Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Pard3b'

705430

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 #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62166369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 441 (V441F)

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: V441F

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: V441F

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: V441F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: V441F

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: V441F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: V441F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 116,972,120 (GRCm38)	I83V	possibly damaging	Het
Abcf1	G	A	17: 35,961,729 (GRCm38)	A288V	probably null	Het
Acer1	A	T	17: 56,955,598 (GRCm38)	V184D	probably damaging	Het
Apoh	T	C	11: 108,407,481 (GRCm38)		probably null	Het
Arid1a	T	C	4: 133,686,314 (GRCm38)	Y959C	unknown	Het
Asb3	A	T	11: 31,028,962 (GRCm38)	H84L	probably benign	Het
Atxn1	A	C	13: 45,568,018 (GRCm38)	Y134D	probably damaging	Het
BC055324	A	G	1: 163,964,520 (GRCm38)	C610R	probably damaging	Het
Btbd1	T	C	7: 81,829,237 (GRCm38)	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,086,464 (GRCm38)	D170G	probably damaging	Het
Cacna1a	C	A	8: 84,536,417 (GRCm38)	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,271,953 (GRCm38)		probably null	Het
Cc2d2a	T	C	5: 43,695,146 (GRCm38)	F404S	probably damaging	Het
Cdh20	T	C	1: 104,947,336 (GRCm38)	M281T	probably damaging	Het
Cfap54	A	T	10: 92,962,315 (GRCm38)	M1694K	unknown	Het
Chd6	G	T	2: 161,039,261 (GRCm38)	T261K	probably damaging	Het
Cnksr1	T	C	4: 134,229,019 (GRCm38)	S585G	probably damaging	Het
Cntnap2	A	T	6: 46,001,347 (GRCm38)	Y312F	probably damaging	Het
Coa7	T	A	4: 108,338,313 (GRCm38)	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414 (GRCm38)	K145E	unknown	Het
Coq8b	T	A	7: 27,242,061 (GRCm38)	I221N	probably damaging	Het
Cpd	A	T	11: 76,814,781 (GRCm38)	L375*	probably null	Het
Dnah5	T	C	15: 28,448,433 (GRCm38)	F4214S	probably damaging	Het
Dock2	A	G	11: 34,294,139 (GRCm38)	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,631,441 (GRCm38)	A310T	probably damaging	Het
Dpp6	C	A	5: 27,725,644 (GRCm38)	L825I	probably benign	Het
Efcab5	A	G	11: 77,113,705 (GRCm38)	V929A	probably benign	Het
Ephx3	C	G	17: 32,189,316 (GRCm38)	D45H	probably benign	Het
Espl1	G	A	15: 102,296,850 (GRCm38)		probably null	Het
Gm4847	T	C	1: 166,632,712 (GRCm38)	R402G	probably benign	Het
Grid1	T	C	14: 35,026,805 (GRCm38)	L194S	probably damaging	Het
Heatr1	A	T	13: 12,438,610 (GRCm38)	H2122L	probably benign	Het
Il17b	T	A	18: 61,692,263 (GRCm38)	C123*	probably null	Het
Il17rc	T	C	6: 113,474,249 (GRCm38)	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,397,928 (GRCm38)	I619L	probably benign	Het
Itgax	C	A	7: 128,142,260 (GRCm38)	Y814*	probably null	Het
Marcks	C	T	10: 37,136,491 (GRCm38)	E183K	unknown	Het
Mefv	T	C	16: 3,715,388 (GRCm38)	T340A	probably benign	Het
Mical2	A	G	7: 112,351,713 (GRCm38)	K958R	probably benign	Het
Mkl2	T	A	16: 13,401,090 (GRCm38)	D533E	probably benign	Het
Mtor	T	A	4: 148,469,377 (GRCm38)	L811Q	probably benign	Het
Myh4	A	G	11: 67,254,744 (GRCm38)	Y1351C	probably damaging	Het
Neb	T	C	2: 52,263,696 (GRCm38)	M2406V	probably benign	Het
Nebl	T	C	2: 17,348,867 (GRCm38)	T214A	probably benign	Het
Nlrx1	A	T	9: 44,253,408 (GRCm38)	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404 (GRCm38)	A74S	probably benign	Het
