Mutagenetix > Incidental Mutation

Incidental Mutation 'R5714:Pard3b'

451029

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

043186-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62637916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1140 (A1140E)

Ref Sequence

ENSEMBL: ENSMUSP00000040439 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably null
Transcript: ENSMUST00000046673
AA Change: A1140E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: A1140E

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: A1202E

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: A1202E

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: A1103E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: A1103E

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	G	A	7: 34,240,516	Q717*	probably null	Het
Alpk2	G	T	18: 65,305,461	Q1421K	possibly damaging	Het
Ankub1	G	A	3: 57,672,837	T133M	probably benign	Het
Bcar3	G	A	3: 122,455,087	V112M	possibly damaging	Het
Cacna1s	A	G	1: 136,112,066	K1476R	probably benign	Het
Cdc42ep1	C	A	15: 78,849,777	A359E	possibly damaging	Het
Cemip	T	A	7: 83,975,179	D483V	probably damaging	Het
Cyp4f39	G	A	17: 32,481,825	R156H	probably damaging	Het
Dpys	T	A	15: 39,857,157	H69L	probably damaging	Het
Fbxl21	A	G	13: 56,527,072	I79V	probably benign	Het
Fgf9	T	C	14: 58,109,565	L205P	probably damaging	Het
Fkbp14	A	G	6: 54,585,850	F144L	probably damaging	Het
Flnb	A	C	14: 7,929,073	D1934A	probably damaging	Het
Glul	T	C	1: 153,906,497		probably benign	Het
Helz	T	A	11: 107,626,521		probably null	Het
Kap	A	G	6: 133,851,993	Y42H	probably benign	Het
Kcnh8	T	C	17: 52,978,122	V1040A	probably benign	Het
Kptn	A	G	7: 16,120,758		probably null	Het
Lypd3	A	G	7: 24,639,069	T182A	possibly damaging	Het
Mcm5	A	C	8: 75,120,910	D445A	probably damaging	Het
Mios	T	A	6: 8,215,434	I210K	probably damaging	Het
Nat8f2	A	G	6: 85,867,909	V157A	probably benign	Het
Olfr1	T	A	11: 73,395,361		probably null	Het
Pcnt	A	T	10: 76,420,491	D638E	probably damaging	Het
Pdgfra	T	C	5: 75,186,012	I834T	probably damaging	Het
Phyhd1	T	A	2: 30,279,982	L162H	probably damaging	Het
Polg	C	A	7: 79,451,991	A1026S	possibly damaging	Het
Prl7c1	A	T	13: 27,778,966	L18*	probably null	Het
Rars2	T	A	4: 34,645,779	M232K	probably benign	Het
Rtl1	A	G	12: 109,593,680	V575A	probably damaging	Het
Slc18b1	A	T	10: 23,798,766	T40S	probably benign	Het
Slc22a19	T	C	19: 7,711,022	T58A	probably damaging	Het
Slc27a6	A	T	18: 58,598,553	E325V	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Srd5a3	T	A	5: 76,153,566	F214Y	probably benign	Het
Tgfbr2	A	T	9: 116,175,024	L5Q	probably damaging	Het
Tmem94	C	A	11: 115,793,190	Q779K	probably benign	Het
Ttn	G	A	2: 76,822,493	P216S	probably benign	Het
Ush2a	A	T	1: 188,400,257	Q892L	probably benign	Het
Vgll4	A	T	6: 114,890,776	M38K	possibly damaging	Het
Vmn2r109	A	G	17: 20,552,859	I500T	probably damaging	Het
Vps33a	T	C	5: 123,569,500	I135V	probably benign	Het
Wscd1	T	C	11: 71,784,435		probably null	Het
Zfp457	C	A	13: 67,296,426	M4I	possibly damaging	Het
Zfp532	G	A	18: 65,623,535	G180R	possibly damaging	Het
Zfp97	A	G	17: 17,145,609	T457A	possibly 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
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'- GGGCAACAGATCTACGATACC -3'
(R):5'- ACCAATCCTGCAAGCCTTTC -3'

Sequencing Primer
(F):5'- GATCTACGATACCCACAGTACTAC -3'
(R):5'- CTGCAAGCCTTTCAAGTATCAGG -3'

Posted On

2017-01-03