Mutagenetix > Incidental Mutation

Incidental Mutation 'R0346:Or4z4'

34310

Institutional Source

Beutler Lab

Gene Symbol

Or4z4

Ensembl Gene

ENSMUSG00000067525

Gene Name

olfactory receptor family 4 subfamily Z member 4

Synonyms

MOR239-4, Olfr1427, GA_x6K02T2RE5P-2458473-2457538

MMRRC Submission

038553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12076066-12077001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12076803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 67 (S67T)

Ref Sequence

ENSEMBL: ENSMUSP00000150457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087825] [ENSMUST00000215374] [ENSMUST00000216069]

AlphaFold

Q8VFU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000087825
AA Change: S67T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000085127
Gene: ENSMUSG00000067525
AA Change: S67T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.4e-47	PFAM
Pfam:7tm_1	41	304	6.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215374
AA Change: S67T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216069
AA Change: S67T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216845

Meta Mutation Damage Score

0.2987

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,516,278 (GRCm39)	I4406L	probably damaging	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Add3	C	T	19: 53,205,387 (GRCm39)	R46*	probably null	Het
Alas1	A	T	9: 106,120,550 (GRCm39)	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,429,567 (GRCm39)	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,582,479 (GRCm39)	R365*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
AU021092	T	C	16: 5,034,718 (GRCm39)	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Caln1	C	A	5: 130,851,762 (GRCm39)	H184N	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,759,315 (GRCm39)	V372A	probably damaging	Het
Ccng2	T	G	5: 93,418,753 (GRCm39)	I126S	probably damaging	Het
Cep85	A	T	4: 133,859,733 (GRCm39)	N643K	probably damaging	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,129,968 (GRCm39)		probably benign	Het
Cttn	A	T	7: 144,006,276 (GRCm39)		probably benign	Het
Dedd2	T	C	7: 24,910,694 (GRCm39)	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,153,132 (GRCm39)	D263G	probably damaging	Het
Dppa4	T	A	16: 48,109,687 (GRCm39)		probably benign	Het
Ear2	A	G	14: 44,340,363 (GRCm39)	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,345,452 (GRCm39)		probably benign	Het
Etl4	G	T	2: 20,764,463 (GRCm39)		probably null	Het
Fbxo15	T	A	18: 84,978,346 (GRCm39)		probably null	Het
Gm9970	A	G	5: 31,398,182 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,246,855 (GRCm39)	S17P	probably benign	Het
Hgd	C	T	16: 37,409,136 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,386,370 (GRCm39)	C364R	probably damaging	Het
Inpp5f	T	A	7: 128,292,392 (GRCm39)	L16Q	probably damaging	Het
Irag1	T	C	7: 110,498,183 (GRCm39)	D404G	probably damaging	Het
Islr2	G	A	9: 58,105,626 (GRCm39)	R545*	probably null	Het
Itgav	G	T	2: 83,622,953 (GRCm39)	C675F	probably damaging	Het
Kif13a	T	A	13: 46,967,695 (GRCm39)	I403L	possibly damaging	Het
Kif14	T	A	1: 136,395,898 (GRCm39)	I68N	probably damaging	Het
Kif26a	G	T	12: 112,145,782 (GRCm39)	K1764N	probably null	Het
Lrrd1	C	A	5: 3,900,215 (GRCm39)	F173L	probably benign	Het
Mroh4	G	C	15: 74,486,141 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,248,864 (GRCm39)	V723A	probably benign	Het
Mybph	T	G	1: 134,125,492 (GRCm39)	I279S	probably damaging	Het
Myh4	A	T	11: 67,151,152 (GRCm39)	I1936L	probably benign	Het
Myo1h	A	T	5: 114,493,270 (GRCm39)	T704S	probably benign	Het
Nav2	C	A	7: 49,254,333 (GRCm39)	T2377K	probably benign	Het
Nipbl	T	G	15: 8,390,440 (GRCm39)	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 19,758,440 (GRCm39)	L559P	probably damaging	Het
Nup210l	T	A	3: 90,096,745 (GRCm39)	V1318E	probably damaging	Het
Or1e26	A	G	11: 73,480,283 (GRCm39)	Y94H	probably damaging	Het
Or6c8b	C	A	10: 128,882,342 (GRCm39)	V197F	possibly damaging	Het
Or7e178	A	G	9: 20,225,707 (GRCm39)	S170P	probably benign	Het
P2ry13	T	C	3: 59,116,987 (GRCm39)	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,198,710 (GRCm39)	L966P	probably benign	Het
Prss35	A	G	9: 86,637,404 (GRCm39)	K58R	probably benign	Het
Ptafr	T	A	4: 132,307,390 (GRCm39)	L260*	probably null	Het
Pum1	A	T	4: 130,507,116 (GRCm39)	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf145	A	G	11: 44,445,991 (GRCm39)	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,346,554 (GRCm39)	K218N	possibly damaging	Het
Rps6	T	C	4: 86,774,218 (GRCm39)	T128A	probably benign	Het
Ryr1	G	T	7: 28,767,013 (GRCm39)		probably benign	Het
Scel	A	T	14: 103,767,420 (GRCm39)	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,847,111 (GRCm39)	D57E	probably benign	Het
Slc35d1	A	C	4: 103,048,044 (GRCm39)	L240R	probably damaging	Het
Smcr8	A	G	11: 60,670,576 (GRCm39)	I575V	probably benign	Het
Spata31e4	T	C	13: 50,857,346 (GRCm39)	Y995H	probably benign	Het
Syk	G	A	13: 52,794,695 (GRCm39)	M476I	probably damaging	Het
Tbcel	A	T	9: 42,348,539 (GRCm39)		probably benign	Het
Tob2	C	A	15: 81,742,424 (GRCm39)	G65W	probably damaging	Het
Trim16	A	G	11: 62,731,520 (GRCm39)	N464D	probably benign	Het
Trim36	T	C	18: 46,332,776 (GRCm39)		probably benign	Het
Trpv4	C	A	5: 114,768,590 (GRCm39)		probably benign	Het
Tsga10	T	A	1: 37,879,600 (GRCm39)	T64S	possibly damaging	Het
Vars2	A	T	17: 35,975,756 (GRCm39)		probably benign	Het
Vmn1r72	C	A	7: 11,403,621 (GRCm39)	V276L	probably benign	Het
Vps13a	T	A	19: 16,655,333 (GRCm39)	K1898N	probably benign	Het
Vps18	A	G	2: 119,127,645 (GRCm39)	M823V	probably damaging	Het
Washc2	T	C	6: 116,197,484 (GRCm39)		probably benign	Het
Zfp763	A	T	17: 33,238,721 (GRCm39)	H141Q	probably benign	Het

