Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Pard3b'

151101

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

039331-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62164157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 415 (I415F)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046673
AA Change: I415F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: I415F

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: I415F

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: I415F

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: I415F

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: I415F

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: ENSMUST00000188325

Meta Mutation Damage Score

0.8399

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,646,377 (GRCm38)		probably benign	Het
Acadl	A	T	1: 66,857,553 (GRCm38)	C27S	probably benign	Het
Adgrb3	C	T	1: 25,559,850 (GRCm38)	G258E	probably damaging	Het
Akna	T	C	4: 63,381,725 (GRCm38)		probably null	Het
Angpt2	T	C	8: 18,741,217 (GRCm38)	N21S	probably benign	Het
Ano6	A	G	15: 95,949,566 (GRCm38)	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,642,519 (GRCm38)		probably benign	Het
Clec10a	T	A	11: 70,169,741 (GRCm38)	S103T	possibly damaging	Het
Clstn2	T	C	9: 97,457,609 (GRCm38)	R770G	probably benign	Het
Cndp2	C	A	18: 84,678,791 (GRCm38)	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,620,089 (GRCm38)	V2653A	probably benign	Het
Col4a3	A	T	1: 82,643,301 (GRCm38)		probably benign	Het
Daam1	A	G	12: 71,975,311 (GRCm38)		probably benign	Het
H2-M9	A	G	17: 36,642,592 (GRCm38)	V18A	probably benign	Het
Heatr1	T	A	13: 12,424,610 (GRCm38)		probably benign	Het
Impg1	T	C	9: 80,314,393 (GRCm38)	D715G	probably benign	Het
Incenp	T	C	19: 9,884,015 (GRCm38)	K425E	unknown	Het
Kif13b	T	C	14: 64,776,232 (GRCm38)		probably benign	Het
Msh2	T	A	17: 87,707,179 (GRCm38)		probably null	Het
Myh2	A	G	11: 67,180,778 (GRCm38)	N474D	probably damaging	Het
Myo18b	T	C	5: 112,830,319 (GRCm38)	T1246A	probably benign	Het
Nob1	T	C	8: 107,421,504 (GRCm38)	H102R	probably damaging	Het
Or4z4	G	T	19: 12,098,834 (GRCm38)	D268E	probably benign	Het
Pfkl	T	G	10: 77,993,416 (GRCm38)	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,485,763 (GRCm38)	V447A	probably benign	Het
Poli	C	T	18: 70,517,503 (GRCm38)	V266I	probably benign	Het
Rapgef4	A	T	2: 72,031,105 (GRCm38)	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,375,149 (GRCm38)		probably benign	Het
Six3	T	A	17: 85,621,857 (GRCm38)	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,218,238 (GRCm38)	E944D	possibly damaging	Het
Sptb	A	G	12: 76,612,607 (GRCm38)	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,373,837 (GRCm38)		probably benign	Het
Trrap	A	G	5: 144,789,599 (GRCm38)		probably benign	Het
Wbp11	A	G	6: 136,814,515 (GRCm38)		probably benign	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pard3b	APN	1	62,161,198 (GRCm38)	missense	probably damaging	0.99
IGL01363:Pard3b	APN	1	62,637,640 (GRCm38)	missense	probably damaging	1.00
IGL01509:Pard3b	APN	1	62,161,248 (GRCm38)	missense	possibly damaging	0.54
IGL01611:Pard3b	APN	1	62,637,862 (GRCm38)	missense	probably damaging	0.96
IGL01651:Pard3b	APN	1	62,479,804 (GRCm38)	intron	probably benign
IGL01670:Pard3b	APN	1	62,211,648 (GRCm38)	missense	probably damaging	1.00
IGL02156:Pard3b	APN	1	61,767,950 (GRCm38)	missense	possibly damaging	0.84
IGL02232:Pard3b	APN	1	62,166,382 (GRCm38)	missense	probably damaging	1.00
IGL02450:Pard3b	APN	1	62,532,676 (GRCm38)	missense	possibly damaging	0.68
IGL03064:Pard3b	APN	1	62,198,771 (GRCm38)	splice site	probably benign
R0040:Pard3b	UTSW	1	62,637,820 (GRCm38)	missense	probably damaging	1.00
R0040:Pard3b	UTSW	1	62,637,820 (GRCm38)	missense	probably damaging	1.00
R0060:Pard3b	UTSW	1	61,639,315 (GRCm38)	missense	probably damaging	0.97
