Mutagenetix > Incidental Mutation

Incidental Mutation 'R3015:Pard3b'

257619

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

040536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61677983-62681443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62384037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 801 (S801P)

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: S739P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: S739P

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: S801P

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: S801P

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: S801P

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: S801P

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

0.1546

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,849,913 (GRCm39)	H380R	probably benign	Het
Aff3	A	T	1: 38,249,649 (GRCm39)	I486N	probably benign	Het
Bltp1	T	A	3: 36,929,611 (GRCm39)	F76Y	probably damaging	Het
Cfap44	A	C	16: 44,230,832 (GRCm39)	D271A	probably benign	Het
Dbndd2	T	A	2: 164,330,270 (GRCm39)	V34D	probably damaging	Het
Erc2	T	A	14: 27,733,732 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,774,838 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,417,402 (GRCm39)	S2036P	probably damaging	Het
Golph3l	A	G	3: 95,499,024 (GRCm39)		probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ifrd2	G	A	9: 107,467,221 (GRCm39)	G60S	probably null	Het
Ints9	T	A	14: 65,187,727 (GRCm39)	W3R	probably benign	Het
Jmjd1c	A	G	10: 66,993,711 (GRCm39)	E64G	probably damaging	Het
Katnip	T	A	7: 125,465,512 (GRCm39)	H1321Q	probably damaging	Het
Matn3	A	C	12: 9,002,217 (GRCm39)	Q143P	probably damaging	Het
Myo18a	A	T	11: 77,749,846 (GRCm39)		probably benign	Het
Nop9	T	C	14: 55,988,631 (GRCm39)	S358P	probably benign	Het
Pax2	T	C	19: 44,804,463 (GRCm39)	F268L	probably damaging	Het
Pik3r1	A	G	13: 101,823,771 (GRCm39)	I538T	probably damaging	Het
Plekha8	T	C	6: 54,599,107 (GRCm39)	S214P	probably benign	Het
Ppme1	T	C	7: 99,981,084 (GRCm39)	H352R	probably damaging	Het
Ppp1r26	A	C	2: 28,342,314 (GRCm39)	D648A	probably damaging	Het
Prom1	C	A	5: 44,191,733 (GRCm39)	V337F	probably damaging	Het
Rapgef4	T	C	2: 72,028,717 (GRCm39)	I378T	probably damaging	Het
Rnf115	T	C	3: 96,661,675 (GRCm39)	S43P	probably damaging	Het
Rnf216	A	G	5: 143,061,480 (GRCm39)		probably null	Het
Scn7a	G	T	2: 66,530,240 (GRCm39)	Q702K	probably benign	Het
Shisal2b	T	A	13: 104,994,899 (GRCm39)	I83F	possibly damaging	Het
Slc2a1	T	A	4: 118,989,340 (GRCm39)	N13K	probably damaging	Het
Tnr	A	G	1: 159,715,829 (GRCm39)	I864V	probably benign	Het
Tspyl3	A	T	2: 153,066,650 (GRCm39)	M196K	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Umod	T	C	7: 119,071,763 (GRCm39)	D326G	probably damaging	Het
Upf2	A	G	2: 5,980,890 (GRCm39)	D492G	unknown	Het
Vash1	A	G	12: 86,732,194 (GRCm39)	T126A	probably benign	Het
Vsig10l	T	A	7: 43,116,881 (GRCm39)	I574K	possibly 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
R3688:Pard3b	UTSW	1	62,518,728 (GRCm39)	missense	probably benign
R3712:Pard3b	UTSW	1	62,383,137 (GRCm39)	missense	probably damaging	1.00
R3799:Pard3b	UTSW	1	62,200,388 (GRCm39)	missense	probably benign	0.06
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'- GTACCCAGGGCTAAGAAATCC -3'
(R):5'- AATGCCAAGTGCCTTCACAG -3'

Sequencing Primer
(F):5'- CCTATCTTCAAAGGGTACAAGTAGC -3'
(R):5'- TTACCTCAGCATGGCACCG -3'

Posted On

2015-01-11