Mutagenetix > Incidental Mutation

Incidental Mutation 'R8889:Pard3b'

677529

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62637867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1186 (Y1186N)

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

possibly damaging
Transcript: ENSMUST00000046673
AA Change: Y1124N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: Y1124N

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: Y1186N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: Y1186N

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: Y1087N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: Y1087N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	T	A	9: 35,839,386	T47S	probably damaging	Het
Abca14	T	A	7: 120,216,383	L285I	probably damaging	Het
Abcc2	T	G	19: 43,807,132	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,726,669	I938F	probably damaging	Het
Ank1	T	C	8: 23,116,974	L1297P	probably damaging	Het
Ap3b1	G	A	13: 94,542,840	V997M	unknown	Het
Ash2l	T	C	8: 25,823,219	K413R	probably benign	Het
Cacnb1	A	T	11: 98,010,366	V220E	probably damaging	Het
Cacul1	A	T	19: 60,580,522	L66Q	probably damaging	Het
Camkv	C	T	9: 107,946,134	R120*	probably null	Het
Ccny	T	G	18: 9,345,235	S180R	probably damaging	Het
Cdh23	G	T	10: 60,307,505	H3012Q	probably damaging	Het
Clasp2	T	A	9: 113,880,183	L680Q	probably damaging	Het
Clip1	A	T	5: 123,579,502	S1241R	probably benign	Het
Cthrc1	T	A	15: 39,077,050	L16H	probably damaging	Het
Ctnna1	G	A	18: 35,239,533	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,682,664	I852S	probably benign	Het
Echs1	A	C	7: 140,108,118	L258R	probably damaging	Het
Epha8	G	T	4: 136,934,539	H582N	probably benign	Het
Exph5	G	T	9: 53,376,655	G1679W	probably damaging	Het
Fhod3	G	A	18: 25,056,395		probably null	Het
Gm10803	G	A	2: 93,563,936	D18N	unknown	Het
Gpr152	T	A	19: 4,142,724	I88N	probably damaging	Het
Gpr179	T	C	11: 97,335,764	D1855G	possibly damaging	Het
H2al2a	T	A	2: 17,996,788	D29V	probably damaging	Het
Hnrnpf	T	G	6: 117,924,792	S346A	probably benign	Het
Hsd11b2	C	T	8: 105,522,631	R213C	probably damaging	Het
Il17rd	A	G	14: 27,099,973	D552G	possibly damaging	Het
Ipo9	T	C	1: 135,386,806	N904S	possibly damaging	Het
Klhl14	T	G	18: 21,558,163	T437P	possibly damaging	Het
Krt5	T	C	15: 101,710,750	M268V	probably benign	Het
Lhx4	T	C	1: 155,705,267	T171A	possibly damaging	Het
Ltn1	A	T	16: 87,432,342		probably benign	Het
Macf1	A	G	4: 123,355,243	L7165P	probably damaging	Het
Micall2	T	A	5: 139,717,499	H194L	probably damaging	Het
Mmp16	T	A	4: 18,051,820	Y270N	probably damaging	Het
Nme6	T	G	9: 109,839,638	F41V	probably damaging	Het
Npffr1	A	G	10: 61,614,160	N71S	possibly damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr409-ps1	T	C	11: 74,317,123	W33R	probably damaging	Het
Pcca	A	G	14: 122,557,711		probably benign	Het
Plekha8	A	G	6: 54,615,555		probably benign	Het
Ptpn14	T	A	1: 189,822,675	L144*	probably null	Het
Rad52	C	T	6: 119,913,080	R56C	probably damaging	Het
Rdx	C	T	9: 52,086,453	R576C	probably damaging	Het
Rnf135	C	T	11: 80,184,131	T72I	probably benign	Het
Robo4	G	T	9: 37,403,305	R196L	probably benign	Het
Rsf1	G	GACGTCGGCT	7: 97,579,909		probably benign	Het
Rsf1	A	T	7: 97,678,964	I1058F		Het
Ryr2	A	T	13: 11,785,104	V919E	probably damaging	Het
Slc39a6	A	T	18: 24,596,329	Y442*	probably null	Het
Slc4a11	T	G	2: 130,687,220	S437R	probably damaging	Het
Slc7a6	T	A	8: 106,195,902	V440E	probably damaging	Het
Sox2	A	T	3: 34,650,980	N189Y	possibly damaging	Het
Spata13	A	T	14: 60,756,581	M1161L	probably benign	Het
Spock3	T	A	8: 62,951,952	Y51*	probably null	Het
Sptbn1	A	G	11: 30,117,800	Y1805H	probably benign	Het
Tcerg1l	C	T	7: 138,397,531	W41*	probably null	Het
Tdrd9	A	G	12: 112,013,284	Y401C	probably benign	Het
Tex47	A	T	5: 7,305,115	I99F	probably damaging	Het
Tlr9	G	A	9: 106,222,635		probably benign	Het
Tmem209	T	A	6: 30,497,943	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,539,759	S97A	possibly damaging	Het
Tnfaip8	ACACACTC	AC	18: 50,046,841		probably benign	Het
Ttc7	T	A	17: 87,330,092	M425K	probably damaging	Het
Ttn	C	T	2: 76,909,122	G3737D	unknown	Het
Unc13b	A	T	4: 43,176,484	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,937,118	R58C	probably damaging	Het
Vmn1r128	A	G	7: 21,349,815	Y148C	possibly damaging	Het
Vmn1r193	T	C	13: 22,219,669	Y51C	probably benign	Het
Vmn2r112	A	G	17: 22,618,631	Y691C	probably damaging	Het
Vmn2r25	T	A	6: 123,823,610	D591V	probably damaging	Het
Vmn2r94	A	G	17: 18,244,073	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967	C313S	probably damaging	Het
Vwa5b1	A	G	4: 138,610,730	V93A	probably benign	Het
Xrcc5	T	G	1: 72,343,031	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,302,555		probably benign	Het
Zfp964	G	A	8: 69,663,755	G335D	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
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
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'- ATACTACCCAGGGCCTCATC -3'
(R):5'- AAGCAAGAGCCACTCTGTAC -3'

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

Posted On

2021-08-02