Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Pard3b'

667859

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 #

R8766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62159478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 242 (C242R)

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: C242R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: C242R

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: C242R

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: C242R

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: C242R

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: C242R

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,774,040	N70I	probably damaging	Het
Actr10	T	G	12: 70,954,656		probably null	Het
Amz1	A	G	5: 140,748,166	N166D	probably benign	Het
Asah2	A	G	19: 32,057,880	F15S	possibly damaging	Het
Axin2	A	G	11: 108,923,831	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,075,143	L326P	probably damaging	Het
Ccdc130	C	T	8: 84,261,794	R68H	probably damaging	Het
Ccdc169	T	C	3: 55,150,824		probably null	Het
Cct8	A	T	16: 87,488,868	V234D	probably damaging	Het
Cdh19	T	C	1: 110,890,114	R633G	probably benign	Het
Clca1	A	T	3: 145,009,178		probably benign	Het
Crat	G	A	2: 30,407,063	P293S	probably benign	Het
Crybg3	G	A	16: 59,555,333	R139C	probably benign	Het
Ctbs	A	G	3: 146,459,833	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 115,110,065	H438R	probably damaging	Het
Dglucy	C	A	12: 100,871,447	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,092,861	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,326,681	E341G	probably benign	Het
Gk2	T	A	5: 97,456,251	M243L	probably benign	Het
Grhl3	T	A	4: 135,573,413	E4D	probably benign	Het
Hsd17b13	T	C	5: 103,977,143	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,464,528	Q9*	probably null	Het
Izumo1	G	A	7: 45,627,072	S353N	probably benign	Het
Klhl31	T	C	9: 77,650,163	S54P	possibly damaging	Het
Lonp2	T	C	8: 86,636,570	M272T	probably benign	Het
Ltbp1	T	A	17: 75,296,255	C682*	probably null	Het
Magi2	A	G	5: 20,195,125	K52E	probably benign	Het
Nab2	C	T	10: 127,666,548		probably benign	Het
Ncapg2	T	A	12: 116,426,736	V435D	probably damaging	Het
Nid2	A	G	14: 19,752,272	D87G	probably benign	Het
Olfr461	T	C	6: 40,544,551	M143V	probably benign	Het
Olfr518	A	G	7: 108,881,246	M120T	probably benign	Het
Pamr1	T	C	2: 102,550,193	M1T	probably null	Het
Pcif1	T	A	2: 164,885,426	V106E	probably benign	Het
Pitx2	T	A	3: 129,218,574	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,336,438	Y877*	probably null	Het
Prkch	A	G	12: 73,702,538	N354S	probably benign	Het
Psen2	T	A	1: 180,245,636	D40V	probably benign	Het
Rfx7	T	A	9: 72,616,739	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,668,969	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,230,452	D263G	probably benign	Het
Tox	T	C	4: 6,823,047	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,986,115	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,386,372	V660M	probably damaging	Het
Zfp592	A	T	7: 81,024,605	H439L	probably benign	Het
Zfp775	A	T	6: 48,620,179	H329L	probably damaging	Het
Zswim5	T	C	4: 116,958,807	L364P	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
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'- TGAAAGATGAACCATTTGGCTG -3'
(R):5'- GATGGTCACAGGTTCCATAATGGG -3'

Sequencing Primer
(F):5'- CTGAATAGCTGCAAGCAGA -3'
(R):5'- CCATAATGGGACTTGGCTTGACATTC -3'

Posted On

2021-03-08