Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01393:Pard6b'

79300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard6b

Ensembl Gene

ENSMUSG00000044641

Gene Name

par-6 family cell polarity regulator beta

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

168081004-168101203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 168087378 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 35 (S35T)

Ref Sequence

ENSEMBL: ENSMUSP00000052619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052125]

PDB Structure

Structure of Cdc42 in a complex with the GTPase-binding domain of the cell polarity protein, Par6 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000052125
AA Change: S35T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000052619
Gene: ENSMUSG00000044641
AA Change: S35T

Domain	Start	End	E-Value	Type
PB1	16	96	3.88e-18	SMART
PDZ	167	250	7.48e-14	SMART
low complexity region	287	301	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 36,096,422	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,626,614	Q60K	unknown	Het
Alpk2	A	G	18: 65,307,708	S205P	possibly damaging	Het
Ang4	T	A	14: 51,764,213	I93L	probably benign	Het
Arpin	A	G	7: 79,931,840	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,933,047	C263*	probably null	Het
C530008M17Rik	T	C	5: 76,858,971	S1060P	unknown	Het
Cd209f	T	C	8: 4,103,154	N260S	probably damaging	Het
Cdh20	A	G	1: 104,934,244	R50G	probably benign	Het
Csmd3	C	T	15: 48,457,599	V272I	possibly damaging	Het
Dst	A	T	1: 34,167,625	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,807,271	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,577,360		probably benign	Het
Fat2	T	C	11: 55,269,309	D3326G	probably benign	Het
Filip1l	A	G	16: 57,572,223	N820S	probably damaging	Het
Gm26566	G	A	4: 88,722,344		probably benign	Het
Gm4792	A	G	10: 94,298,442	L22P	unknown	Het
Gpat2	A	G	2: 127,432,651	E386G	probably damaging	Het
Grm3	T	C	5: 9,589,856	D63G	probably benign	Het
Hdc	A	G	2: 126,594,661	V430A	probably benign	Het
Hnf4a	T	C	2: 163,551,572		probably benign	Het
Il2ra	A	G	2: 11,683,054	D215G	probably damaging	Het
Kctd3	T	C	1: 189,000,290	I74V	probably benign	Het
Kctd5	A	T	17: 24,059,318		probably null	Het
Lrsam1	A	T	2: 32,955,173		probably benign	Het
Mblac1	A	G	5: 138,194,774	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,960,708		probably benign	Het
Mpp3	A	T	11: 102,025,478	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,448,006	A53S	possibly damaging	Het
Nbea	C	A	3: 56,005,308	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,404,174	K22R	probably null	Het
Olfr1298	A	G	2: 111,645,256	V247A	probably damaging	Het
Olfr350	G	A	2: 36,850,541	R165Q	probably benign	Het
Olfr700	C	T	7: 106,806,435	G9E	probably benign	Het
Peli1	T	C	11: 21,147,400	V215A	probably benign	Het
Pkp4	A	T	2: 59,347,925	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,631	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,694,544	S483P	probably benign	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,967,517	V210A	probably benign	Het
Rev1	A	G	1: 38,092,063	V168A	probably damaging	Het
Sez6l	G	T	5: 112,438,395		probably benign	Het
Spag17	A	G	3: 100,027,610	T711A	possibly damaging	Het
Spice1	A	G	16: 44,366,630	I163M	probably benign	Het
Tex13c1	C	T	X: 43,591,356	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,784,638	S806R	probably benign	Het
Tnc	A	G	4: 64,014,054		probably benign	Het
Tpbg	T	A	9: 85,844,092	V38E	unknown	Het
Unc13c	T	A	9: 73,540,270	I1883F	probably benign	Het
Vmn2r61	A	C	7: 42,266,834	Q290H	probably benign	Het
Vps39	A	G	2: 120,350,238		probably benign	Het
Zfp369	T	C	13: 65,294,474	V294A	possibly damaging	Het
Zfp821	T	A	8: 109,709,478		probably benign	Het
Zfp941	C	T	7: 140,811,928	G506E	probably damaging	Het

Other mutations in Pard6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02648:Pard6b	APN	2	168098927	missense	probably benign	0.17
R0462:Pard6b	UTSW	2	168087547	missense	possibly damaging	0.94
R1807:Pard6b	UTSW	2	168087412	missense	probably damaging	1.00
R3616:Pard6b	UTSW	2	168087339	splice site	probably benign
R3950:Pard6b	UTSW	2	168099194	missense	probably damaging	1.00
R4211:Pard6b	UTSW	2	168099023	missense	probably benign	0.04
R4776:Pard6b	UTSW	2	168098788	missense	probably damaging	1.00
R5687:Pard6b	UTSW	2	168098626	missense	probably damaging	1.00
R6053:Pard6b	UTSW	2	168099053	missense	possibly damaging	0.77
Z1177:Pard6b	UTSW	2	168098583	nonsense	probably null

Posted On

2013-11-05