Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Pard3b'

41546

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

038665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0465 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 62211718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000046673

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062

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: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	A	G	2: 148,783,425	N93S	probably benign	Het
Adgre4	T	A	17: 55,785,137		probably benign	Het
Ankrd13a	T	A	5: 114,804,234	I526N	probably damaging	Het
Aox1	G	A	1: 58,062,207	V446I	probably damaging	Het
Arid1b	G	A	17: 4,996,260	G441D	possibly damaging	Het
BC027072	A	G	17: 71,750,160	C841R	probably benign	Het
Bdkrb2	A	T	12: 105,591,859	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,146,586	V80I	probably damaging	Het
Camkmt	T	A	17: 85,431,522	F225L	probably damaging	Het
Carf	T	C	1: 60,131,983	M200T	probably damaging	Het
Carmil3	T	C	14: 55,499,861	L767P	probably damaging	Het
Cdk14	T	A	5: 5,093,019	R237S	probably damaging	Het
Cdx2	C	A	5: 147,306,473	K170N	possibly damaging	Het
Cfap65	G	A	1: 74,916,884	R1093C	possibly damaging	Het
Cnot8	T	A	11: 58,114,060	V195E	probably damaging	Het
Copa	T	C	1: 172,118,305	F936S	probably damaging	Het
Dnaic1	T	A	4: 41,629,988		probably null	Het
Dsel	T	C	1: 111,862,262	N181S	probably benign	Het
Enpp7	A	G	11: 118,988,781	N87S	probably damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm12695	T	C	4: 96,785,075	Y29C	probably damaging	Het
Gm5592	T	A	7: 41,156,057		probably benign	Het
Gmnc	T	G	16: 26,962,952	N109T	probably damaging	Het
Gstcd	A	G	3: 132,983,144	I615T	probably benign	Het
Hal	A	C	10: 93,516,284	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,352,041	I472V	probably null	Het
Ift27	A	T	15: 78,173,758		probably benign	Het
Iqub	A	T	6: 24,503,784	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,931,680	V66E	probably benign	Het
Itgb4	T	C	11: 115,979,756	M137T	probably damaging	Het
Lca5	T	A	9: 83,395,867	K475*	probably null	Het
Lyve1	A	G	7: 110,852,827		probably null	Het
Map3k19	T	C	1: 127,838,527	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204		probably benign	Het
Mmp15	T	C	8: 95,367,998	W167R	probably damaging	Het
Ms4a13	A	G	19: 11,172,593	C135R	probably benign	Het
Myh1	A	G	11: 67,210,417	H673R	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Oas2	A	G	5: 120,735,055	I645T	probably damaging	Het
Olfr605	A	T	7: 103,442,835	F96Y	possibly damaging	Het
Patj	T	A	4: 98,535,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Rab34	C	A	11: 78,190,511	C67*	probably null	Het
Rimbp3	T	C	16: 17,211,780	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,685	N104S	probably benign	Het
Rpa1	T	C	11: 75,313,095	T288A	probably damaging	Het
Scn9a	A	G	2: 66,526,996	L976P	probably damaging	Het
Serpina12	T	A	12: 104,037,845	D176V	probably benign	Het
Sik1	C	T	17: 31,855,022	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,749,276	R302L	probably benign	Het
Stambp	A	G	6: 83,570,339	I56T	probably benign	Het
Tac2	A	G	10: 127,729,170		probably benign	Het
Tecta	A	T	9: 42,359,418	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,333,264	R369C	probably benign	Het
Tnpo1	A	G	13: 98,884,634	I79T	probably damaging	Het
Ttll5	A	T	12: 85,933,326	N895Y	probably benign	Het
Ube2u	T	A	4: 100,532,096		probably benign	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Vmn2r1	T	C	3: 64,081,759	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,531,530	V612I	probably damaging	Het
Vmn2r59	G	T	7: 42,046,908	H137N	probably benign	Het
Vsig10l	T	C	7: 43,467,442	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,806		probably benign	Het
Xrra1	T	A	7: 99,879,371	D139E	probably benign	Het
Zc3h15	T	C	2: 83,663,815		probably benign	Het
Zfhx4	C	T	3: 5,245,656		probably benign	Het
Zscan18	A	G	7: 12,775,486		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
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
R4683:Pard3b	UTSW	1	62216516	missense	probably benign
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'- GCCGTCTCCGAATGAATGACCAAC -3'
(R):5'- CCTACCAATTTCTGAGCATAGGCCC -3'

Sequencing Primer
(F):5'- CTCCGAATGAATGACCAACTGATTG -3'
(R):5'- CCCTGGTAAACATAGACCTGTGATG -3'

Posted On

2013-05-23