Mutagenetix > Incidental Mutation

Incidental Mutation 'R4683:Pard3b'

350096

Institutional Source

Beutler Lab

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

PAR3beta, 1810008K04Rik, 2810455B10Rik, PAR3B, 2010002N16Rik, Als2cr19, PAR3L

MMRRC Submission

041935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62216516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 629 (Y629H)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046673] [ENSMUST00000075374] [ENSMUST00000094906]

AlphaFold

Q9CSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000046673
AA Change: Y567H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: Y567H

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	1.2e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
internal_repeat_1	479	515	4.63e-5	PROSPERO
low complexity region	527	537	N/A	INTRINSIC
low complexity region	594	601	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
coiled coil region	761	808	N/A	INTRINSIC
coiled coil region	839	866	N/A	INTRINSIC
low complexity region	1075	1083	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075374
AA Change: Y629H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: Y629H

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	8.2e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
low complexity region	487	498	N/A	INTRINSIC
PDZ	507	592	6.17e-15	SMART
low complexity region	656	663	N/A	INTRINSIC
low complexity region	739	750	N/A	INTRINSIC
coiled coil region	823	870	N/A	INTRINSIC
coiled coil region	901	928	N/A	INTRINSIC
low complexity region	1137	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094906
AA Change: Y629H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: Y629H

