Mutagenetix > Incidental Mutation

Incidental Mutation 'R3799:Pard3b'

272863

Institutional Source

Beutler Lab

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

PAR3L, PAR3B, 1810008K04Rik, 2010002N16Rik, PAR3beta, Als2cr19, 2810455B10Rik

MMRRC Submission

040877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61677983-62681443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62200388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 309 (N309S)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000046673
AA Change: N309S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: N309S

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: N309S

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: N309S

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: N309S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: N309S

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

0.1358

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,863 (GRCm39)	T140A	probably damaging	Het
Adgrf3	T	C	5: 30,401,821 (GRCm39)	I736V	possibly damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Ccna1	G	T	3: 54,958,040 (GRCm39)	T155K	probably benign	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Dnah12	T	C	14: 26,492,880 (GRCm39)	W1214R	probably damaging	Het
Ehbp1l1	A	G	19: 5,769,143 (GRCm39)	V720A	probably benign	Het
Exog	T	G	9: 119,278,876 (GRCm39)	N186K	probably damaging	Het
Fgfr1	G	A	8: 26,062,453 (GRCm39)	D663N	probably damaging	Het
Flnc	G	A	6: 29,443,738 (GRCm39)	V587M	probably damaging	Het
Gm1527	A	G	3: 28,980,745 (GRCm39)	N615S	possibly damaging	Het
Gm5799	G	A	14: 43,781,150 (GRCm39)	G17E	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,030,504 (GRCm39)		probably benign	Het
Mogat1	A	G	1: 78,505,775 (GRCm39)	I216V	probably benign	Het
Nans	A	G	4: 46,492,839 (GRCm39)	E89G	probably benign	Het
Nuggc	T	A	14: 65,857,087 (GRCm39)	M396K	probably benign	Het
Nup214	T	C	2: 31,924,694 (GRCm39)	F236S	probably damaging	Het
Osbp2	T	C	11: 3,667,883 (GRCm39)	E145G	probably damaging	Het
Paqr3	T	C	5: 97,259,175 (GRCm39)	N43S	probably damaging	Het
Phrf1	C	T	7: 140,839,831 (GRCm39)	R243*	probably null	Het
Ralgapa1	T	C	12: 55,705,915 (GRCm39)	Y1869C	probably damaging	Het
Setd2	T	C	9: 110,378,639 (GRCm39)	V818A	probably benign	Het
Slc35g3	A	G	11: 69,651,743 (GRCm39)	F103L	probably benign	Het
Tcaf3	T	C	6: 42,574,014 (GRCm39)	E66G	probably damaging	Het
Tdpoz8	A	T	3: 92,981,393 (GRCm39)	D137V	probably damaging	Het
Tmem8b	A	G	4: 43,673,892 (GRCm39)		probably benign	Het
Trpa1	T	C	1: 14,963,488 (GRCm39)	N578S	possibly damaging	Het
Vmn2r25	A	T	6: 123,830,143 (GRCm39)	L3I	probably benign	Het
Vmn2r76	T	C	7: 85,875,244 (GRCm39)	T578A	probably benign	Het
Vwa8	T	A	14: 79,302,336 (GRCm39)	F1002I	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,903,754 (GRCm39)	V1228F	probably damaging	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pard3b	APN	1	62,200,357 (GRCm39)	missense	probably damaging	0.99
IGL01363:Pard3b	APN	1	62,676,799 (GRCm39)	missense	probably damaging	1.00
IGL01509:Pard3b	APN	1	62,200,407 (GRCm39)	missense	possibly damaging	0.54
IGL01611:Pard3b	APN	1	62,677,021 (GRCm39)	missense	probably damaging	0.96
IGL01651:Pard3b	APN	1	62,518,963 (GRCm39)	intron	probably benign
IGL01670:Pard3b	APN	1	62,250,807 (GRCm39)	missense	probably damaging	1.00
IGL02156:Pard3b	APN	1	61,807,109 (GRCm39)	missense	possibly damaging	0.84
IGL02232:Pard3b	APN	1	62,205,541 (GRCm39)	missense	probably damaging	1.00
IGL02450:Pard3b	APN	1	62,571,835 (GRCm39)	missense	possibly damaging	0.68
IGL03064:Pard3b	APN	1	62,237,930 (GRCm39)	splice site	probably benign
R0040:Pard3b	UTSW	1	62,676,979 (GRCm39)	missense	probably damaging	1.00
R0040:Pard3b	UTSW	1	62,676,979 (GRCm39)	missense	probably damaging	1.00
R0060:Pard3b	UTSW	1	61,678,474 (GRCm39)	missense	probably damaging	0.97