Other mutations in Or4z4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Or4z4	APN	19	12,076,769 (GRCm39)	missense	probably benign	0.00
IGL01520:Or4z4	APN	19	12,077,000 (GRCm39)	start codon destroyed	probably null	0.98
IGL01768:Or4z4	APN	19	12,076,403 (GRCm39)	missense	probably damaging	1.00
IGL02060:Or4z4	APN	19	12,076,824 (GRCm39)	missense	probably damaging	1.00
IGL02328:Or4z4	APN	19	12,076,146 (GRCm39)	missense	probably damaging	1.00
R1264:Or4z4	UTSW	19	12,076,198 (GRCm39)	missense	probably benign	0.42
R1702:Or4z4	UTSW	19	12,076,530 (GRCm39)	missense	probably benign	0.25
R1709:Or4z4	UTSW	19	12,076,245 (GRCm39)	missense	probably damaging	1.00
R4781:Or4z4	UTSW	19	12,076,731 (GRCm39)	missense	probably benign	0.01
R4821:Or4z4	UTSW	19	12,076,110 (GRCm39)	missense	probably benign	0.00
R5509:Or4z4	UTSW	19	12,076,341 (GRCm39)	missense	possibly damaging	0.94
R5668:Or4z4	UTSW	19	12,076,290 (GRCm39)	missense	probably damaging	0.99
R6156:Or4z4	UTSW	19	12,076,484 (GRCm39)	missense	possibly damaging	0.87
R6619:Or4z4	UTSW	19	12,076,727 (GRCm39)	missense	probably damaging	0.99
R6950:Or4z4	UTSW	19	12,076,754 (GRCm39)	missense	probably benign	0.00
R7008:Or4z4	UTSW	19	12,076,214 (GRCm39)	missense	possibly damaging	0.68
R7991:Or4z4	UTSW	19	12,076,190 (GRCm39)	missense	possibly damaging	0.90
R9100:Or4z4	UTSW	19	12,076,254 (GRCm39)	missense	probably benign	0.06
R9301:Or4z4	UTSW	19	12,076,826 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGAGTGGACAAAGCCTCCAACC -3'
(R):5'- GTGGCCTTACCCAGTCTCAAGAAC -3'

Sequencing Primer
(F):5'- CTCATGATGGTCACATAGTGCAG -3'
(R):5'- TTACCCAGTCTCAAGAACTGAGC -3'

Posted On

2013-05-09