Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Pard3b'

472359

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

044140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5950 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62216531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 572 (Y572N)

Ref Sequence

ENSEMBL: ENSMUSP00000040439 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000046673
AA Change: Y572N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: Y572N

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: Y634N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: Y634N

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: Y634N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: Y634N

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	A	17: 28,905,755	Q256L	possibly damaging	Het
Abca15	G	A	7: 120,382,656	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793	Y113N	probably benign	Het
Arid4b	T	A	13: 14,191,264		probably benign	Het
Atf6	C	T	1: 170,834,879	G271R	probably damaging	Het
Cct8l1	C	A	5: 25,517,743	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,855,402	E102G	probably damaging	Het
Celsr1	A	T	15: 86,032,500	V424E	probably damaging	Het
Ces1h	T	C	8: 93,362,959	T271A	probably benign	Het
Cfap44	T	C	16: 44,479,847	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,787,769	L427F	probably damaging	Het
Crybg3	T	C	16: 59,493,571		probably benign	Het
Dis3l2	A	G	1: 87,021,108	D589G	probably damaging	Het
Dlg1	A	G	16: 31,665,583	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,306,941		probably benign	Het
Dpy19l2	T	A	9: 24,581,134	T723S	probably benign	Het
Dsg3	A	T	18: 20,538,529	N764Y	probably damaging	Het
Dst	G	T	1: 34,262,060	R3654L	probably damaging	Het
Evl	C	T	12: 108,675,553	T198I	probably benign	Het
Hectd2	A	G	19: 36,597,239		probably benign	Het
Hsp90b1	A	G	10: 86,701,745	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,372,872	V34A	probably benign	Het
Ikzf2	A	T	1: 69,683,244	N41K	probably damaging	Het
Kif6	G	T	17: 49,715,088	A339S	probably damaging	Het
Klhl1	T	A	14: 96,240,354	D426V	probably damaging	Het
Knop1	A	C	7: 118,853,334	V54G	probably damaging	Het
Lama4	T	A	10: 39,030,448	V270D	probably benign	Het
Lnx2	A	G	5: 147,024,350		probably null	Het
Lrp5	A	T	19: 3,602,333	V1179E	probably benign	Het
Lrpprc	T	G	17: 84,740,170	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,715,310		probably benign	Het
Ltbp1	A	T	17: 75,273,870	D660V	probably damaging	Het
Macf1	C	G	4: 123,439,436		probably null	Het
Map3k21	C	A	8: 125,941,760	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,488,419	D895E	possibly damaging	Het
Mfsd7a	A	T	5: 108,445,485	H162Q	probably damaging	Het
Mink1	T	A	11: 70,609,586	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,419,719	E108G	probably damaging	Het
Nars	A	G	18: 64,510,485	V141A	possibly damaging	Het
Olfr954	T	C	9: 39,462,337	V299A	probably benign	Het
Pcnx3	A	C	19: 5,667,158	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,218,520	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,152,090	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,532,965	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,839,126	T109A	probably damaging	Het
Rai1	T	A	11: 60,187,593	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,738,265	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,811,124	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,091,287	T134S	probably benign	Het
Skint1	A	G	4: 112,019,335	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,377,176	W54L	probably benign	Het
Soga3	T	C	10: 29,143,648		probably benign	Het
Synpo2l	T	A	14: 20,665,935	Q191L	probably benign	Het
Tank	A	G	2: 61,653,569		probably benign	Het
Tctex1d1	T	G	4: 103,004,250	L147R	probably damaging	Het
Terb1	A	T	8: 104,488,485		probably null	Het
Trdc	T	C	14: 54,144,311		probably benign	Het
Tsen34	A	G	7: 3,694,788	I63V	probably null	Het
Ust	T	C	10: 8,248,101	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,565,231	Q23R	probably benign	Het
Wdr93	A	T	7: 79,773,431	H481L	probably damaging	Het
Xirp2	A	G	2: 67,511,320	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,997,790	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244	D144E	possibly damaging	Het
Zfp472	T	A	17: 32,977,507	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,202,558	P66H	probably benign	Het
Zfp712	A	T	13: 67,044,817	L57Q	probably damaging	Het
Zik1	G	A	7: 10,490,571	Q200*	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
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'- AAGGACCAGTCTTGCACTCAG -3'
(R):5'- CAGTGCTCATGACTCTGAGTG -3'

Sequencing Primer
(F):5'- AGTCTTGCACTCAGCTTTGG -3'
(R):5'- GCTCATGACTCTGAGTGACAAAGTC -3'

Posted On

2017-03-31