Mutagenetix > Incidental Mutation

Incidental Mutation 'R8833:Pard3b'

673955

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 #

R8833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62344999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 841 (E841G)

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

probably benign
Transcript: ENSMUST00000046673
AA Change: E779G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: E779G

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: E841G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: E841G

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: E841G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: E841G

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	C	T	14: 49,773,861	V130I	probably benign	Het
Akr1c6	T	A	13: 4,446,378	D132E	possibly damaging	Het
Atp10b	A	G	11: 43,222,159	E844G	probably damaging	Het
Bbx	T	A	16: 50,225,266	M311L	probably benign	Het
Bzw2	A	T	12: 36,119,070	M153K	probably benign	Het
C1qtnf6	G	T	15: 78,525,374	T91K	probably benign	Het
Cdh4	A	G	2: 179,894,035	D793G	possibly damaging	Het
Ces4a	A	G	8: 105,131,982	I11V	probably benign	Het
Cpne9	T	C	6: 113,304,512	L518P	probably damaging	Het
Dip2c	T	A	13: 9,575,483		probably null	Het
Fam129a	T	A	1: 151,644,930	V125E	probably damaging	Het
Fam135b	T	C	15: 71,462,934	N804D	probably benign	Het
Frem3	G	A	8: 80,612,772	D565N	probably benign	Het
Fscb	T	A	12: 64,473,223	T490S	unknown	Het
Fuca1	A	G	4: 135,920,895	D31G	probably damaging	Het
Gbp8	G	T	5: 105,018,802	N220K	possibly damaging	Het
Gfra2	T	C	14: 70,925,897	F207L	probably damaging	Het
Gm9495	A	T	8: 69,429,330	D331E	probably benign	Het
Grap2	A	G	15: 80,638,483	N70S	probably benign	Het
Ifna13	C	A	4: 88,643,920	E156*	probably null	Het
Jmjd1c	G	A	10: 67,218,383	R22H	probably benign	Het
Macf1	A	G	4: 123,471,341	V3209A	probably benign	Het
Muc5b	A	G	7: 141,858,368	T1684A	unknown	Het
Naip5	T	A	13: 100,222,934	E598V	probably damaging	Het
Notch1	G	A	2: 26,481,603	T278I	probably damaging	Het
Olfr1426	A	G	19: 12,088,279	V171A	possibly damaging	Het
Olfr177	A	T	16: 58,872,596	Y185N	probably damaging	Het
Olfr618	T	G	7: 103,598,237	F307C	possibly damaging	Het
Olfr729	A	T	14: 50,148,366	C169*	probably null	Het
Orm1	A	T	4: 63,344,701	E35V	probably damaging	Het
Pak1	T	A	7: 97,854,632	I58N	possibly damaging	Het
Pcdhb9	G	T	18: 37,401,415	R154I	probably benign	Het
Pdpr	G	A	8: 111,125,680	V560I	probably damaging	Het
Pkdcc	T	C	17: 83,223,926	F455L	probably damaging	Het
Pus7l	A	T	15: 94,540,262	F234Y	probably damaging	Het
Rab3gap2	T	A	1: 185,258,525	L632Q	probably damaging	Het
Rarb	T	A	14: 16,819,015		probably benign	Het
Rom1	A	T	19: 8,928,107	H236Q	possibly damaging	Het
Secisbp2	T	C	13: 51,665,316	S311P	probably benign	Het
Slc26a1	T	C	5: 108,672,316	D355G	probably benign	Het
Slc28a3	C	T	13: 58,559,263	A574T	probably damaging	Het
Sox11	A	G	12: 27,342,314	V32A	possibly damaging	Het
Spata17	T	C	1: 187,183,239	Y107C	probably damaging	Het
Speer1	C	A	5: 11,344,238	Y104*	probably null	Het
Stxbp5l	T	C	16: 37,204,452	T595A	probably benign	Het
Syt11	T	C	3: 88,747,842	D78G	probably damaging	Het
Tatdn2	T	G	6: 113,707,387	I674S	probably damaging	Het
Tex14	T	A	11: 87,493,052	S189R	probably benign	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Tor3a	T	C	1: 156,655,803	T350A	probably benign	Het
Trove2	T	A	1: 143,765,779	K315*	probably null	Het
Ttr	T	G	18: 20,666,493	V36G	probably damaging	Het
Vmn1r129	A	T	7: 21,361,280	H4Q	probably null	Het
Vmn1r32	A	G	6: 66,553,639	M51T	possibly damaging	Het
Zfp141	T	C	7: 42,476,263	T262A	possibly damaging	Het
Zfp980	T	A	4: 145,701,026	N108K	probably benign	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
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'- AAGTAGCCGTGTGGTTCAG -3'
(R):5'- TACACAATGGCGTGGTTTAGC -3'

Sequencing Primer
(F):5'- TATACTAGTGGTAAGTGCCCCTGAC -3'
(R):5'- TGGTTTAGCTAGGAGAAACAATGCC -3'

Posted On

2021-07-15