Mutagenetix > Incidental Mutation

Incidental Mutation 'R4729:Pard3b'

358647

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

041603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62211684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 591 (R591G)

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: R529G

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: R529G

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: R591G

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: R591G

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: R591G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: R591G

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,849,323	L220H	unknown	Het
Amt	T	A	9: 108,300,652	L272Q	probably damaging	Het
Ank2	G	C	3: 126,976,896	Y894*	probably null	Het
Ankzf1	T	A	1: 75,194,264	F105I	probably damaging	Het
Aox4	C	A	1: 58,259,077	Y1067*	probably null	Het
BC034090	T	A	1: 155,225,090	Q476L	probably damaging	Het
Bhmt	G	T	13: 93,627,363	R57S	probably damaging	Het
Cacna1c	A	T	6: 118,656,175	F964L	probably damaging	Het
Celsr3	A	C	9: 108,847,652	S396R	probably benign	Het
Cpne4	C	A	9: 104,922,556	Q191K	probably damaging	Het
Csnk1g2	T	C	10: 80,639,204	Y352H	probably benign	Het
D630003M21Rik	A	G	2: 158,216,703	S426P	probably damaging	Het
Dido1	G	T	2: 180,687,650	N326K	probably benign	Het
E2f2	T	A	4: 136,184,449	I257N	probably damaging	Het
Elfn1	T	G	5: 139,973,658	F806V	probably damaging	Het
Eml6	T	A	11: 29,833,204	Y559F	probably damaging	Het
Erich6	A	G	3: 58,636,059		probably null	Het
Fam45a	T	A	19: 60,834,871	F315I	probably benign	Het
Fam78a	T	C	2: 32,082,605	N101S	probably damaging	Het
Fam83h	A	G	15: 76,002,336	S1051P	probably benign	Het
Galns	C	T	8: 122,603,456	G112D	probably damaging	Het
Gm7075	A	T	10: 63,421,465	V92E	probably damaging	Het
Gm9923	A	G	10: 72,309,694	K125R	probably damaging	Het
Hectd3	G	A	4: 116,997,218	V326M	probably damaging	Het
Iars2	A	G	1: 185,316,051	S495P	possibly damaging	Het
Ice1	T	C	13: 70,606,384	R528G	probably damaging	Het
Igkv12-38	T	A	6: 69,943,384	Y50F	possibly damaging	Het
Inpp5j	T	C	11: 3,495,025	S883G	probably damaging	Het
Irf8	T	C	8: 120,753,439	S139P	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Kcnq4	G	T	4: 120,713,074	D357E	possibly damaging	Het
Klhl1	A	G	14: 96,280,148	L364P	probably damaging	Het
Krt7	A	G	15: 101,420,558	I309V	probably benign	Het
Krt76	G	T	15: 101,889,081	A281D	probably damaging	Het
Lancl2	T	C	6: 57,737,712	F430L	probably damaging	Het
Llgl2	T	C	11: 115,848,299	V332A	probably damaging	Het
Lrrc26	A	T	2: 25,290,064	T26S	probably benign	Het
Lrrk1	T	A	7: 66,262,293	M1840L	probably benign	Het
Lyst	G	A	13: 13,637,901	C966Y	probably damaging	Het
Mad1l1	T	A	5: 140,261,511	S354C	possibly damaging	Het
Mbtps1	C	T	8: 119,525,420	G577D	probably damaging	Het
Mycbp2	C	T	14: 103,188,591	R2366H	probably damaging	Het
Myo18a	T	G	11: 77,777,685		probably null	Het
Naip5	G	A	13: 100,222,131	R866C	possibly damaging	Het
Nav2	T	A	7: 49,452,819	V455E	probably benign	Het
Neb	A	G	2: 52,263,662	I2417T	possibly damaging	Het
Nme5	C	T	18: 34,569,837	A133T	probably benign	Het
Nradd	T	C	9: 110,621,911	D51G	possibly damaging	Het
Pcbp4	T	C	9: 106,460,730	F73S	probably damaging	Het
Pcdhb11	C	T	18: 37,422,366	Q250*	probably null	Het
Pde1c	T	A	6: 56,072,209	K766N	probably damaging	Het
Phf21b	G	A	15: 84,854,741	Q40*	probably null	Het
Prr14	A	G	7: 127,474,696	D244G	probably benign	Het
Rab11fip5	C	T	6: 85,374,267	A88T	probably damaging	Het
Rad54l2	A	T	9: 106,716,118	S428T	probably benign	Het
Rdh9	A	G	10: 127,776,752	I90V	probably benign	Het
Rhag	G	T	17: 40,828,401	G76C	probably damaging	Het
Riok3	T	A	18: 12,128,927	V6E	possibly damaging	Het
Scn10a	A	G	9: 119,671,526	I229T	probably damaging	Het
Slco1a1	G	T	6: 141,908,969	T652K	probably benign	Het
Slit1	T	A	19: 41,647,020	I345F	probably damaging	Het
Snrnp200	A	T	2: 127,232,937	I1477F	probably damaging	Het
Snx31	G	A	15: 36,523,552	T328I	possibly damaging	Het
Strn	A	G	17: 78,657,961	F634S	probably damaging	Het
Tmem101	C	T	11: 102,156,329	G6R	probably benign	Het
Tmem199	C	G	11: 78,508,680	G131R	probably benign	Het
Trim66	A	G	7: 109,456,060		probably null	Het
Ttn	G	T	2: 76,851,585		probably benign	Het
Upk3bl	T	C	5: 136,057,393	L61P	probably benign	Het
Vmn2r108	A	G	17: 20,472,370	Y75H	probably damaging	Het
Vmn2r91	T	A	17: 18,107,644	I500K	probably damaging	Het
Vps18	C	T	2: 119,293,791	R400C	probably damaging	Het
Zeb1	C	T	18: 5,767,286	P599L	probably damaging	Het
Zfhx4	G	T	3: 5,399,497	A1572S	probably damaging	Het
Zfp677	T	A	17: 21,397,418	C246S	possibly damaging	Het
Zfp719	T	A	7: 43,590,410	I474N	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
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'- AAATGTTCCTCTAAACAGCTTCCC -3'
(R):5'- TGAGCATAGGCCCTGGTAAAC -3'

Sequencing Primer
(F):5'- GGCCTCACACTGTGTCCAC -3'
(R):5'- CCCTGGTAAACATAGACCTGTGATG -3'

Posted On

2015-11-11