Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Or52z14'

220462

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

039997-MU

Accession Numbers

Essential gene?

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

Stock #

R1985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103252796-103253919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103252879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 6 (Y6F)

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: Y6F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: Y6F

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: Y6F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215752

Predicted Effect

probably benign
Transcript: ENSMUST00000217603

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	A	8: 71,916,157 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,236,755 (GRCm39)	D648E	probably benign	Het
Akr1d1	A	G	6: 37,535,336 (GRCm39)	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,207,363 (GRCm39)	H3R	possibly damaging	Het
Anpep	A	C	7: 79,490,605 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,903 (GRCm39)	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,604,899 (GRCm39)	Y427N	probably benign	Het
Camkk2	A	C	5: 122,902,190 (GRCm39)	S40A	possibly damaging	Het
Camp	T	C	9: 109,677,497 (GRCm39)	N112S	probably benign	Het
Cbx7	A	G	15: 79,802,591 (GRCm39)	S229P	probably damaging	Het
Cnot2	T	C	10: 116,363,781 (GRCm39)	N41S	probably damaging	Het
Dchs1	A	G	7: 105,421,605 (GRCm39)	F272L	possibly damaging	Het
Dct	T	C	14: 118,273,954 (GRCm39)	K318E	probably benign	Het
Dhrs11	A	C	11: 84,719,633 (GRCm39)	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,481,718 (GRCm39)	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Flnc	A	G	6: 29,444,415 (GRCm39)		probably benign	Het
Garin3	T	C	11: 46,298,693 (GRCm39)	*666Q	probably null	Het
Gm7535	A	G	17: 18,131,800 (GRCm39)		probably benign	Het
Grtp1	A	G	8: 13,229,376 (GRCm39)	F313L	probably damaging	Het
Haus6	T	C	4: 86,511,846 (GRCm39)	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,422,753 (GRCm39)	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hipk3	T	C	2: 104,264,780 (GRCm39)	I737V	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Ints3	C	T	3: 90,307,610 (GRCm39)		probably null	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kdm4b	T	A	17: 56,708,302 (GRCm39)	V957E	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Klhl11	G	T	11: 100,354,070 (GRCm39)	Q584K	probably benign	Het
Krt9	A	T	11: 100,080,817 (GRCm39)	M345K	probably benign	Het
Lgr5	T	C	10: 115,331,150 (GRCm39)		probably benign	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Ly9	A	G	1: 171,427,341 (GRCm39)	S405P	probably damaging	Het
Myh2	A	G	11: 67,071,740 (GRCm39)	D519G	possibly damaging	Het
Nav3	G	A	10: 109,606,045 (GRCm39)		probably benign	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,175,600 (GRCm39)		probably benign	Het
Obsl1	A	G	1: 75,482,244 (GRCm39)	C209R	probably damaging	Het
Or13a25	G	A	7: 140,247,734 (GRCm39)	C171Y	probably damaging	Het
Or2d4	A	G	7: 106,544,133 (GRCm39)	I25T	probably benign	Het
Or2j6	A	T	7: 139,980,713 (GRCm39)	M82K	possibly damaging	Het
Or2t44	A	C	11: 58,677,210 (GRCm39)	D50A	probably damaging	Het
Or2y1g	T	C	11: 49,171,110 (GRCm39)	I45T	probably damaging	Het
Otud4	G	C	8: 80,366,641 (GRCm39)	R36P	probably damaging	Het
Pcnt	C	T	10: 76,216,171 (GRCm39)	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 125,097,331 (GRCm39)	M491L	probably benign	Het
Pitrm1	A	T	13: 6,608,220 (GRCm39)	D316V	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pramel52-ps	A	T	5: 94,531,931 (GRCm39)	I272L	probably benign	Het
Prickle2	T	C	6: 92,388,433 (GRCm39)	D323G	probably damaging	Het
Psmd11	A	T	11: 80,336,089 (GRCm39)	I114F	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbp3	T	G	14: 33,678,418 (GRCm39)	S789A	probably benign	Het
Rfxap	C	A	3: 54,714,747 (GRCm39)	R117L	probably damaging	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Scin	A	G	12: 40,183,907 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,583,744 (GRCm39)	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,619,210 (GRCm39)	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,370,469 (GRCm39)	I237V	probably benign	Het
Spag6	A	G	2: 18,736,930 (GRCm39)	I218V	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tbc1d24	G	A	17: 24,426,938 (GRCm39)	R318*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Trpm3	T	A	19: 22,903,446 (GRCm39)	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,197,479 (GRCm39)	D47G	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Uqcc6	T	A	10: 82,456,051 (GRCm39)	T37S	possibly damaging	Het
Wdr7	GTT	GT	18: 63,893,654 (GRCm39)		probably null	Het
Ybx2	A	G	11: 69,827,294 (GRCm39)		probably null	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp788	T	A	7: 41,299,905 (GRCm39)	I795N	probably 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
R2249:Or52z14	UTSW	7	103,252,943 (GRCm39)	missense	probably benign	0.00
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'- TAGAAGTCCTCAATCAGGTAAAAGC -3'
(R):5'- TGGGTTCATGAAGACTATGCTC -3'

Sequencing Primer
(F):5'- GTCCTCAATCAGGTAAAAGCATTTC -3'
(R):5'- GGGTTCATGAAGACTATGCTCAATAG -3'

Posted On

2014-08-25