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	1.1e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
low complexity region	487	498	N/A	INTRINSIC
PDZ	507	592	6.17e-15	SMART
low complexity region	656	663	N/A	INTRINSIC
low complexity region	739	750	N/A	INTRINSIC
coiled coil region	823	870	N/A	INTRINSIC
low complexity region	901	913	N/A	INTRINSIC
low complexity region	1038	1046	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
Ackr3	T	C	1: 90,213,987	V56A	probably damaging	Het
Acyp1	A	G	12: 85,278,943		probably benign	Het
Adgrb1	A	T	15: 74,588,114	K532I	probably damaging	Het
Ahrr	T	A	13: 74,224,766		silent	Het
Asz1	T	C	6: 18,055,542		probably benign	Het
AW554918	T	C	18: 25,339,795	Y219H	probably benign	Het
Ccno	C	A	13: 112,989,009		probably null	Het
Cdh17	A	T	4: 11,817,036	N816Y	possibly damaging	Het
Clca4a	C	T	3: 144,954,940	V708I	probably damaging	Het
Col6a3	T	A	1: 90,773,457	Y2579F	unknown	Het
Col6a4	A	G	9: 106,080,130	V165A	probably benign	Het
Csf1r	T	A	18: 61,124,911	C651S	probably damaging	Het
Cyp4f14	T	C	17: 32,908,011	D315G	probably null	Het
Def6	A	G	17: 28,217,635	D91G	probably damaging	Het
Dmxl1	T	G	18: 49,878,021	S1082A	probably damaging	Het
Dnah2	A	T	11: 69,458,942	Y2392N	probably damaging	Het
Dsg4	T	C	18: 20,461,409	S532P	probably benign	Het
Efr3a	C	A	15: 65,819,801	S126R	probably damaging	Het
Gab1	A	C	8: 80,788,632	H352Q	probably benign	Het
Gm1110	A	G	9: 26,920,594	M87T	probably damaging	Het
Gm14124	T	A	2: 150,266,470	H50Q	possibly damaging	Het
Greb1	C	T	12: 16,711,773	M535I	possibly damaging	Het
Greb1l	T	A	18: 10,529,563		probably null	Het
Gucy2d	T	C	7: 98,453,443	C487R	probably benign	Het
H1fnt	A	T	15: 98,257,040	I76N	probably damaging	Het
Lrrc2	A	T	9: 110,962,546	H122L	possibly damaging	Het
Mrps22	A	T	9: 98,598,306		probably null	Het
Mxd3	T	C	13: 55,325,800	T202A	probably benign	Het
Neb	T	C	2: 52,244,062	H3303R	possibly damaging	Het
Nup133	G	A	8: 123,930,982	R405*	probably null	Het
Olfr127	A	G	17: 37,904,148	T201A	probably benign	Het
Olfr525	T	C	7: 140,322,768	L23P	probably benign	Het
Pcnx	A	G	12: 81,986,672	D1781G	probably benign	Het
Pcsk5	A	T	19: 17,473,041	C1148S	probably damaging	Het
Pcsk9	A	T	4: 106,458,895	I117N	possibly damaging	Het
Pcyt1b	C	A	X: 93,746,364	P318H	probably damaging	Het
Pfkfb2	T	A	1: 130,706,484		probably null	Het
Pi4ka	T	C	16: 17,297,037	E1456G	possibly damaging	Het
Sh2b2	C	T	5: 136,231,720	C214Y	probably damaging	Het
Slc52a2	C	A	15: 76,540,233	P224T	probably damaging	Het
Slf2	C	G	19: 44,935,481	R245G	probably benign	Het
Sox5	T	C	6: 143,833,467	S648G	probably damaging	Het
Stk36	T	A	1: 74,634,185	I1079N	probably benign	Het
Stxbp3	T	C	3: 108,800,872	D371G	probably damaging	Het
Trnau1ap	A	T	4: 132,321,752	Y47N	probably damaging	Het
Ubr5	C	T	15: 38,037,967	R316H	probably damaging	Het
Vmn1r230	C	T	17: 20,847,253	R235C	probably benign	Het
Wnt10a	C	T	1: 74,803,137	H93Y	unknown	Het
Zfp52	A	G	17: 21,561,507	D539G	probably benign	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pard3b	APN	1	62161198	missense	probably damaging	0.99
IGL01363:Pard3b	APN	1	62637640	missense	probably damaging	1.00
IGL01509:Pard3b	APN	1	62161248	missense	possibly damaging	0.54
IGL01611:Pard3b	APN	1	62637862	missense	probably damaging	0.96
IGL01651:Pard3b	APN	1	62479804	intron	probably benign
IGL01670:Pard3b	APN	1	62211648	missense	probably damaging	1.00
IGL02156:Pard3b	APN	1	61767950	missense	possibly damaging	0.84
IGL02232:Pard3b	APN	1	62166382	missense	probably damaging	1.00
IGL02450:Pard3b	APN	1	62532676	missense	possibly damaging	0.68
IGL03064:Pard3b	APN	1	62198771	splice site	probably benign
R0040:Pard3b	UTSW	1	62637820	missense	probably damaging	1.00
R0040:Pard3b	UTSW	1	62637820	missense	probably damaging	1.00
R0060:Pard3b	UTSW	1	61639315	missense	probably damaging	0.97
R0157:Pard3b	UTSW	1	62211633	missense	probably damaging	0.96
R0333:Pard3b	UTSW	1	62230212	missense	probably benign	0.00
R0448:Pard3b	UTSW	1	62166469	missense	probably damaging	1.00
R0465:Pard3b	UTSW	1	62211718	splice site	probably benign
R0497:Pard3b	UTSW	1	62440008	splice site	probably null
R1264:Pard3b	UTSW	1	62164157	missense	probably damaging	1.00
R1468:Pard3b	UTSW	1	62345029	missense	probably benign	0.00
R1468:Pard3b	UTSW	1	62345029	missense	probably benign	0.00
R1482:Pard3b	UTSW	1	62166367	missense	probably damaging	1.00
R1554:Pard3b	UTSW	1	62637894	missense	probably damaging	0.97
R1836:Pard3b	UTSW	1	62637604	missense	probably benign	0.03
R2005:Pard3b	UTSW	1	62144891	missense	probably benign	0.12
R2220:Pard3b	UTSW	1	62479683	nonsense	probably null
R2435:Pard3b	UTSW	1	62587738	missense	probably damaging	1.00
R3015:Pard3b	UTSW	1	62344878	missense	probably damaging	1.00
R3688:Pard3b	UTSW	1	62479569	missense	probably benign
R3712:Pard3b	UTSW	1	62343978	missense	probably damaging	1.00
R3799:Pard3b	UTSW	1	62161229	missense	probably benign	0.06
R3942:Pard3b	UTSW	1	62159452	missense	probably damaging	1.00
R4729:Pard3b	UTSW	1	62211684	missense	probably damaging	1.00
R4898:Pard3b	UTSW	1	61768000	missense	probably damaging	1.00
R4981:Pard3b	UTSW	1	62344060	missense	probably damaging	1.00
R5049:Pard3b	UTSW	1	62161161	missense	probably benign	0.01
R5223:Pard3b	UTSW	1	62344113	missense	probably damaging	1.00
R5476:Pard3b	UTSW	1	62010406	missense	probably benign	0.10
R5541:Pard3b	UTSW	1	61639343	missense	probably damaging	1.00
R5672:Pard3b	UTSW	1	62010466	missense	probably benign	0.11
R5714:Pard3b	UTSW	1	62637916	missense	probably null	0.99
R5722:Pard3b	UTSW	1	62440001	splice site	probably null
R5793:Pard3b	UTSW	1	61767973	missense	probably damaging	1.00
R5930:Pard3b	UTSW	1	61768130	intron	probably benign
R5950:Pard3b	UTSW	1	62216531	missense	probably benign	0.04
R5997:Pard3b	UTSW	1	62076409	missense	probably damaging	1.00
R6646:Pard3b	UTSW	1	62161121	missense	probably benign	0.32
R6720:Pard3b	UTSW	1	62159470	missense	probably damaging	0.99
R6809:Pard3b	UTSW	1	62161181	missense	probably damaging	1.00
R7148:Pard3b	UTSW	1	62440032	missense	probably benign	0.01
R7847:Pard3b	UTSW	1	62343934	missense	probably benign	0.00
R7879:Pard3b	UTSW	1	62159511	missense	possibly damaging	0.65
R8048:Pard3b	UTSW	1	62153989	missense	probably damaging	1.00
R8125:Pard3b	UTSW	1	61767984	missense	probably damaging	1.00
R8329:Pard3b	UTSW	1	62637798	missense	probably benign	0.30
R8766:Pard3b	UTSW	1	62159478	missense	probably benign	0.35
R8833:Pard3b	UTSW	1	62344999	missense	probably benign	0.00
R8889:Pard3b	UTSW	1	62637867	missense	probably damaging	0.97
R8892:Pard3b	UTSW	1	62637867	missense	probably damaging	0.97
R8907:Pard3b	UTSW	1	62344135	missense	probably benign	0.39
R8909:Pard3b	UTSW	1	62344135	missense	probably benign	0.39
R9215:Pard3b	UTSW	1	62164185	missense	probably damaging	1.00
R9310:Pard3b	UTSW	1	62166369	missense	probably damaging	0.99
R9542:Pard3b	UTSW	1	62211627	nonsense	probably null
Z1176:Pard3b	UTSW	1	62238892	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACAAGGACCAGTCTTGCAC -3'
(R):5'- GCTCATGACTCTGAGTGACAAAG -3'

Sequencing Primer
(F):5'- AGGACCAGTCTTGCACTCAGC -3'
(R):5'- TGACTCTGAGTGACAAAGTCTACAC -3'

Posted On

2015-10-08