Mutagenetix > Incidental Mutations

Incidental Mutation 'R0379:Phldb2'

30902

Institutional Source

Beutler Lab

Gene Symbol

Phldb2

Ensembl Gene

ENSMUSG00000033149

Gene Name

pleckstrin homology like domain, family B, member 2

Synonyms

LL5b, LL5beta, C820004H04Rik

MMRRC Submission

038585-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45746243-45953598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45781451 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 754 (D754Y)

Ref Sequence

ENSEMBL: ENSMUSP00000123284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802] [ENSMUST00000142697]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036355
AA Change: D709Y

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

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: D709Y

Domain	Start	End	E-Value	Type
low complexity region	267	283	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
coiled coil region	580	692	N/A	INTRINSIC
coiled coil region	724	800	N/A	INTRINSIC
coiled coil region	1027	1097	N/A	INTRINSIC
PH	1140	1244	6.45e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076333
AA Change: D709Y

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

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: D709Y

Domain	Start	End	E-Value	Type
low complexity region	267	283	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
coiled coil region	580	692	N/A	INTRINSIC
coiled coil region	724	800	N/A	INTRINSIC
low complexity region	901	913	N/A	INTRINSIC
coiled coil region	1080	1150	N/A	INTRINSIC
PH	1193	1297	6.45e-17	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000131003
AA Change: D72Y

SMART Domains

Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: D72Y

Domain	Start	End	E-Value	Type
coiled coil region	1	55	N/A	INTRINSIC
coiled coil region	87	163	N/A	INTRINSIC
coiled coil region	342	412	N/A	INTRINSIC
PH	456	560	6.45e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133111

Predicted Effect

probably damaging
Transcript: ENSMUST00000134802
AA Change: D754Y

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

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: D754Y

Domain	Start	End	E-Value	Type
low complexity region	20	28	N/A	INTRINSIC
low complexity region	312	328	N/A	INTRINSIC
low complexity region	471	492	N/A	INTRINSIC
coiled coil region	625	737	N/A	INTRINSIC
coiled coil region	769	845	N/A	INTRINSIC
coiled coil region	1072	1131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142697

SMART Domains

Protein: ENSMUSP00000121981
Gene: ENSMUSG00000033149

Domain	Start	End	E-Value	Type
SCOP:d1k4wa_	25	116	5e-3	SMART

Meta Mutation Damage Score

0.3889

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,785,546		probably benign	Het
4930512M02Rik	A	G	11: 11,589,365		probably benign	Het
Apba1	A	C	19: 23,934,830	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,860,400		probably null	Het
Arsb	T	C	13: 93,940,627	S501P	probably benign	Het
Atp10b	A	G	11: 43,254,314	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,736	I126T	possibly damaging	Het
Brd9	T	C	13: 73,942,683		probably benign	Het
Cd93	T	C	2: 148,441,510		probably benign	Het
Chd5	A	G	4: 152,383,321	K1692R	probably benign	Het
Clcn4	T	C	7: 7,296,792	T13A	probably damaging	Het
Clec14a	A	G	12: 58,268,794	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,718,440	V97A	probably benign	Het
Col24a1	G	A	3: 145,524,142	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,641,440	T180S	probably benign	Het
Cybrd1	T	C	2: 71,129,755	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,621,474	V468M	probably damaging	Het
Dlk1	A	G	12: 109,455,059		probably benign	Het
Dnah7b	A	T	1: 46,140,176	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,668,250	E376A	possibly damaging	Het
Etl4	T	A	2: 20,807,354	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106	T238A	probably benign	Het
Fer1l6	A	G	15: 58,548,338	I33M	probably benign	Het
Fndc3a	A	G	14: 72,556,609	S830P	probably damaging	Het
Fras1	C	T	5: 96,755,509	R3082*	probably null	Het
Galnt13	T	C	2: 55,060,492	V395A	possibly damaging	Het
Gm10334	T	G	6: 41,445,256		probably benign	Het
Gpd2	C	T	2: 57,345,263	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,459,002		probably null	Het
Hydin	A	G	8: 110,509,127		probably benign	Het
Ints5	G	T	19: 8,897,133	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,670	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,479	A67T	probably benign	Het
Lrp1	T	G	10: 127,594,969	T404P	probably damaging	Het
March7	T	C	2: 60,234,126	S249P	probably benign	Het
Mcm10	T	A	2: 5,008,623	K66M	probably benign	Het
Mtmr7	C	A	8: 40,551,601	D645Y	probably damaging	Het
Muc6	T	A	7: 141,636,955	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,369,295		probably benign	Het
Myo18a	G	A	11: 77,850,806	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,443,075	L957S	probably damaging	Het
Ncoa3	T	C	2: 166,054,502	S442P	probably damaging	Het
Olfr1093	G	A	2: 86,785,735	E2K	probably benign	Het
Olfr850	T	A	9: 19,477,480	T257S	possibly damaging	Het
Olfr986	G	A	9: 40,187,433	G106D	probably damaging	Het
Pdcd6	G	T	13: 74,309,712	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 109,027,742		probably benign	Het
Pfkm	A	G	15: 98,126,314	H401R	probably benign	Het
Plekhb2	T	A	1: 34,863,114	M49K	probably damaging	Het
Polrmt	A	G	10: 79,737,611	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 34,985,078	N64S	probably benign	Het
Psg16	T	C	7: 17,130,658	S393P	probably benign	Het
Rundc1	C	T	11: 101,425,147	T15I	probably benign	Het
Scaf11	A	G	15: 96,431,816	L143S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpinf1	T	G	11: 75,413,945	I197L	probably benign	Het
Siglec1	C	T	2: 131,074,525		probably benign	Het
Slc28a1	G	A	7: 81,138,177	V271I	probably benign	Het
Sntg1	T	C	1: 8,782,824	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,359,736		probably benign	Het
Suclg1	T	C	6: 73,256,228	I51T	possibly damaging	Het
Syne1	C	T	10: 5,541,989	R9Q	probably damaging	Het
Trim47	T	A	11: 116,106,518	H470L	probably damaging	Het
Ttc41	T	A	10: 86,712,977	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 140,032,192	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,641,116	T474M	probably damaging	Het
Ubr5	A	T	15: 38,018,957	N777K	probably benign	Het
Ush2a	T	C	1: 188,451,819	L1440P	probably damaging	Het
Usp28	A	C	9: 49,024,067	D458A	possibly damaging	Het
Vcan	A	T	13: 89,703,546	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,756,846	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,286,478	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,728,139	I549N	probably damaging	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zfp516	A	T	18: 82,987,670	K900*	probably null	Het
Zfp974	T	A	7: 27,910,932	N456I	probably damaging	Het

