Mutagenetix > Incidental Mutation

Incidental Mutation 'R1209:Pard6a'

100597

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

039278-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106427780-106430126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106429023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 78 (K78R)

Ref Sequence

ENSEMBL: ENSMUSP00000148508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000213019] [ENSMUST00000212061] [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: K94R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699
AA Change: K94R

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: K78R

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

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699
AA Change: K78R

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 benign
Transcript: ENSMUST00000211888

Predicted Effect

probably benign
Transcript: ENSMUST00000212352
AA Change: K78R

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000212430
AA Change: K94R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212643

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.2%
20x: 85.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,839,629 (GRCm39)	D180G	probably damaging	Het
Aopep	A	G	13: 63,338,878 (GRCm39)		probably null	Het
Banp	G	A	8: 122,702,656 (GRCm39)	V30I	possibly damaging	Het
Btn2a2	C	T	13: 23,664,736 (GRCm39)		probably null	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cdhr1	C	T	14: 36,804,899 (GRCm39)		probably null	Het
Cfap44	T	C	16: 44,242,780 (GRCm39)	I728T	possibly damaging	Het
Fbn2	A	G	18: 58,203,088 (GRCm39)	M1212T	probably benign	Het
Fmo3	C	T	1: 162,791,597 (GRCm39)	D227N	probably benign	Het
Klk1b5	G	T	7: 43,496,422 (GRCm39)	R118L	probably damaging	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Muc5b	A	G	7: 141,411,647 (GRCm39)	N1531S	unknown	Het
Mypn	A	G	10: 62,954,278 (GRCm39)	S1234P	probably damaging	Het
Nme5	A	G	18: 34,702,949 (GRCm39)	L113S	probably damaging	Het
Oprk1	T	C	1: 5,672,484 (GRCm39)	V207A	probably benign	Het
Or13a20	A	G	7: 140,231,927 (GRCm39)	T12A	probably benign	Het
Or4f52	T	C	2: 111,061,958 (GRCm39)	Y60C	probably damaging	Het
Otop2	A	G	11: 115,215,469 (GRCm39)	E130G	possibly damaging	Het
Pbrm1	T	A	14: 30,840,809 (GRCm39)	L1637H	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnaset2b	T	A	17: 7,246,475 (GRCm39)	C27S	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Speer4a1	T	C	5: 26,240,123 (GRCm39)		probably null	Het
Srsf4	A	G	4: 131,628,370 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,147 (GRCm39)	R79C	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tmem132d	T	A	5: 127,861,934 (GRCm39)	D729V	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCCGACGCTTTGCACTACC -3'
(R):5'- ACTGAAGACACCTGGCGGAAATC -3'

Sequencing Primer
(F):5'- ACTTCGGTGAGAGGCTTTCAG -3'
(R):5'- GGACTAAGATTAGAGACTTCTCCC -3'

Posted On

2014-01-15