl Gene

ENSMUSG00000073944

Gene Name

olfactory receptor family 52 subfamily Z member 14

Synonyms

MOR31-5, Olfr619, GA_x6K02T2PBJ9-6326488-6327450

MMRRC Submission

040249-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103252796-103253919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103252943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 27 (D27E)

Ref Sequence

ENSEMBL: ENSMUSP00000150630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098196] [ENSMUST00000214883] [ENSMUST00000215732] [ENSMUST00000217603]

AlphaFold

E9PV95

Predicted Effect

probably benign
Transcript: ENSMUST00000098196
AA Change: D27E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: D27E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	316	4.4e-106	PFAM
Pfam:7TM_GPCR_Srsx	40	265	5e-10	PFAM
Pfam:7tm_1	46	298	3.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214883

Predicted Effect

probably benign
Transcript: ENSMUST00000215732
AA Change: D27E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215752

Predicted Effect

probably benign
Transcript: ENSMUST00000217603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,100,975 (GRCm39)	R379Q	probably null	Het
Adam23	C	T	1: 63,574,335 (GRCm39)	Q276*	probably null	Het
Apob	A	T	12: 8,057,499 (GRCm39)	S1961C	probably damaging	Het
Atxn7l1	C	T	12: 33,408,839 (GRCm39)	P334S	probably damaging	Het
Ccnb1	T	C	13: 100,917,827 (GRCm39)	M258V	possibly damaging	Het
Cd34	A	C	1: 194,630,260 (GRCm39)	T65P	possibly damaging	Het
Cog6	A	G	3: 52,907,900 (GRCm39)		probably null	Het
Cp	T	C	3: 20,041,734 (GRCm39)	M953T	probably damaging	Het
Cwc27	C	T	13: 104,768,130 (GRCm39)	R455Q	unknown	Het
Dhx57	A	T	17: 80,588,663 (GRCm39)	D63E	probably damaging	Het
Elapor1	A	T	3: 108,378,726 (GRCm39)	Y409*	probably null	Het
Flt4	T	A	11: 49,536,786 (GRCm39)	M1252K	possibly damaging	Het
Gfral	C	T	9: 76,100,631 (GRCm39)	C269Y	probably damaging	Het
Itih4	C	T	14: 30,621,351 (GRCm39)	Q788*	probably null	Het
Kif18b	A	G	11: 102,803,214 (GRCm39)	S499P	probably benign	Het
Map1a	G	C	2: 121,130,768 (GRCm39)	R528P	probably damaging	Het
Map3k5	T	C	10: 20,003,443 (GRCm39)	F1152L	probably damaging	Het
Marveld2	T	C	13: 100,748,599 (GRCm39)	D160G	probably benign	Het
Mtcl2	A	T	2: 156,882,013 (GRCm39)	C680S	probably benign	Het
Mug1	A	T	6: 121,847,469 (GRCm39)	M616L	probably benign	Het
Ndst4	A	T	3: 125,231,823 (GRCm39)	I131F	probably benign	Het
Neto1	G	T	18: 86,479,399 (GRCm39)	A196S	probably benign	Het
Notum	A	G	11: 120,545,237 (GRCm39)	F441L	probably benign	Het
Nsmce4a	A	G	7: 130,140,769 (GRCm39)	I239T	probably benign	Het
Or51g1	A	T	7: 102,633,647 (GRCm39)	N241K	possibly damaging	Het
Or5d35	A	T	2: 87,855,707 (GRCm39)	I214F	probably damaging	Het
Or6s1	T	A	14: 51,307,870 (GRCm39)	K327*	probably null	Het
Or6x1	A	T	9: 40,098,980 (GRCm39)	T190S	possibly damaging	Het
Or8k40	A	G	2: 86,584,398 (GRCm39)	M228T	probably damaging	Het
Pde4dip	A	T	3: 97,700,841 (GRCm39)	V221D	probably damaging	Het
Pkp1	T	C	1: 135,808,545 (GRCm39)	Y474C	probably damaging	Het
Ptk6	A	C	2: 180,838,173 (GRCm39)	H363Q	probably benign	Het
Rb1cc1	T	C	1: 6,342,948 (GRCm39)	W187R	probably damaging	Het
Rbfox3	A	T	11: 118,394,564 (GRCm39)	F132L	probably damaging	Het
Rcl1	A	T	19: 29,099,268 (GRCm39)	I188F	possibly damaging	Het
Scfd1	T	A	12: 51,462,299 (GRCm39)	S385T	possibly damaging	Het
Sema6d	A	G	2: 124,501,508 (GRCm39)	E483G	possibly damaging	Het
Semp2l2b	T	C	10: 21,943,015 (GRCm39)	I322V	possibly damaging	Het
Sipa1l1	T	C	12: 82,388,890 (GRCm39)	V372A	probably benign	Het
Slc17a6	G	A	7: 51,317,654 (GRCm39)	G429D	probably damaging	Het
Slc22a5	A	G	11: 53,774,532 (GRCm39)	V151A	possibly damaging	Het
Spidr	T	C	16: 15,936,787 (GRCm39)	D106G	probably damaging	Het
Tekt3	A	T	11: 62,974,778 (GRCm39)	T366S	probably benign	Het
Trpm3	T	C	19: 22,710,398 (GRCm39)	M281T	probably benign	Het
Ttn	A	G	2: 76,782,485 (GRCm39)	V917A	probably damaging	Het
Tubgcp4	A	T	2: 121,014,110 (GRCm39)	D221V	possibly damaging	Het
Ubr4	C	T	4: 139,176,232 (GRCm39)	R3153W	probably damaging	Het
Vmn1r89	A	C	7: 12,954,187 (GRCm39)	T308P	possibly damaging	Het
Vmn2r59	A	G	7: 41,708,326 (GRCm39)	I27T	probably benign	Het
Vps13c	T	G	9: 67,895,335 (GRCm39)		probably null	Het
Zfp142	A	G	1: 74,606,191 (GRCm39)	V1793A	probably damaging	Het
Zfp472	T	A	17: 33,197,109 (GRCm39)	C395S	possibly damaging	Het

