Mutagenetix > Incidental Mutation

Incidental Mutation 'R5618:Pard6a'

439643

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

043277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106427780-106430126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106429546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 168 (V168A)

Ref Sequence

ENSEMBL: ENSMUSP00000148821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212430] [ENSMUST00000212352] [ENSMUST00000212650] [ENSMUST00000212061] [ENSMUST00000212642] [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 benign
Transcript: ENSMUST00000093195
AA Change: V198A

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699
AA Change: V198A

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

possibly damaging
Transcript: ENSMUST00000098444
AA Change: V182A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699
AA Change: V182A

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: V168A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212430
AA Change: V197A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212352
AA Change: V181A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	G	A	5: 107,696,065 (GRCm39)	W167*	probably null	Het
Acvr1	C	T	2: 58,352,955 (GRCm39)	R335Q	probably damaging	Het
Atg7	A	G	6: 114,650,660 (GRCm39)	D67G	probably damaging	Het
Avil	T	C	10: 126,846,446 (GRCm39)	F417S	possibly damaging	Het
AW551984	A	T	9: 39,502,000 (GRCm39)	L702Q	probably damaging	Het
Bcl7a	A	T	5: 123,499,265 (GRCm39)	N95Y	probably damaging	Het
Cblb	A	G	16: 51,973,031 (GRCm39)	D454G	possibly damaging	Het
Cc2d2a	A	T	5: 43,887,249 (GRCm39)	Q1226H	probably benign	Het
Cct5	A	G	15: 31,598,161 (GRCm39)	S13P	possibly damaging	Het
Clca3a1	C	T	3: 144,710,738 (GRCm39)	E822K	probably benign	Het
Csgalnact2	A	T	6: 118,103,277 (GRCm39)	D228E	probably damaging	Het
Defb12	A	T	8: 19,164,814 (GRCm39)	M8K	possibly damaging	Het
Dipk1b	T	C	2: 26,524,887 (GRCm39)	S96P	probably damaging	Het
Dysf	A	G	6: 84,083,806 (GRCm39)	D736G	probably benign	Het
Exog	G	T	9: 119,291,817 (GRCm39)	D365Y	probably damaging	Het
Fam222b	T	G	11: 78,045,066 (GRCm39)	V81G	probably benign	Het
Fbl	A	G	7: 27,878,411 (GRCm39)	E301G	probably damaging	Het
Fez1	A	T	9: 36,755,228 (GRCm39)	N76Y	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
H2-Q4	T	A	17: 35,598,901 (GRCm39)	F57Y	probably damaging	Het
Ift88	T	C	14: 57,718,965 (GRCm39)	I650T	possibly damaging	Het
Kif1b	A	T	4: 149,354,346 (GRCm39)	D231E	possibly damaging	Het
Lig4	A	T	8: 10,022,021 (GRCm39)	D586E	probably benign	Het
Mlc1	C	A	15: 88,858,769 (GRCm39)	L126F	probably damaging	Het
Muc4	A	G	16: 32,754,253 (GRCm38)	T1376A	probably benign	Het
Ncoa6	A	T	2: 155,279,817 (GRCm39)	D66E	possibly damaging	Het
Or6ae1	A	G	7: 139,742,185 (GRCm39)	V226A	probably damaging	Het
Or8b44	C	T	9: 38,410,036 (GRCm39)	Q24*	probably null	Het
Pmpcb	A	G	5: 21,947,786 (GRCm39)	N163S	possibly damaging	Het
Pramel27	A	T	4: 143,577,263 (GRCm39)	E15V	possibly damaging	Het
Prdm2	C	T	4: 142,860,107 (GRCm39)	C1061Y	probably benign	Het
Prkdc	A	G	16: 15,627,476 (GRCm39)	Y3378C	probably damaging	Het
Sema6a	A	T	18: 47,415,015 (GRCm39)	V425E	probably damaging	Het
Sema7a	A	T	9: 57,867,566 (GRCm39)	E439D	possibly damaging	Het
Serpinf1	T	A	11: 75,301,010 (GRCm39)	T402S	possibly damaging	Het
Sf3a2	T	C	10: 80,640,410 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,321,545 (GRCm39)	S1346T	probably benign	Het
Smchd1	A	T	17: 71,762,722 (GRCm39)	D172E	probably damaging	Het
Spag5	T	G	11: 78,194,906 (GRCm39)	I71S	probably benign	Het
Spata31d1d	G	A	13: 59,874,214 (GRCm39)	A1107V	probably benign	Het
Svep1	A	C	4: 58,070,537 (GRCm39)	S2416R	probably benign	Het
Tbc1d9	A	G	8: 83,969,221 (GRCm39)	Y503C	probably damaging	Het
Tlr9	A	T	9: 106,101,938 (GRCm39)	I410F	possibly damaging	Het
Tmem87a	C	A	2: 120,199,787 (GRCm39)	L452F	probably benign	Het
Tmprss11d	A	T	5: 86,454,154 (GRCm39)	M217K	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vmn2r80	T	C	10: 78,984,755 (GRCm39)	Y36H	probably benign	Het
Vmn2r87	A	T	10: 130,315,817 (GRCm39)	F83Y	probably damaging	Het
Vmp1	C	T	11: 86,554,388 (GRCm39)	R75H	probably benign	Het
Wapl	T	A	14: 34,413,863 (GRCm39)	Y242N	possibly damaging	Het
Zfp473	T	A	7: 44,391,156 (GRCm39)	D6V	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
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'- TTTCCGCCAGGTGTCTTCAG -3'
(R):5'- CGTCACTGTCAGGATCAGTAGG -3'

Sequencing Primer
(F):5'- GTTATAGATGTGGACCTACTACCTG -3'
(R):5'- TGTCAGGATCAGTAGGCCCAG -3'

Posted On

2016-11-08