Mutagenetix > Incidental Mutation

Incidental Mutation 'R8238:Pard6a'

637466

Institutional Source

Beutler Lab

Gene Symbol

Pard6a

Ensembl Gene

ENSMUSG00000005699

Gene Name

par-6 family cell polarity regulator alpha

Synonyms

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

MMRRC Submission

067670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106427780-106430126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106429366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 138 (D138G)

Ref Sequence

ENSEMBL: ENSMUSP00000090886 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000093195
AA Change: D138G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699
AA Change: D138G

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 damaging
Transcript: ENSMUST00000098444
AA Change: D122G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699
AA Change: D122G

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: D108G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

probably damaging
Transcript: ENSMUST00000212352
AA Change: D121G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212430
AA Change: D137G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

100% (34/34)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	G	8: 44,103,993 (GRCm39)	Y551H	probably damaging	Het
Ak1	T	A	2: 32,523,681 (GRCm39)	V198D	probably damaging	Het
Alx1	C	T	10: 102,858,076 (GRCm39)	D208N	possibly damaging	Het
Aoc1l3	A	G	6: 48,966,975 (GRCm39)	E641G	probably damaging	Het
Atp5f1b	T	A	10: 127,921,019 (GRCm39)	I182N	possibly damaging	Het
Cabp5	T	A	7: 13,139,377 (GRCm39)	M134K	probably damaging	Het
Camsap2	A	T	1: 136,221,764 (GRCm39)	I227N	probably benign	Het
Cfap44	G	A	16: 44,235,668 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,988,842 (GRCm39)		probably null	Het
Etl4	C	T	2: 20,811,342 (GRCm39)	R1510*	probably null	Het
Fgr	C	T	4: 132,724,832 (GRCm39)	A311V	probably damaging	Het
Glipr1	C	T	10: 111,829,345 (GRCm39)		probably null	Het
Gm10799	A	G	2: 103,898,496 (GRCm39)	F70L	probably benign	Het
Gm14412	A	T	2: 177,007,111 (GRCm39)	H261Q	unknown	Het
Hey2	T	A	10: 30,716,659 (GRCm39)	M35L	probably benign	Het
Hspb7	A	G	4: 141,149,857 (GRCm39)	Y81C	probably damaging	Het
Ipo5	A	T	14: 121,172,652 (GRCm39)	K570M	probably damaging	Het
Iqsec1	A	T	6: 90,666,912 (GRCm39)	H404Q	probably benign	Het
Kif5b	T	A	18: 6,227,619 (GRCm39)	Q86L	probably damaging	Het
Lrrtm4	T	A	6: 79,999,668 (GRCm39)	I360N	probably damaging	Het
Mup6	T	A	4: 60,003,634 (GRCm39)	V29E	probably damaging	Het
Ncstn	G	T	1: 171,900,043 (GRCm39)	A277E	probably damaging	Het
Nsun3	A	G	16: 62,591,076 (GRCm39)	V189A	probably damaging	Het
Oaf	C	T	9: 43,150,642 (GRCm39)	D77N	probably damaging	Het
Or13a27	A	C	7: 139,925,803 (GRCm39)	L33W	probably damaging	Het
Or55b10	T	C	7: 102,143,827 (GRCm39)	T52A	possibly damaging	Het
Ppp4r4	A	C	12: 103,557,066 (GRCm39)	H434P	probably benign	Het
Sec23b	T	C	2: 144,406,568 (GRCm39)	I121T	probably benign	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc7a14	C	A	3: 31,281,300 (GRCm39)	V337L	probably benign	Het
Tdh	C	T	14: 63,733,173 (GRCm39)	G206E	probably damaging	Het
Vmn1r231	T	C	17: 21,110,640 (GRCm39)	T92A	probably benign	Het
Vmn2r36	T	G	7: 7,892,015 (GRCm39)	H431P	probably benign	Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps11	T	C	9: 44,264,057 (GRCm39)	T759A	probably benign	Het
Xdh	G	T	17: 74,193,412 (GRCm39)	Q1295K	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
IGL00236:Pard6a	APN	8	106,429,446 (GRCm39)	missense	probably damaging	1.00
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
R8523:Pard6a	UTSW	8	106,428,881 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCTATCACAGGCCCAATTG -3'
(R):5'- CAAGGATCTCATCACTGACCGC -3'

Sequencing Primer
(F):5'- GGGAGAAGTCTCTAATCTTAGTCCC -3'
(R):5'- AGCAGCCCTGTACTCTCAG -3'

Posted On

2020-07-13