Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Or52z14'

221573

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

039988-MU

Accession Numbers

Essential gene?

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

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103252796-103253919 bp(+) (GRCm39)

Type of Mutation

splice site (3564 bp from exon)

DNA Base Change (assembly)

A to G at 103253219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151147 (fasta)

Gene Model

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

AlphaFold

E9PV95

Predicted Effect

probably damaging
Transcript: ENSMUST00000098196
AA Change: I119M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: I119M

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 null
Transcript: ENSMUST00000214883

Predicted Effect

probably damaging
Transcript: ENSMUST00000215732
AA Change: I119M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215752

Predicted Effect

probably benign
Transcript: ENSMUST00000217603

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,322 (GRCm39)	T429A	probably benign	Het
Afmid	A	C	11: 117,727,300 (GRCm39)	I275L	probably benign	Het
Aimp1	A	C	3: 132,382,860 (GRCm39)	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171 (GRCm39)	A319V	probably benign	Het
Ankar	C	T	1: 72,697,600 (GRCm39)	V1068I	possibly damaging	Het
Ccr2	C	T	9: 123,906,830 (GRCm39)	S370L	probably benign	Het
Chrnb4	A	G	9: 54,942,102 (GRCm39)	Y391H	probably damaging	Het
Clip1	A	G	5: 123,761,281 (GRCm39)	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,797,762 (GRCm39)	G1409R	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dock4	T	C	12: 40,829,641 (GRCm39)		probably benign	Het
Eml4	T	C	17: 83,717,622 (GRCm39)	S65P	probably benign	Het
Fblim1	A	T	4: 141,312,175 (GRCm39)	D183E	probably damaging	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Gm973	A	T	1: 59,601,930 (GRCm39)	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Hipk3	T	C	2: 104,301,518 (GRCm39)	I225V	probably benign	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Il15ra	A	G	2: 11,728,334 (GRCm39)	T133A	possibly damaging	Het
Krt78	T	C	15: 101,854,603 (GRCm39)	*1069W	probably null	Het
Lama3	T	A	18: 12,586,920 (GRCm39)	M761K	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Macf1	T	C	4: 123,383,005 (GRCm39)	T1320A	probably damaging	Het
Mark3	A	T	12: 111,581,875 (GRCm39)	I115L	probably damaging	Het
Mcph1	T	G	8: 18,739,081 (GRCm39)		probably benign	Het
Med23	T	A	10: 24,786,664 (GRCm39)	N923K	probably benign	Het
Msrb2	T	G	2: 19,398,032 (GRCm39)	Y97D	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Mylk	T	C	16: 34,700,673 (GRCm39)		probably null	Het
Nfrkb	T	A	9: 31,325,980 (GRCm39)	V1141E	possibly damaging	Het
Obscn	T	C	11: 58,958,555 (GRCm39)	E3675G	probably damaging	Het
Or11h7	T	A	14: 50,890,821 (GRCm39)	N42K	probably damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Or2t6	A	T	14: 14,175,446 (GRCm38)	V212E	probably damaging	Het
Or51aa2	A	T	7: 103,188,201 (GRCm39)	F80Y	probably damaging	Het
Or5ac21	T	C	16: 59,124,091 (GRCm39)	S193P	probably damaging	Het
Or8k21	C	G	2: 86,145,498 (GRCm39)	G44A	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,393,109 (GRCm39)	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Psma8	T	G	18: 14,864,033 (GRCm39)		probably null	Het
Rbl2	T	C	8: 91,812,090 (GRCm39)	S220P	probably benign	Het
Rere	T	A	4: 150,700,190 (GRCm39)	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,197,002 (GRCm39)	C540R	probably damaging	Het
Sema3d	T	A	5: 12,613,285 (GRCm39)	V454E	probably damaging	Het
Sema3d	T	C	5: 12,634,965 (GRCm39)	V677A	probably benign	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,444,141 (GRCm39)	I370V	probably benign	Het
Slc22a19	A	G	19: 7,661,224 (GRCm39)		probably benign	Het
Slc26a1	T	A	5: 108,820,338 (GRCm39)	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Slco2a1	T	A	9: 102,956,653 (GRCm39)	Y488*	probably null	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Strn	T	C	17: 78,999,928 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Thumpd3	A	G	6: 113,032,838 (GRCm39)	N192S	possibly damaging	Het
Tns3	T	A	11: 8,385,738 (GRCm39)	I1386F	probably benign	Het
Treml4	T	A	17: 48,579,821 (GRCm39)	V219E	probably damaging	Het
Triobp	T	C	15: 78,850,908 (GRCm39)	V354A	probably benign	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tub	G	A	7: 108,627,042 (GRCm39)	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,537,926 (GRCm39)	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,258,550 (GRCm39)	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Zfp110	C	T	7: 12,582,429 (GRCm39)	T359I	probably benign	Het
Zfp322a	A	T	13: 23,541,074 (GRCm39)	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,228,878 (GRCm39)	R696*	probably null	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
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
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'- TGAGCATAGTCTTCATGAACCC -3'
(R):5'- GCAATGCCCATGTGTTCACAG -3'

Sequencing Primer
(F):5'- ATGAACCCATGTACTTTTTCCTAAC -3'
(R):5'- CCCATGTGTTCACAGTATGAGTGAC -3'

Posted On

2014-08-25