Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02156:Pard3b'

282236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02156

Quality Score

Status

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61767950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 41 (D41E)

Ref Sequence

ENSEMBL: ENSMUSP00000040439 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046673
AA Change: D41E

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: D41E

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: D41E

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: D41E

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: D41E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: D41E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138768

SMART Domains

Protein: ENSMUSP00000116912
Gene: ENSMUSG00000052062

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	7e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188325

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,871,307		noncoding transcript	Het
Adam33	G	A	2: 131,053,158		probably benign	Het
Akr7a5	C	A	4: 139,314,269	A163D	probably damaging	Het
Arap1	T	C	7: 101,388,730		probably benign	Het
Arhgap8	A	G	15: 84,770,035	I306V	possibly damaging	Het
Asf1a	C	T	10: 53,606,143	A17V	probably benign	Het
Atp1a4	A	T	1: 172,257,962	S25T	probably benign	Het
BC030867	C	T	11: 102,255,039	S47F	probably damaging	Het
Cbln4	T	C	2: 172,042,208	I31V	probably benign	Het
Ccdc93	T	G	1: 121,448,276	L172R	possibly damaging	Het
Ceacam9	T	C	7: 16,723,619		probably benign	Het
Crhr1	C	A	11: 104,163,883	N107K	probably benign	Het
Cyp11b1	T	A	15: 74,835,797	M488L	probably benign	Het
Dnah7a	A	G	1: 53,419,723	V3752A	probably benign	Het
Dnhd1	G	A	7: 105,721,744	V4744M	probably damaging	Het
Dstyk	C	A	1: 132,449,926	N423K	probably benign	Het
Exph5	T	C	9: 53,375,641	S1341P	probably damaging	Het
Fam161b	T	C	12: 84,354,753	H409R	probably benign	Het
Fbxo21	A	G	5: 117,994,668		probably benign	Het
Flt1	A	G	5: 147,681,741	I230T	probably damaging	Het
Gm9931	T	C	1: 147,281,628		noncoding transcript	Het
Grk6	T	C	13: 55,449,361	F36L	possibly damaging	Het
Grm1	G	T	10: 10,719,976	A636D	probably damaging	Het
Hectd1	A	T	12: 51,754,133		probably benign	Het
Hltf	G	A	3: 20,092,807	V577I	possibly damaging	Het
Lrrc8c	A	G	5: 105,607,493	D378G	probably damaging	Het
Mcoln1	C	A	8: 3,512,657	S6*	probably null	Het
Meis1	A	T	11: 19,011,292	S194T	probably benign	Het
Myo1h	A	C	5: 114,353,911		probably benign	Het
Nop9	T	A	14: 55,753,283	C557*	probably null	Het
Nrap	T	C	19: 56,321,000	D1619G	probably damaging	Het
Olfr1314	A	T	2: 112,092,016	H228Q	probably benign	Het
Olfr854	A	G	9: 19,567,198	M59T	probably damaging	Het
Olfr934	T	A	9: 38,982,546	Y166F	possibly damaging	Het
Parp14	G	T	16: 35,858,597	Q334K	probably benign	Het
Phf3	A	T	1: 30,808,778	I1228K	probably damaging	Het
Polr1b	T	A	2: 129,123,879	F814I	probably benign	Het
Rsph1	T	G	17: 31,258,116	S282R	probably benign	Het
Son	T	C	16: 91,656,104	S580P	possibly damaging	Het
Sptbn5	G	T	2: 120,047,617		probably benign	Het
Ssr2	T	A	3: 88,583,788		probably null	Het
Tfpt	A	G	7: 3,629,040	S24P	probably damaging	Het
Tg	A	G	15: 66,705,348	T1507A	probably benign	Het
Trpm7	A	G	2: 126,799,243		probably benign	Het
Wwox	G	A	8: 114,448,159		probably null	Het
Ythdf2	C	T	4: 132,204,508	R447H	possibly damaging	Het
Zfp385c	A	G	11: 100,629,019	F368S	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zhx1	A	C	15: 58,054,049	V267G	possibly damaging	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
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
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

Posted On

2015-04-16