Other mutations in Or52z14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Or52z14	APN	7	103,253,274 (GRCm39)	missense	probably benign	0.23
IGL01806:Or52z14	APN	7	103,253,548 (GRCm39)	missense	probably benign	0.21
IGL01934:Or52z14	APN	7	103,253,182 (GRCm39)	missense	probably damaging	1.00
IGL02269:Or52z14	APN	7	103,253,089 (GRCm39)	missense	probably damaging	0.98
IGL03049:Or52z14	APN	7	103,253,298 (GRCm39)	missense	probably damaging	0.99
IGL03165:Or52z14	APN	7	103,253,218 (GRCm39)	missense	probably damaging	0.98
IGL03338:Or52z14	APN	7	103,253,615 (GRCm39)	nonsense	probably null
R1378:Or52z14	UTSW	7	103,253,145 (GRCm39)	nonsense	probably null
R1660:Or52z14	UTSW	7	103,252,882 (GRCm39)	nonsense	probably null
R1975:Or52z14	UTSW	7	103,253,219 (GRCm39)	splice site	probably null
R1985:Or52z14	UTSW	7	103,252,879 (GRCm39)	missense	probably benign
R2423:Or52z14	UTSW	7	103,253,241 (GRCm39)	missense	probably benign	0.14
R4005:Or52z14	UTSW	7	103,253,470 (GRCm39)	missense	probably damaging	1.00
R4931:Or52z14	UTSW	7	103,253,581 (GRCm39)	missense	probably benign	0.01
R4939:Or52z14	UTSW	7	103,253,458 (GRCm39)	missense	probably benign	0.12
R4942:Or52z14	UTSW	7	103,253,401 (GRCm39)	missense	probably benign
R4970:Or52z14	UTSW	7	103,253,197 (GRCm39)	missense	probably damaging	0.98
R4993:Or52z14	UTSW	7	103,252,863 (GRCm39)	start codon destroyed	probably benign	0.01
R5254:Or52z14	UTSW	7	103,252,996 (GRCm39)	missense	probably benign	0.19
R6001:Or52z14	UTSW	7	103,253,179 (GRCm39)	missense	probably damaging	1.00
R6905:Or52z14	UTSW	7	103,253,574 (GRCm39)	missense	probably benign
R6985:Or52z14	UTSW	7	103,252,875 (GRCm39)	missense	probably benign	0.00
R8253:Or52z14	UTSW	7	103,253,538 (GRCm39)	missense	possibly damaging	0.88
R9124:Or52z14	UTSW	7	103,252,863 (GRCm39)	start codon destroyed	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTCAATCAGGTAAAAGCATTTCAC -3'
(R):5'- TTGGAATGGTCACTGTGGACAAG -3'

Sequencing Primer
(F):5'- CAGGTAAAAGCATTTCACAGACTTTC -3'
(R):5'- TGGTCACTGTGGACAAGAAGATATC -3'

Posted On

2014-10-15