Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Or52z14'

542904

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

045092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103252796-103253919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103252875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 5 (T5A)

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: T5A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: T5A

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: T5A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000217603

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

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
Akirin1	A	G	4: 123,630,649 (GRCm39)	*192R	probably null	Het
Ankar	A	C	1: 72,697,641 (GRCm39)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,521,636 (GRCm39)	A20E	unknown	Het
Arhgap1	T	A	2: 91,498,543 (GRCm39)	Y147N	probably damaging	Het
Arid2	T	C	15: 96,268,029 (GRCm39)	V714A	probably benign	Het
Arrdc3	T	C	13: 81,031,776 (GRCm39)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,799,830 (GRCm39)	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,437,095 (GRCm39)	R98G	probably damaging	Het
Capn10	T	C	1: 92,871,146 (GRCm39)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,709,529 (GRCm39)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,309,560 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,460,757 (GRCm39)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,656,378 (GRCm39)	N893S	probably benign	Het
Ctsh	G	A	9: 89,936,657 (GRCm39)	A19T	possibly damaging	Het
Cttn	C	A	7: 144,006,324 (GRCm39)	E214*	probably null	Het
Des	A	G	1: 75,343,431 (GRCm39)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,615,679 (GRCm39)	V109A	probably benign	Het
Dock1	A	G	7: 134,765,132 (GRCm39)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,229,934 (GRCm39)	I2184T	probably benign	Het
Enc1	C	T	13: 97,381,628 (GRCm39)	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,896,108 (GRCm39)	S670P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,201,460 (GRCm39)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,296,957 (GRCm39)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,892,785 (GRCm39)	E744Q	probably null	Het
Gmps	T	A	3: 63,922,960 (GRCm39)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,276,670 (GRCm39)	Y152F	probably damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Herc2	A	G	7: 55,782,228 (GRCm39)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,860,252 (GRCm39)	T14A	probably benign	Het
Insr	T	A	8: 3,211,372 (GRCm39)	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,154,731 (GRCm39)	G127C	probably damaging	Het
Krt10	T	C	11: 99,276,456 (GRCm39)	N65S	possibly damaging	Het
Lrig3	A	G	10: 125,850,738 (GRCm39)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,022,274 (GRCm39)	N306H	probably benign	Het
Map4k3	A	G	17: 80,944,161 (GRCm39)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,322,122 (GRCm39)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,315,594 (GRCm39)	L60S	probably damaging	Het
Muc4	A	T	16: 32,570,817 (GRCm39)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,444,117 (GRCm39)	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,786,432 (GRCm39)	F442L	possibly damaging	Het
Naa35	T	A	13: 59,775,757 (GRCm39)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,531,275 (GRCm39)	V645E	probably damaging	Het
Or5af2	T	C	11: 58,707,939 (GRCm39)	F35S	probably damaging	Het
Otx1	A	T	11: 21,946,615 (GRCm39)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,630,211 (GRCm39)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,017,223 (GRCm39)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,214,643 (GRCm39)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm39)	D354A	probably benign	Het
Prtg	T	G	9: 72,758,783 (GRCm39)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,595,504 (GRCm39)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,958,555 (GRCm39)	S71G	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Shank1	A	G	7: 43,994,337 (GRCm39)	I833V	unknown	Het
Slc35f1	C	A	10: 52,898,007 (GRCm39)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,879,429 (GRCm39)	I36F	probably benign	Het
Sstr4	T	A	2: 148,238,169 (GRCm39)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trat1	A	G	16: 48,574,634 (GRCm39)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,828,075 (GRCm39)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 32,821,074 (GRCm39)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,778,530 (GRCm39)	D7G	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
R1985:Or52z14	UTSW	7	103,252,879 (GRCm39)	missense	probably benign
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
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'- ATGGGTTCATGAAGACTATGCTC -3'

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

Posted On

2018-11-28