Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Pard3b'

375857

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

042502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61768000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 58 (I58T)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046673
AA Change: I58T

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: I58T

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: I58T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: I58T

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: I58T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: I58T

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

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,989,687	Y944C	probably damaging	Het
Acacb	T	C	5: 114,232,938	V1747A	probably benign	Het
Acad8	C	T	9: 26,978,402	R332H	probably damaging	Het
Acrbp	A	C	6: 125,050,538	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,755,512	N1500K	probably benign	Het
Arfgef1	A	G	1: 10,159,573	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,951,345	S478G	probably benign	Het
Armh1	T	C	4: 117,237,780	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,408,961	L1045*	probably null	Het
Atp2a3	T	A	11: 72,982,680	L793H	probably damaging	Het
B4galnt4	C	A	7: 141,068,260	P563Q	probably benign	Het
BC027072	A	G	17: 71,751,071	M537T	probably damaging	Het
Bcl2a1b	A	T	9: 89,199,660	K94*	probably null	Het
Bod1	T	A	11: 31,666,853	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,405,959	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588	V1250A	possibly damaging	Het
Car12	T	A	9: 66,764,318	Y332*	probably null	Het
Ccdc186	A	T	19: 56,802,000		probably null	Het
Cdh6	T	C	15: 13,034,688	T629A	probably damaging	Het
Cep112	T	A	11: 108,506,645	D353E	probably damaging	Het
Cep152	T	C	2: 125,586,381	S777G	probably benign	Het
Clec4b2	A	C	6: 123,204,204	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926	Y323H	probably benign	Het
Cnp	G	T	11: 100,576,376	E48D	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,391,023	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,614,941	E703D	probably damaging	Het
Dlg1	T	C	16: 31,857,946	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,413,819	S86G	probably benign	Het
Dock3	A	G	9: 106,930,067	F1354L	probably damaging	Het
Dock3	C	A	9: 106,992,972	V638F	possibly damaging	Het
E130309D02Rik	A	G	5: 143,301,837	S438P	probably benign	Het
Eif3c	A	T	7: 126,557,454	M407K	probably benign	Het
Epha4	T	A	1: 77,390,075	K578*	probably null	Het
Erc2	C	T	14: 27,653,328	L168F	probably damaging	Het
Esyt2	A	G	12: 116,342,088	I313V	probably benign	Het
Far1	T	A	7: 113,568,225	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,717,969	N463Y	possibly damaging	Het
Fgg	A	G	3: 83,008,540	D96G	probably benign	Het
Gfer	A	G	17: 24,695,300	S130P	probably damaging	Het
Gm8994	A	T	6: 136,328,739	Q66L	possibly damaging	Het
Hdac10	A	T	15: 89,128,447	M1K	probably null	Het
Hsd3b1	A	T	3: 98,853,326	S110R	probably benign	Het
Itga6	T	C	2: 71,838,373	L552P	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,257,202	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,480,214	Y142F	probably benign	Het
Lyz2	T	A	10: 117,278,709	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,570,023	D76G	probably damaging	Het
Map7d1	T	C	4: 126,233,225	K731E	unknown	Het
Mgam	A	C	6: 40,643,054	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953	E104D	probably benign	Het
Morc2a	C	T	11: 3,676,664	R241*	probably null	Het
Mtfmt	C	A	9: 65,452,104	H354N	probably benign	Het
Myh3	T	C	11: 67,099,407	I1626T	probably benign	Het
Ndst1	A	T	18: 60,691,987	V753D	probably benign	Het
Neurl4	A	G	11: 69,903,171	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,256,897	S568G	probably benign	Het
Olfr1263	T	C	2: 90,015,418	F163L	probably damaging	Het
Olfr1513	G	C	14: 52,349,542	P168R	probably damaging	Het
Olfr315	T	C	11: 58,778,306	Y60H	possibly damaging	Het
Olfr325	T	G	11: 58,581,720	L292R	probably damaging	Het
Olfr593	A	G	7: 103,212,540	I216V	probably damaging	Het
Olfr798	A	T	10: 129,625,599	I154N	probably benign	Het
Olfr901	A	T	9: 38,430,815	M178L	probably benign	Het
Osbpl7	A	G	11: 97,060,150	I608V	probably damaging	Het
Pcdhga1	A	C	18: 37,662,354	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,150,624	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,410,416	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,464,042	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,564,125	Y183C	probably damaging	Het
Pole	A	C	5: 110,290,224		probably null	Het
Ppfia1	A	G	7: 144,491,576	L948P	probably damaging	Het
Prdm2	A	T	4: 143,134,191	V843E	probably damaging	Het
Prss56	C	A	1: 87,187,986	F527L	probably damaging	Het
Psmd11	T	C	11: 80,438,320	L88P	probably damaging	Het
Ptx3	G	C	3: 66,224,991	G311A	probably damaging	Het
Rars	A	T	11: 35,808,558	L636H	probably damaging	Het
Rnft2	A	G	5: 118,237,442	S81P	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxra	T	A	2: 27,741,183	I142N	probably damaging	Het
Scin	T	C	12: 40,104,932	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,579,258	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,322,004	I505F	probably benign	Het
Six5	T	C	7: 19,095,171	Y179H	probably damaging	Het
Slc12a4	A	C	8: 105,944,609	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,837,512	L404F	probably damaging	Het
Smn1	T	C	13: 100,132,423	L259P	probably damaging	Het
Sorl1	T	G	9: 42,041,639	D702A	probably damaging	Het
Spta1	A	G	1: 174,237,834	E1983G	possibly damaging	Het
Srsf1	T	A	11: 88,049,962		probably null	Het
Stard9	C	T	2: 120,706,419	R4224*	probably null	Het
Svs1	A	G	6: 48,987,717	T220A	possibly damaging	Het
Sybu	T	G	15: 44,675,499	M383L	probably benign	Het
Tbx15	A	C	3: 99,352,267	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 138,218,057	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616	T474N	possibly damaging	Het
Thada	A	T	17: 84,448,042		probably null	Het
Tnik	A	T	3: 28,650,086	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,695,592	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,268,833	M623T	probably damaging	Het
Trdn	T	A	10: 33,474,417	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,776,192	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,660,240	R644S	probably benign	Het
Ttyh1	A	T	7: 4,133,736	M448L	probably benign	Het
Unc79	G	T	12: 103,161,820	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,626,608	I2110M	probably benign	Het
Uvssa	G	T	5: 33,413,913	E634*	probably null	Het
Vac14	A	C	8: 110,645,808	T384P	probably benign	Het
Wdr11	A	G	7: 129,633,721	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,110,524	T28S	probably benign	Het
Zfp715	A	T	7: 43,299,682	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,770,060	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,602,436	V544M	probably 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
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
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'- GTGGCAGTTATTTATACATAAGACCTT -3'
(R):5'- CCAGGTGAAACCAAAACAGATGG -3'

Sequencing Primer
(F):5'- GACTTCCATCAGTGACTAATTGTGGC -3'
(R):5'- GGCTTGAAAATATGCTGC -3'

Posted On

2016-03-17