Mutagenetix > Incidental Mutation

Incidental Mutation 'R4981:Pard3b'

384791

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

042576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62344060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 771 (M771R)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046673
AA Change: M709R

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

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: M709R

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: M771R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: M771R

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: M771R

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: M771R

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

0.1980

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,048,987		probably null	Het
Aatf	T	C	11: 84,511,497	D121G	probably benign	Het
Amer2	T	A	14: 60,379,727	L331H	probably damaging	Het
Ang4	T	G	14: 51,764,372	K40Q	probably benign	Het
Aspm	A	C	1: 139,470,760		probably null	Het
Cacna1c	A	T	6: 118,751,471	D337E	probably benign	Het
Ccdc124	T	C	8: 70,868,785	E134G	probably benign	Het
Ccdc7a	G	T	8: 128,984,983	A312E	probably benign	Het
Ccdc84	A	T	9: 44,417,948	F14Y	probably damaging	Het
Cd209g	A	G	8: 4,136,845	D130G	probably damaging	Het
Cd320	T	C	17: 33,847,575	S96P	probably benign	Het
Clu	C	G	14: 65,973,366	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,160,777	H28L	probably benign	Het
Cntnap1	T	C	11: 101,176,333		probably null	Het
Col22a1	C	T	15: 71,861,066	C546Y	unknown	Het
Col6a3	C	T	1: 90,778,843	V2183I	unknown	Het
Cop1	A	G	1: 159,325,068		probably benign	Het
Cpne8	T	C	15: 90,679,235	I24V	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Dennd5b	G	A	6: 149,009,772	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,523,913	M627I	probably benign	Het
Dnah3	A	T	7: 119,956,201	N2721K	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg1b	A	G	18: 20,408,868	T811A	possibly damaging	Het
Emilin1	C	G	5: 30,919,351	Q847E	probably benign	Het
Epha3	A	T	16: 63,652,412	V370D	probably benign	Het
Epha5	T	A	5: 84,150,483	T406S	probably damaging	Het
Ephb1	A	T	9: 102,040,960	I450N	probably benign	Het
Ephb2	A	G	4: 136,696,010	M319T	probably benign	Het
Eps15l1	A	G	8: 72,378,989		probably null	Het
Fbxo9	G	A	9: 78,085,886		probably benign	Het
Fgd5	T	C	6: 91,989,300	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,765,830	F582L	probably damaging	Het
Frs3	T	C	17: 47,689,262		probably null	Het
Fscb	C	T	12: 64,473,619	V358I	possibly damaging	Het
Fus	G	T	7: 127,967,555		probably benign	Het
Fyb	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,646,611		probably benign	Het
Glra3	A	T	8: 55,991,235	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,570,436		noncoding transcript	Het
Gng3	G	A	19: 8,838,261	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,976,357		probably benign	Het
Herpud1	A	G	8: 94,391,794	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,755,044	S115R	possibly damaging	Het
Ikbip	T	A	10: 91,095,986	I164N	probably benign	Het
Kank1	A	G	19: 25,411,395	T783A	probably benign	Het
Kcnq3	A	T	15: 66,031,405	V152E	possibly damaging	Het
Kif23	C	T	9: 61,931,871	R314H	probably damaging	Het
Klc4	T	C	17: 46,644,361	H49R	probably benign	Het
Klhl20	A	T	1: 161,103,005	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,841,276	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,399,454	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,176,447	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,741,791	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,484,905	T109S	probably benign	Het
Megf6	T	C	4: 154,267,450	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,211	V240D	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,224,474		probably benign	Het
Nav3	T	C	10: 109,880,692	I172V	probably benign	Het
Nemp1	T	A	10: 127,693,530	L178Q	probably damaging	Het
Numa1	T	C	7: 101,992,674	S110P	probably damaging	Het
Olfr1076	T	C	2: 86,508,827	Y123H	probably damaging	Het
Olfr1222	T	C	2: 89,125,501	T77A	probably benign	Het
Olfr1248	A	G	2: 89,617,425	Y256H	probably damaging	Het
Olfr1500	A	T	19: 13,828,094	F101I	probably damaging	Het
Olfr639	A	G	7: 104,012,105	I199T	probably damaging	Het
Olfr995	A	G	2: 85,438,469	S230P	probably damaging	Het
Phkg2	A	G	7: 127,582,379	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,204,104	M628K	possibly damaging	Het
Poln	A	G	5: 34,107,085		probably null	Het
Ppip5k1	A	T	2: 121,312,390	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,870,462	H363L	probably damaging	Het
Prkdc	A	G	16: 15,678,309	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,692,547	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,849,421	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,199,999	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,751,658	V2366A	probably benign	Het
Stab2	T	A	10: 86,960,223	M387L	probably benign	Het
Syne2	T	G	12: 75,941,219	M1718R	probably damaging	Het
Synm	G	T	7: 67,734,487	F700L	probably benign	Het
Tmco4	T	C	4: 138,990,701	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,205,136	P168T	probably damaging	Het
Tril	G	T	6: 53,818,920	T439K	probably benign	Het
Trim2	A	G	3: 84,177,735	L559P	probably damaging	Het
Trim3	A	G	7: 105,619,128	V149A	probably damaging	Het
Triml2	A	G	8: 43,187,680	N191S	probably benign	Het
Usp4	A	G	9: 108,381,418	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,837,461	T670I	probably damaging	Het
Vmn2r97	G	T	17: 18,940,174	G524*	probably null	Het
Xpo5	C	A	17: 46,220,817	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,191	L84S	probably damaging	Het
Zranb2	T	G	3: 157,546,741		probably benign	Het
Zswim4	C	T	8: 84,226,667		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
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'- CCACTATAGCTCACTACTCTATCATAG -3'
(R):5'- ATCTAATGTTCCTTAAGCCAAAGGG -3'

Sequencing Primer
(F):5'- TTCCTTGGAGAGCCTACA -3'
(R):5'- CCAAAGGGCAAAACATATCAGG -3'

Posted On

2016-05-10