Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Pard3b'

394494

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

042639-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62161161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 286 (H286Q)

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: H286Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: H286Q

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: H286Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: H286Q

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: H286Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: H286Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,209	D183E	probably damaging	Het
4932438A13Rik	T	A	3: 37,040,506		probably benign	Het
4932438A13Rik	T	C	3: 37,041,390	M1016T	probably damaging	Het
9330182L06Rik	A	G	5: 9,428,488	T451A	probably damaging	Het
Aamp	A	G	1: 74,282,539	S76P	probably damaging	Het
Acot8	A	G	2: 164,799,690		probably benign	Het
Angptl7	A	G	4: 148,498,011	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,358,687	T283A	probably benign	Het
Brd3	G	T	2: 27,450,577		probably benign	Het
C130026L21Rik	T	A	5: 111,581,836		noncoding transcript	Het
Cbr4	T	G	8: 61,495,204		probably null	Het
Ccl19	A	G	4: 42,756,268		probably null	Het
Ccl2	G	T	11: 82,036,507	C34F	probably damaging	Het
Dnah12	A	T	14: 26,735,697	T873S	probably benign	Het
Dnah2	T	C	11: 69,448,166	N3118S	probably damaging	Het
Epb41l1	C	A	2: 156,524,939	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,076,032	M567K	probably benign	Het
Fam160b1	T	C	19: 57,386,305	I704T	possibly damaging	Het
Fam208b	A	T	13: 3,574,000	H1983Q	probably benign	Het
Foxf2	T	C	13: 31,627,175	S366P	probably benign	Het
Gamt	T	A	10: 80,258,954	T186S	probably benign	Het
Gcn1l1	T	A	5: 115,606,671	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957	Y194F	probably benign	Het
Golga1	A	T	2: 39,047,735	M115K	probably damaging	Het
Herc3	A	G	6: 58,894,539		probably null	Het
Hes2	C	A	4: 152,159,874	L39I	possibly damaging	Het
Hopx	C	A	5: 77,095,052		probably benign	Het
Idi1	C	T	13: 8,888,042	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,594,081	C325*	probably null	Het
Ighv7-3	T	C	12: 114,153,333	I70V	probably benign	Het
Kcnq3	T	C	15: 66,285,897	T110A	probably benign	Het
Kif5a	T	C	10: 127,239,839	D451G	possibly damaging	Het
Lama3	A	G	18: 12,582,611	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,650,937	D371E	probably damaging	Het
Lyst	T	A	13: 13,636,064	V773E	probably damaging	Het
Map4	T	A	9: 110,079,814	L23*	probably null	Het
Mapkbp1	G	T	2: 120,015,501		probably benign	Het
Mrpl30	A	T	1: 37,897,710	D52V	possibly damaging	Het
Olfr1122	A	T	2: 87,388,658	T318S	probably benign	Het
Olfr71	A	T	4: 43,706,259	L103Q	probably damaging	Het
Parp4	A	G	14: 56,635,731	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,107,115	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,457,616	S22P	probably benign	Het
Prss32	A	T	17: 23,859,247	E302D	possibly damaging	Het
Prss45	A	G	9: 110,840,470	K205E	probably damaging	Het
Puf60	T	A	15: 76,070,474	I500F	probably damaging	Het
Ryr3	A	T	2: 112,640,171	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,338,124		probably benign	Het
Slc3a1	T	G	17: 85,032,845	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,214,132	Y608H	probably damaging	Het
Socs7	G	T	11: 97,378,643	R429L	probably benign	Het
Sorcs3	C	A	19: 48,759,951	N786K	possibly damaging	Het
Sp4	A	T	12: 118,254,472	M680K	probably benign	Het
Tas2r131	T	C	6: 132,957,577	T90A	probably damaging	Het
Tbx21	T	C	11: 97,114,710	H143R	probably benign	Het
Tg	T	A	15: 66,827,382	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057	S355P	probably benign	Het
Tmem86b	G	A	7: 4,628,466	P191S	possibly damaging	Het
Tnc	A	G	4: 64,017,986	C238R	probably damaging	Het
Tnn	T	A	1: 160,140,738	E361D	probably benign	Het
Tpp2	T	C	1: 44,001,473	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,717,079	N22S	probably damaging	Het
Trim75	T	C	8: 64,982,439		probably null	Het
Trrap	T	A	5: 144,826,717	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773	A561E	probably benign	Het
Uqcc1	A	G	2: 155,910,421	V86A	probably damaging	Het
Vmn1r184	A	G	7: 26,267,368	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,611,495	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,398,598		probably null	Het
Vmn2r87	T	C	10: 130,472,429	T647A	probably damaging	Het
Vps13d	A	T	4: 145,086,766	H198Q	probably damaging	Het
Wdfy4	T	C	14: 33,152,670	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,517,134	M3240V	probably benign	Het
Zfp101	T	C	17: 33,381,898	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,535,514	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,726,575		noncoding transcript	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
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
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'- GGATAATCCCCATGCCTCCTATAC -3'
(R):5'- AGGTTTTCTTCCTAGTCTTGGAACC -3'

Sequencing Primer
(F):5'- TATACTTATGACACCAGGCTGC -3'
(R):5'- AACCCGGGGACTCTTGCTTTG -3'

Posted On

2016-06-15