R0157:Pard3b	UTSW	1	62,211,633 (GRCm38)	missense	probably damaging	0.96
R0333:Pard3b	UTSW	1	62,230,212 (GRCm38)	missense	probably benign	0.00
R0448:Pard3b	UTSW	1	62,166,469 (GRCm38)	missense	probably damaging	1.00
R0465:Pard3b	UTSW	1	62,211,718 (GRCm38)	splice site	probably benign
R0497:Pard3b	UTSW	1	62,440,008 (GRCm38)	splice site	probably null
R1468:Pard3b	UTSW	1	62,345,029 (GRCm38)	missense	probably benign	0.00
R1468:Pard3b	UTSW	1	62,345,029 (GRCm38)	missense	probably benign	0.00
R1482:Pard3b	UTSW	1	62,166,367 (GRCm38)	missense	probably damaging	1.00
R1554:Pard3b	UTSW	1	62,637,894 (GRCm38)	missense	probably damaging	0.97
R1836:Pard3b	UTSW	1	62,637,604 (GRCm38)	missense	probably benign	0.03
R2005:Pard3b	UTSW	1	62,144,891 (GRCm38)	missense	probably benign	0.12
R2220:Pard3b	UTSW	1	62,479,683 (GRCm38)	nonsense	probably null
R2435:Pard3b	UTSW	1	62,587,738 (GRCm38)	missense	probably damaging	1.00
R3015:Pard3b	UTSW	1	62,344,878 (GRCm38)	missense	probably damaging	1.00
R3688:Pard3b	UTSW	1	62,479,569 (GRCm38)	missense	probably benign
R3712:Pard3b	UTSW	1	62,343,978 (GRCm38)	missense	probably damaging	1.00
R3799:Pard3b	UTSW	1	62,161,229 (GRCm38)	missense	probably benign	0.06
R3942:Pard3b	UTSW	1	62,159,452 (GRCm38)	missense	probably damaging	1.00
R4683:Pard3b	UTSW	1	62,216,516 (GRCm38)	missense	probably benign
R4729:Pard3b	UTSW	1	62,211,684 (GRCm38)	missense	probably damaging	1.00
R4898:Pard3b	UTSW	1	61,768,000 (GRCm38)	missense	probably damaging	1.00
R4981:Pard3b	UTSW	1	62,344,060 (GRCm38)	missense	probably damaging	1.00
R5049:Pard3b	UTSW	1	62,161,161 (GRCm38)	missense	probably benign	0.01
R5223:Pard3b	UTSW	1	62,344,113 (GRCm38)	missense	probably damaging	1.00
R5476:Pard3b	UTSW	1	62,010,406 (GRCm38)	missense	probably benign	0.10
R5541:Pard3b	UTSW	1	61,639,343 (GRCm38)	missense	probably damaging	1.00
R5672:Pard3b	UTSW	1	62,010,466 (GRCm38)	missense	probably benign	0.11
R5714:Pard3b	UTSW	1	62,637,916 (GRCm38)	missense	probably null	0.99
R5722:Pard3b	UTSW	1	62,440,001 (GRCm38)	splice site	probably null
R5793:Pard3b	UTSW	1	61,767,973 (GRCm38)	missense	probably damaging	1.00
R5930:Pard3b	UTSW	1	61,768,130 (GRCm38)	intron	probably benign
R5950:Pard3b	UTSW	1	62,216,531 (GRCm38)	missense	probably benign	0.04
R5997:Pard3b	UTSW	1	62,076,409 (GRCm38)	missense	probably damaging	1.00
R6646:Pard3b	UTSW	1	62,161,121 (GRCm38)	missense	probably benign	0.32
R6720:Pard3b	UTSW	1	62,159,470 (GRCm38)	missense	probably damaging	0.99
R6809:Pard3b	UTSW	1	62,161,181 (GRCm38)	missense	probably damaging	1.00
R7148:Pard3b	UTSW	1	62,440,032 (GRCm38)	missense	probably benign	0.01
R7847:Pard3b	UTSW	1	62,343,934 (GRCm38)	missense	probably benign	0.00
R7879:Pard3b	UTSW	1	62,159,511 (GRCm38)	missense	possibly damaging	0.65
R8048:Pard3b	UTSW	1	62,153,989 (GRCm38)	missense	probably damaging	1.00
R8125:Pard3b	UTSW	1	61,767,984 (GRCm38)	missense	probably damaging	1.00
R8329:Pard3b	UTSW	1	62,637,798 (GRCm38)	missense	probably benign	0.30
R8766:Pard3b	UTSW	1	62,159,478 (GRCm38)	missense	probably benign	0.35
R8833:Pard3b	UTSW	1	62,344,999 (GRCm38)	missense	probably benign	0.00
R8889:Pard3b	UTSW	1	62,637,867 (GRCm38)	missense	probably damaging	0.97
R8892:Pard3b	UTSW	1	62,637,867 (GRCm38)	missense	probably damaging	0.97
R8907:Pard3b	UTSW	1	62,344,135 (GRCm38)	missense	probably benign	0.39
R8909:Pard3b	UTSW	1	62,344,135 (GRCm38)	missense	probably benign	0.39
R9215:Pard3b	UTSW	1	62,164,185 (GRCm38)	missense	probably damaging	1.00
R9310:Pard3b	UTSW	1	62,166,369 (GRCm38)	missense	probably damaging	0.99
R9542:Pard3b	UTSW	1	62,211,627 (GRCm38)	nonsense	probably null
Z1176:Pard3b	UTSW	1	62,238,892 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCACCTGCTTGGGAGGGAAGATG -3'
(R):5'- TTTGGGGATGGCAGTGGGACCAAC -3'

Sequencing Primer
(F):5'- ACTGTGGAATCAATACTCTGGGC -3'
(R):5'- CAAGGGATAGCAACGGACTACTAC -3'

Posted On

2014-01-29