Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Pard3b'

699103

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 #

R9215 (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 62164185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 424 (D424G)

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

possibly damaging
Transcript: ENSMUST00000046673
AA Change: D424G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: D424G

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: D424G

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: D424G

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: D424G

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: D424G

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

0.7778

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 108,054,439	A354T	probably damaging	Het
Ano1	A	G	7: 144,595,605	S840P	probably damaging	Het
Arap1	A	G	7: 101,400,007	Q923R	probably benign	Het
Blk	T	C	14: 63,373,550	M448V	probably damaging	Het
Calhm2	C	A	19: 47,132,866	R288L	possibly damaging	Het
Card11	A	T	5: 140,880,399	M913K	possibly damaging	Het
Carf	A	C	1: 60,150,645	E676D	possibly damaging	Het
Ccr2	A	G	9: 124,105,986	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,281,906	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,435,171	T112A	possibly damaging	Het
Clint1	T	C	11: 45,883,751	V28A	probably damaging	Het
Col13a1	C	A	10: 61,850,211		probably null	Het
Cryz	G	T	3: 154,618,809	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,702,173	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,047,506	T320I	possibly damaging	Het
Dock7	G	C	4: 98,970,851	N1431K	unknown	Het
Fam110c	G	T	12: 31,073,864		probably benign	Het
Fam160a2	A	G	7: 105,385,089	L445P	possibly damaging	Het
Fbn2	A	T	18: 58,076,675	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,291,499	R655H	probably damaging	Het
Gbp2	T	C	3: 142,632,275		probably null	Het
Gm5861	A	T	5: 11,186,482	I161F	possibly damaging	Het
Hmgcll1	A	G	9: 76,074,801	D176G	probably benign	Het
Inafm1	A	T	7: 16,273,130	I54N	probably damaging	Het
Ipo9	C	G	1: 135,419,295	M152I	probably benign	Het
Khdrbs3	C	T	15: 69,092,949	T333M	probably damaging	Het
Lefty2	A	G	1: 180,897,580	T292A	probably benign	Het
Lgr5	T	C	10: 115,475,180	E237G	probably damaging	Het
Lrig2	T	A	3: 104,491,008	E268D	probably benign	Het
Mbtd1	T	A	11: 93,943,802	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,620,639	V828A	possibly damaging	Het
Ncapd3	C	A	9: 27,064,090	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,254,028	K857R	probably benign	Het
Olfr1367	C	T	13: 21,347,834	A302V	probably damaging	Het
Olfr1428	A	T	19: 12,108,652	M72K	probably damaging	Het
Olfr728	T	C	14: 50,140,372	Y89C	probably benign	Het
Olfr905	C	T	9: 38,473,398	S217F	probably damaging	Het
P4ha2	T	C	11: 54,126,400	F456L	probably benign	Het
Palm2	T	A	4: 57,709,595	V180E	probably damaging	Het
Pecam1	A	G	11: 106,688,971	S422P	probably damaging	Het
Pias2	T	A	18: 77,128,981	V296E	probably damaging	Het
Plekha5	T	A	6: 140,556,007	S640R	possibly damaging	Het
Prdx2	A	G	8: 84,971,303	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,776,221	E113K	probably benign	Het
Pxylp1	A	T	9: 96,825,058	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,762,240	V226F	possibly damaging	Het
Rel	T	C	11: 23,748,870	D139G	probably benign	Het
Rnf214	C	T	9: 45,904,831	D28N	probably benign	Het
Slc26a5	A	G	5: 21,837,287	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,599,266	A322T	probably benign	Het
Slc47a1	T	C	11: 61,371,821	I81V	probably benign	Het
Smad5	T	A	13: 56,733,002	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,092,835	D241G	probably benign	Het
Spata16	C	T	3: 26,667,845	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,728,009	Q571K	probably benign	Het
Sspo	G	A	6: 48,463,935	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,256,155	F381I	probably damaging	Het
Tjp1	T	C	7: 65,312,847	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,787,116	I762T	probably damaging	Het
Tnxb	A	G	17: 34,672,590	T636A	unknown	Het
Trat1	T	A	16: 48,754,274	R54*	probably null	Het
Tubb4a	A	T	17: 57,080,769	V419E	probably damaging	Het
Txn2	A	T	15: 77,919,765	W84R	unknown	Het
Uggt2	A	G	14: 119,041,594	Y834H	probably damaging	Het
Upp2	T	C	2: 58,780,053	L257P	probably damaging	Het
Vmn2r67	C	T	7: 85,152,800	V98I	probably benign	Het
Wisp2	T	A	2: 163,829,046	C158S	probably damaging	Het
Zfp354c	T	C	11: 50,815,839	I136M	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
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
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'- AGCCTATGTAGAATTTTCAGGTCTG -3'
(R):5'- AGGAGCTGGACATCTGAAGTTG -3'

Sequencing Primer
(F):5'- AGAGTTTACTAAAGCTGGGAGTGTG -3'
(R):5'- AGCTGGACATCTGAAGTTGTTAGTG -3'

Posted On

2022-02-07