Mutagenetix > Incidental Mutation

Incidental Mutation 'R3688:Pard3b'

269600

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62479569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 938 (T938A)

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 benign
Transcript: ENSMUST00000046673
AA Change: T876A

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

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: T876A

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: T938A

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: T938A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147177

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,267,849	I687T	possibly damaging	Het
7420426K07Rik	A	T	9: 98,903,464	M61L	probably benign	Het
A1cf	T	A	19: 31,911,169	F100I	probably damaging	Het
Adam12	A	T	7: 133,964,796	Y308*	probably null	Het
Adam3	T	C	8: 24,703,848	T383A	probably benign	Het
Adcy8	T	C	15: 64,871,707	T351A	probably damaging	Het
Atp11c	T	C	X: 60,281,644	Y431C	probably benign	Het
Atp7b	T	C	8: 22,004,230	H956R	probably damaging	Het
Bptf	C	A	11: 107,074,198	R1275L	probably benign	Het
Cept1	G	T	3: 106,520,015	N236K	probably benign	Het
Col15a1	C	T	4: 47,258,689	T360I	probably benign	Het
Efcab6	G	A	15: 83,871,278	Q1323*	probably null	Het
Efl1	T	A	7: 82,762,970	S856T	probably benign	Het
Eftud2	T	C	11: 102,844,201	E624G	probably damaging	Het
Fat2	T	C	11: 55,281,101	T2929A	probably damaging	Het
Gm4884	A	G	7: 41,043,486	H293R	possibly damaging	Het
Hdac10	C	T	15: 89,123,564		probably null	Het
Il17rd	C	A	14: 27,039,148	N15K	probably null	Het
Kcnt1	C	T	2: 25,894,359	T258I	probably damaging	Het
Kif5a	T	G	10: 127,242,774	N334T	probably damaging	Het
Ksr2	A	G	5: 117,554,979	Q164R	probably damaging	Het
Map4k4	T	A	1: 39,985,171		probably null	Het
Nat6	T	C	9: 107,583,350	V148A	possibly damaging	Het
Olfr459	G	T	6: 41,772,226	Y24*	probably null	Het
Pcdhga6	T	A	18: 37,708,541	I438N	probably damaging	Het
Pfkm	T	A	15: 98,131,517	N697K	probably benign	Het
Pus10	T	C	11: 23,667,334	F16L	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rangap1	A	T	15: 81,718,762	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,327,284	F177S	probably benign	Het
Slc34a2	G	A	5: 53,064,832	G289S	probably benign	Het
Strn4	A	G	7: 16,822,581	Y123C	probably damaging	Het
Swt1	A	T	1: 151,391,489	M647K	probably damaging	Het
Trpm5	A	G	7: 143,078,456	V872A	probably damaging	Het
Ubqln4	T	C	3: 88,563,159	S313P	probably damaging	Het
Vmn1r17	T	A	6: 57,360,559	T225S	probably damaging	Het
Vmn2r75	T	A	7: 86,148,421	H728L	probably damaging	Het
Vps33a	T	C	5: 123,535,211		probably null	Het
Vwde	T	A	6: 13,186,892	R865S	probably damaging	Het
Zfp408	T	A	2: 91,646,432	M126L	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
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'- CATGGTATGATCCTGAGGAAACAG -3'
(R):5'- GTTGACCTTGGCATAGAGACCC -3'

Sequencing Primer
(F):5'- GGAGTGACAGCTAAGTGGCTAGC -3'
(R):5'- CTTGGCATAGAGACCCTCTAAGTG -3'

Posted On

2015-02-19