Olfr1220	T	A	2: 89,097,913 (GRCm38)	S5C	probably damaging	Het
Olfr711	C	A	7: 106,971,471 (GRCm38)	C291F	probably damaging	Het
Olfr794	T	A	10: 129,570,818 (GRCm38)	N54K	probably benign	Het
Pcsk1	G	A	13: 75,090,072 (GRCm38)	R4K	probably benign	Het
Pisd	G	T	5: 32,737,440 (GRCm38)	N337K	possibly damaging	Het
Pml	T	C	9: 58,249,662 (GRCm38)	K10R	probably benign	Het
Prkci	T	C	3: 31,029,515 (GRCm38)	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,155,999 (GRCm38)	M1225K	probably benign	Het
Prss23	T	C	7: 89,509,934 (GRCm38)	D309G	probably damaging	Het
Pxdn	G	A	12: 30,002,052 (GRCm38)	G743S	probably damaging	Het
Rab29	A	T	1: 131,872,122 (GRCm38)	E145V	probably damaging	Het
Rasef	C	T	4: 73,735,719 (GRCm38)		probably null	Het
Rcbtb1	T	G	14: 59,235,250 (GRCm38)	I496S	probably benign	Het
Rcor1	T	C	12: 111,099,959 (GRCm38)	Y228H		Het
Reep5	C	T	18: 34,357,169 (GRCm38)	V92I	probably damaging	Het
Rfx3	T	C	19: 27,849,929 (GRCm38)	S86G	probably benign	Het
Rptn	T	A	3: 93,397,077 (GRCm38)	D572E	probably benign	Het
Rsl1	A	T	13: 67,176,446 (GRCm38)		probably null	Het
Sbf2	T	C	7: 110,315,085 (GRCm38)	E1630G	possibly damaging	Het
Sele	G	A	1: 164,049,406 (GRCm38)	V84I	probably benign	Het
Serpina1b	T	C	12: 103,732,497 (GRCm38)	D31G	probably benign	Het
Serpina3c	T	C	12: 104,149,554 (GRCm38)	I244V	probably benign	Het
Serpinb6e	A	G	13: 33,833,221 (GRCm38)	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,035,540 (GRCm38)	D150G	probably benign	Het
Sgpp1	T	C	12: 75,722,600 (GRCm38)	T265A	probably benign	Het
Slc9a1	T	A	4: 133,416,370 (GRCm38)	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,554,488 (GRCm38)	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,499,894 (GRCm38)	V650E	possibly damaging	Het
Slit2	T	C	5: 48,192,226 (GRCm38)	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,937 (GRCm38)	E593G	probably null	Het
Spata2l	C	T	8: 123,234,134 (GRCm38)	V139M	probably benign	Het
Suco	T	C	1: 161,856,858 (GRCm38)	K231R	probably damaging	Het
Tenm3	C	A	8: 48,555,900 (GRCm38)		probably benign	Het
Tg	T	C	15: 66,827,269 (GRCm38)	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,696,727 (GRCm38)	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239 (GRCm38)	I447T	possibly damaging	Het
Usp32	G	A	11: 85,051,202 (GRCm38)	L355F	probably benign	Het
Vcpip1	T	C	1: 9,747,702 (GRCm38)	N152S	possibly damaging	Het
Vgf	A	G	5: 137,032,256 (GRCm38)	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,392,124 (GRCm38)	M81K	possibly damaging	Het
Washc5	G	A	15: 59,346,218 (GRCm38)	A732V	possibly damaging	Het
Wdr63	C	T	3: 146,097,140 (GRCm38)		probably null	Het
Xrcc3	T	G	12: 111,805,051 (GRCm38)	D213A	probably damaging	Het
Zeb2	T	C	2: 44,996,976 (GRCm38)	T690A	probably benign	Het
Zfat	G	A	15: 68,084,401 (GRCm38)	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,948,100 (GRCm38)	L302F	probably damaging	Het
Zfp799	A	C	17: 32,820,759 (GRCm38)	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634 (GRCm38)	E348G	unknown	Het
Zhx3	A	G	2: 160,779,473 (GRCm38)	W925R	possibly damaging	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
R1264:Pard3b	UTSW	1	62,164,157 (GRCm38)	missense	probably damaging	1.00
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
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'- TTGCACACTTAATCCACAACATAGG -3'
(R):5'- CTGTGGGAATGCCACAAAC -3'

Sequencing Primer
(F):5'- TGAGCTGTGCCTAGTAACAC -3'
(R):5'- TGTGGGAATGCCACAAACATCAC -3'

Posted On

2022-03-25