R0157:Pard3b	UTSW	1	62,250,792 (GRCm39)	missense	probably damaging	0.96
R0333:Pard3b	UTSW	1	62,269,371 (GRCm39)	missense	probably benign	0.00
R0448:Pard3b	UTSW	1	62,205,628 (GRCm39)	missense	probably damaging	1.00
R0465:Pard3b	UTSW	1	62,250,877 (GRCm39)	splice site	probably benign
R0497:Pard3b	UTSW	1	62,479,167 (GRCm39)	splice site	probably null
R1264:Pard3b	UTSW	1	62,203,316 (GRCm39)	missense	probably damaging	1.00
R1468:Pard3b	UTSW	1	62,384,188 (GRCm39)	missense	probably benign	0.00
R1468:Pard3b	UTSW	1	62,384,188 (GRCm39)	missense	probably benign	0.00
R1482:Pard3b	UTSW	1	62,205,526 (GRCm39)	missense	probably damaging	1.00
R1554:Pard3b	UTSW	1	62,677,053 (GRCm39)	missense	probably damaging	0.97
R1836:Pard3b	UTSW	1	62,676,763 (GRCm39)	missense	probably benign	0.03
R2005:Pard3b	UTSW	1	62,184,050 (GRCm39)	missense	probably benign	0.12
R2220:Pard3b	UTSW	1	62,518,842 (GRCm39)	nonsense	probably null
R2435:Pard3b	UTSW	1	62,626,897 (GRCm39)	missense	probably damaging	1.00
R3015:Pard3b	UTSW	1	62,384,037 (GRCm39)	missense	probably damaging	1.00
R3688:Pard3b	UTSW	1	62,518,728 (GRCm39)	missense	probably benign
R3712:Pard3b	UTSW	1	62,383,137 (GRCm39)	missense	probably damaging	1.00
R3942:Pard3b	UTSW	1	62,198,611 (GRCm39)	missense	probably damaging	1.00
R4683:Pard3b	UTSW	1	62,255,675 (GRCm39)	missense	probably benign
R4729:Pard3b	UTSW	1	62,250,843 (GRCm39)	missense	probably damaging	1.00
R4898:Pard3b	UTSW	1	61,807,159 (GRCm39)	missense	probably damaging	1.00
R4981:Pard3b	UTSW	1	62,383,219 (GRCm39)	missense	probably damaging	1.00
R5049:Pard3b	UTSW	1	62,200,320 (GRCm39)	missense	probably benign	0.01
R5223:Pard3b	UTSW	1	62,383,272 (GRCm39)	missense	probably damaging	1.00
R5476:Pard3b	UTSW	1	62,049,565 (GRCm39)	missense	probably benign	0.10
R5541:Pard3b	UTSW	1	61,678,502 (GRCm39)	missense	probably damaging	1.00
R5672:Pard3b	UTSW	1	62,049,625 (GRCm39)	missense	probably benign	0.11
R5714:Pard3b	UTSW	1	62,677,075 (GRCm39)	missense	probably null	0.99
R5722:Pard3b	UTSW	1	62,479,160 (GRCm39)	splice site	probably null
R5793:Pard3b	UTSW	1	61,807,132 (GRCm39)	missense	probably damaging	1.00
R5930:Pard3b	UTSW	1	61,807,289 (GRCm39)	intron	probably benign
R5950:Pard3b	UTSW	1	62,255,690 (GRCm39)	missense	probably benign	0.04
R5997:Pard3b	UTSW	1	62,115,568 (GRCm39)	missense	probably damaging	1.00
R6646:Pard3b	UTSW	1	62,200,280 (GRCm39)	missense	probably benign	0.32
R6720:Pard3b	UTSW	1	62,198,629 (GRCm39)	missense	probably damaging	0.99
R6809:Pard3b	UTSW	1	62,200,340 (GRCm39)	missense	probably damaging	1.00
R7148:Pard3b	UTSW	1	62,479,191 (GRCm39)	missense	probably benign	0.01
R7847:Pard3b	UTSW	1	62,383,093 (GRCm39)	missense	probably benign	0.00
R7879:Pard3b	UTSW	1	62,198,670 (GRCm39)	missense	possibly damaging	0.65
R8048:Pard3b	UTSW	1	62,193,148 (GRCm39)	missense	probably damaging	1.00
R8125:Pard3b	UTSW	1	61,807,143 (GRCm39)	missense	probably damaging	1.00
R8329:Pard3b	UTSW	1	62,676,957 (GRCm39)	missense	probably benign	0.30
R8766:Pard3b	UTSW	1	62,198,637 (GRCm39)	missense	probably benign	0.35
R8833:Pard3b	UTSW	1	62,384,158 (GRCm39)	missense	probably benign	0.00
R8889:Pard3b	UTSW	1	62,677,026 (GRCm39)	missense	probably damaging	0.97
R8892:Pard3b	UTSW	1	62,677,026 (GRCm39)	missense	probably damaging	0.97
R8907:Pard3b	UTSW	1	62,383,294 (GRCm39)	missense	probably benign	0.39
R8909:Pard3b	UTSW	1	62,383,294 (GRCm39)	missense	probably benign	0.39
R9215:Pard3b	UTSW	1	62,203,344 (GRCm39)	missense	probably damaging	1.00
R9310:Pard3b	UTSW	1	62,205,528 (GRCm39)	missense	probably damaging	0.99
R9542:Pard3b	UTSW	1	62,250,786 (GRCm39)	nonsense	probably null
Z1176:Pard3b	UTSW	1	62,278,051 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTATGACACCAGGCTGC -3'
(R):5'- TTGCTGCCAAACCCCATGAG -3'

Sequencing Primer
(F):5'- TATGACACCAGGCTGCTCTGC -3'
(R):5'- TGCCAAACCCCATGAGAGGAG -3'

Posted On

2015-03-25