Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00236:Pard6a'

2303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard6a

Ensembl Gene

ENSMUSG00000005699

Gene Name

par-6 family cell polarity regulator alpha

Synonyms

Tip-40, 0710008C04Rik, PAR6alpha, TAX40, Par6c, 2610010A15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00236

Quality Score

Status

Chromosome

Chromosomal Location

106427780-106430126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106429446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 135 (S135P)

Ref Sequence

ENSEMBL: ENSMUSP00000148821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212430] [ENSMUST00000212352] [ENSMUST00000212061] [ENSMUST00000213019] [ENSMUST00000212642] [ENSMUST00000212650]

AlphaFold

Q9Z101

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042608

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

Domain	Start	End	E-Value	Type
Pfam:TPP1	11	118	2.4e-23	PFAM
low complexity region	259	272	N/A	INTRINSIC
low complexity region	296	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062574

SMART Domains

Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

Domain	Start	End	E-Value	Type
Pfam:CARMIL_C	149	442	3.3e-62	PFAM
low complexity region	467	484	N/A	INTRINSIC
low complexity region	631	659	N/A	INTRINSIC
low complexity region	696	727	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093195
AA Change: S165P

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699
AA Change: S165P

Domain	Start	End	E-Value	Type
PB1	15	95	2.81e-15	SMART
PDZ	167	250	1.38e-12	SMART
low complexity region	263	286	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098444
AA Change: S149P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699
AA Change: S149P

Domain	Start	End	E-Value	Type
PB1	4	79	1.28e-9	SMART
PDZ	151	234	1.38e-12	SMART
low complexity region	247	270	N/A	INTRINSIC
low complexity region	293	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211870

Predicted Effect

probably damaging
Transcript: ENSMUST00000211888
AA Change: S135P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000212430
AA Change: S164P

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212352
AA Change: S148P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

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 and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh1	A	G	12: 87,490,467 (GRCm39)	V43A	probably damaging	Het
Ankrd17	A	T	5: 90,381,787 (GRCm39)	S2460T	probably damaging	Het
Ap4e1	T	C	2: 126,870,201 (GRCm39)	L176P	probably damaging	Het
Caprin2	A	G	6: 148,744,569 (GRCm39)	I952T	probably damaging	Het
Cdkl4	A	T	17: 80,832,705 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,227,767 (GRCm39)	L156P	probably damaging	Het
Dock9	A	G	14: 121,905,880 (GRCm39)	L90S	probably benign	Het
Efhb	T	C	17: 53,769,481 (GRCm39)	D276G	probably damaging	Het
Ep300	A	G	15: 81,525,619 (GRCm39)	D1481G	unknown	Het
Fam83b	T	C	9: 76,398,260 (GRCm39)	I948V	probably benign	Het
Fbxl5	G	T	5: 43,922,678 (GRCm39)	H247N	probably damaging	Het
Fn1	A	G	1: 71,692,032 (GRCm39)	I37T	probably benign	Het
Hfe	C	T	13: 23,889,835 (GRCm39)		probably benign	Het
Ighv1-36	A	T	12: 114,843,770 (GRCm39)	L29Q	possibly damaging	Het
Inpp5e	G	T	2: 26,298,533 (GRCm39)	Q23K	probably benign	Het
L3mbtl1	T	C	2: 162,808,983 (GRCm39)	S619P	probably damaging	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Or51s1	T	C	7: 102,558,479 (GRCm39)	H189R	probably damaging	Het
Or5b124	A	T	19: 13,610,903 (GRCm39)	I143F	probably benign	Het
Prss43	G	T	9: 110,658,538 (GRCm39)	Q279H	probably benign	Het
Ptcd2	T	C	13: 99,466,573 (GRCm39)	N207D	probably benign	Het
Ros1	T	C	10: 52,070,986 (GRCm39)	I23V	probably benign	Het
Scg5	A	G	2: 113,657,915 (GRCm39)		probably benign	Het
Sh3bp5	T	A	14: 31,101,347 (GRCm39)	K212*	probably null	Het
Slc25a30	C	T	14: 76,004,365 (GRCm39)	G244D	possibly damaging	Het
Slc38a10	T	C	11: 119,997,428 (GRCm39)	R689G	probably damaging	Het
Spatc1	A	G	15: 76,168,994 (GRCm39)	D321G	probably damaging	Het
Stat4	A	T	1: 52,142,037 (GRCm39)	Y628F	probably damaging	Het
Wdr35	G	A	12: 9,069,900 (GRCm39)	V813I	probably benign	Het

Other mutations in Pard6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Pard6a	APN	8	106,429,833 (GRCm39)	missense	probably benign	0.00
IGL01453:Pard6a	APN	8	106,429,309 (GRCm39)	splice site	probably null
IGL02044:Pard6a	APN	8	106,429,651 (GRCm39)	missense	probably damaging	0.99
R1209:Pard6a	UTSW	8	106,429,023 (GRCm39)	missense	probably benign	0.10
R5618:Pard6a	UTSW	8	106,429,546 (GRCm39)	missense	probably damaging	1.00
R6208:Pard6a	UTSW	8	106,428,866 (GRCm39)	missense	probably damaging	0.98
R8085:Pard6a	UTSW	8	106,429,642 (GRCm39)	missense	probably damaging	1.00
R8238:Pard6a	UTSW	8	106,429,366 (GRCm39)	missense	probably damaging	1.00
R8523:Pard6a	UTSW	8	106,428,881 (GRCm39)	missense	probably benign

Posted On

2011-12-09