Mutagenetix > Incidental Mutation

Incidental Mutation 'R8125:Pard3b'

631678

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61767984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 53 (Y53H)

Ref Sequence

ENSEMBL: ENSMUSP00000074837 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

PDB Structure

Solution structure of PDZ domain in protein XP_110852 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046673
AA Change: Y53H

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

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: Y53H

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 damaging
Transcript: ENSMUST00000075374
AA Change: Y53H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: Y53H

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 damaging
Transcript: ENSMUST00000094906
AA Change: Y53H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: Y53H

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

Meta Mutation Damage Score

0.1430

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,475,652	T143K	probably benign	Het
4933434E20Rik	T	A	3: 90,065,511	V74D	possibly damaging	Het
Acot11	C	T	4: 106,760,080		probably null	Het
Adam20	A	T	8: 40,794,936	I28L	probably benign	Het
Adamtsl3	A	G	7: 82,450,333		probably null	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahnak	C	T	19: 9,011,876	A3508V	possibly damaging	Het
Arhgap20	T	C	9: 51,826,909	I235T	probably damaging	Het
B4galnt3	T	C	6: 120,224,593	T164A	probably damaging	Het
Brip1	A	G	11: 86,186,991	S204P	possibly damaging	Het
Ccdc185	C	A	1: 182,747,270	S618I	probably benign	Het
Ckap5	T	A	2: 91,576,269	I805K	probably damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Cmtm2a	A	T	8: 104,292,711	I82N	probably damaging	Het
Corin	T	A	5: 72,358,463	H416L	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Cygb	T	A	11: 116,649,290	T178S	probably benign	Het
Dchs1	T	C	7: 105,764,882	T909A	possibly damaging	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dmbt1	A	G	7: 131,099,223	T1218A	unknown	Het
E330021D16Rik	T	G	6: 136,401,186	R215S	possibly damaging	Het
Ebf1	T	C	11: 44,972,915	I364T	probably damaging	Het
Efcab10	C	A	12: 33,398,314	R49S	probably damaging	Het
Eif2b1	G	A	5: 124,579,099		probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
Fam205c	A	G	4: 42,873,051	L80P	probably damaging	Het
Gm49358	T	A	10: 86,820,993	F273Y		Het
Gria2	T	A	3: 80,707,243	I497F	possibly damaging	Het
Ipo9	T	C	1: 135,403,340	T426A	probably benign	Het
Klhl11	T	C	11: 100,463,985	I337V	probably benign	Het
Krtap19-5	A	T	16: 88,896,348	Y25*	probably null	Het
Lamb2	T	G	9: 108,487,523	S1159A	probably benign	Het
Mpig6b	A	T	17: 35,065,352	L154Q	probably damaging	Het
Mrpl28	T	C	17: 26,124,620	I118T	probably damaging	Het
Msh3	A	T	13: 92,299,182	N536K	probably benign	Het
Myh8	A	G	11: 67,299,772	K1308E	possibly damaging	Het
Nav3	C	A	10: 109,852,659	G586W	probably damaging	Het
Ncoa7	T	C	10: 30,694,091	K291E	possibly damaging	Het
Nr5a1	C	T	2: 38,701,981	V327I	probably damaging	Het
Nup85	TACAAGACAA	TACAA	11: 115,578,237		probably null	Het
Olfr1284	T	C	2: 111,379,741	V247A	probably damaging	Het
Olfr1291-ps1	A	T	2: 111,499,987	D245V	possibly damaging	Het
Olfr99	A	T	17: 37,280,044	H125Q	probably benign	Het
Pcyox1l	G	A	18: 61,707,505	P26L	unknown	Het
Pdzrn4	A	G	15: 92,743,595	S391G	probably damaging	Het
Pfn4	T	A	12: 4,775,487	M108K	probably damaging	Het
Pibf1	C	T	14: 99,179,367	Q459*	probably null	Het
Pkd1l1	C	T	11: 8,947,241	C556Y	probably damaging	Het
Plin1	A	G	7: 79,729,851	F84L	possibly damaging	Het
Rasa3	A	G	8: 13,577,801		probably null	Het
Sdc1	G	A	12: 8,790,663	V143I	probably benign	Het
Skor2	C	A	18: 76,859,678	A365E	unknown	Het
Slc16a7	A	G	10: 125,328,333		probably null	Het
Slc25a31	T	A	3: 40,709,143	V51E	probably damaging	Het
Slc6a6	C	A	6: 91,726,106	F153L	probably damaging	Het
Snx7	T	A	3: 117,837,245	K238M	probably damaging	Het
Soga3	T	C	10: 29,196,898	S729P	probably damaging	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
Sphkap	T	G	1: 83,263,582	Q1587P	probably damaging	Het
Tcte1	T	C	17: 45,539,692	I298T	possibly damaging	Het
Tmem247	A	G	17: 86,922,367	Y120C		Het
Togaram2	C	G	17: 71,716,494	L802V	probably benign	Het
Trim32	T	C	4: 65,613,962	V252A	probably benign	Het
Ttc37	T	C	13: 76,130,327		probably null	Het
Vat1	T	C	11: 101,460,203	K404R	probably benign	Het
Xirp2	C	A	2: 67,512,035	T1540K	probably benign	Het
Zc2hc1c	C	T	12: 85,296,612	H508Y	probably damaging	Het
Zfp407	A	T	18: 84,561,185	M601K	probably damaging	Het
Zfp951	A	T	5: 104,815,303	Y132*	probably null	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
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
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'- GTGGCAGTTATTTATACATAAGACCTT -3'
(R):5'- CCAGGTGAAACCAAAACAGATG -3'

Sequencing Primer
(F):5'- GACTTCCATCAGTGACTAATTGTGGC -3'
(R):5'- GCTGCTTGGTATAGGAAAA -3'

Posted On

2020-06-30