Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Pard3b'

64647

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

038334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0040 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62637820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1170 (Y1170F)

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: Y1108F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: Y1108F

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: Y1170F

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: Y1170F

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

possibly damaging
Transcript: ENSMUST00000094906
AA Change: Y1071F

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: Y1071F

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

0.0841

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,283,024		probably benign	Het
Antxr2	G	A	5: 97,938,425	T441I	possibly damaging	Het
Apcs	A	G	1: 172,894,456	Y108H	probably benign	Het
Atad5	A	G	11: 80,098,014	T666A	probably benign	Het
Atcay	C	T	10: 81,210,519		probably null	Het
Bahcc1	A	G	11: 120,268,370	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,778,264	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,977,039	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 87,066,742		probably null	Het
Cyp2b9	G	T	7: 26,173,474	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,880,657	Y164H	probably damaging	Het
Eml2	T	C	7: 19,196,614	V373A	possibly damaging	Het
Fat1	A	G	8: 45,026,404	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,486,373	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,326,240		probably benign	Het
Fbxo44	A	G	4: 148,158,695	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,556,117		probably null	Het
Gm884	G	A	11: 103,542,990	P942S	probably damaging	Het
Gm9955	G	T	18: 24,709,152		probably benign	Het
Gprc6a	T	A	10: 51,614,984	K819*	probably null	Het
Gxylt1	A	T	15: 93,254,555		probably benign	Het
Hspa12a	T	C	19: 58,799,624	T589A	probably benign	Het
Idh2	A	G	7: 80,097,822	S317P	probably damaging	Het
Ifi30	T	C	8: 70,763,776		probably null	Het
Ifna16	G	A	4: 88,676,630	A76V	probably benign	Het
Itpr2	C	T	6: 146,345,140	E1127K	probably damaging	Het
Kank4	A	G	4: 98,779,220	V330A	probably benign	Het
Kpna1	T	A	16: 36,023,241	D328E	probably damaging	Het
Krt71	T	A	15: 101,738,433	H280L	possibly damaging	Het
Mapt	A	G	11: 104,305,398	M446V	probably damaging	Het
Med1	C	T	11: 98,166,255		probably null	Het
Mif	T	A	10: 75,859,780	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,224,272	V1447A	probably benign	Het
Myo1b	A	T	1: 51,781,989	I451N	probably damaging	Het
Nme2	A	T	11: 93,951,930		probably null	Het
Nubp1	A	G	16: 10,421,117	T199A	probably damaging	Het
Nup210l	T	A	3: 90,181,905	V1165D	probably damaging	Het
Nup98	T	A	7: 102,192,034	T122S	probably damaging	Het
Olfr1106	C	T	2: 87,049,204	E11K	probably damaging	Het
Olfr304	A	T	7: 86,386,507	L51Q	probably benign	Het
Olfr354	T	C	2: 36,907,458	F171L	probably damaging	Het
Olfr771	T	A	10: 129,160,739	I82L	probably benign	Het
Pear1	T	C	3: 87,754,358	D536G	probably damaging	Het
Phrf1	G	T	7: 141,243,857	R196L	probably damaging	Het
Plxna2	G	T	1: 194,643,896	R46L	probably benign	Het
Rbm39	G	A	2: 156,148,179	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,572,101	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,444,696	S40N	probably damaging	Het
Runx2	G	A	17: 44,608,254	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,329,252	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,048,877		probably benign	Het
Slc4a8	T	A	15: 100,789,846	I288N	probably damaging	Het
Ttc38	C	A	15: 85,841,489	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,265,894	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,596,084	V59D	probably benign	Het
Wdpcp	A	G	11: 21,711,638	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,867,914	A483T	probably benign	Het
Zfp106	C	A	2: 120,531,613	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,381,572	Y184H	probably benign	Het
Zfp68	G	A	5: 138,607,779	T94I	probably benign	Het
Zkscan3	A	T	13: 21,394,920		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
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

Predicted Primers

PCR Primer
(F):5'- GCGCTACAATGACAGAGAGCTTCC -3'
(R):5'- TTAGCAGTTAGGCCACGCATCCTC -3'

Sequencing Primer
(F):5'- GAGAGCTTCCATACTACCCAGG -3'
(R):5'- TCTGTACCACGGAACACCTTAG -3'

Posted On

2013-08-06