Other mutations in Phldb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Phldb2	APN	16	45772254	missense	probably damaging	1.00
IGL00485:Phldb2	APN	16	45757188	missense	possibly damaging	0.75
IGL00544:Phldb2	APN	16	45825311	missense	probably damaging	1.00
IGL00547:Phldb2	APN	16	45825535	missense	probably benign	0.00
IGL00835:Phldb2	APN	16	45751456	missense	probably damaging	1.00
IGL00987:Phldb2	APN	16	45763102	missense	possibly damaging	0.78
IGL01102:Phldb2	APN	16	45825060	missense	probably damaging	1.00
IGL01530:Phldb2	APN	16	45802729	missense	probably damaging	1.00
IGL01549:Phldb2	APN	16	45774318	missense	probably benign	0.00
IGL01712:Phldb2	APN	16	45751429	missense	probably damaging	1.00
IGL01755:Phldb2	APN	16	45825582	missense	probably damaging	0.96
IGL01823:Phldb2	APN	16	45825144	missense	probably damaging	0.97
IGL02353:Phldb2	APN	16	45748779	missense	probably damaging	1.00
IGL02360:Phldb2	APN	16	45748779	missense	probably damaging	1.00
IGL02716:Phldb2	APN	16	45801590	missense	probably damaging	0.99
R0139:Phldb2	UTSW	16	45770666	splice site	probably benign
R0312:Phldb2	UTSW	16	45789047	missense	probably damaging	1.00
R0535:Phldb2	UTSW	16	45757127	missense	probably damaging	1.00
R1387:Phldb2	UTSW	16	45825994	missense	possibly damaging	0.69
R1444:Phldb2	UTSW	16	45757253	splice site	probably benign
R1487:Phldb2	UTSW	16	45789024	missense	probably damaging	1.00
R1501:Phldb2	UTSW	16	45777783	missense	probably damaging	1.00
R1605:Phldb2	UTSW	16	45770779	splice site	probably benign
R1716:Phldb2	UTSW	16	45775050	missense	probably benign	0.01
R1732:Phldb2	UTSW	16	45757166	missense	probably damaging	1.00
R1779:Phldb2	UTSW	16	45801625	missense	probably damaging	1.00
R1824:Phldb2	UTSW	16	45826011	missense	probably benign	0.14
R2001:Phldb2	UTSW	16	45774195	missense	possibly damaging	0.66
R2066:Phldb2	UTSW	16	45770758	missense	probably damaging	1.00
R2122:Phldb2	UTSW	16	45762941	missense	probably damaging	0.99
R2448:Phldb2	UTSW	16	45825363	missense	probably damaging	1.00
R2932:Phldb2	UTSW	16	45748785	missense	possibly damaging	0.85
R3076:Phldb2	UTSW	16	45825010	missense	probably benign	0.00
R3078:Phldb2	UTSW	16	45825010	missense	probably benign	0.00
R3779:Phldb2	UTSW	16	45748755	missense	probably damaging	1.00
R3914:Phldb2	UTSW	16	45757163	missense	probably damaging	1.00
R4536:Phldb2	UTSW	16	45770681	missense	probably benign	0.04
R4568:Phldb2	UTSW	16	45777718	nonsense	probably null
R4798:Phldb2	UTSW	16	45825874	missense	probably damaging	1.00
R4853:Phldb2	UTSW	16	45802716	missense	probably damaging	0.99
R4906:Phldb2	UTSW	16	45751395	missense	probably damaging	1.00
R4984:Phldb2	UTSW	16	45825633	missense	probably damaging	1.00
R5078:Phldb2	UTSW	16	45777742	missense	possibly damaging	0.85
R5137:Phldb2	UTSW	16	45808258	missense	possibly damaging	0.85
R5237:Phldb2	UTSW	16	45747886	missense	probably damaging	0.99
R5410:Phldb2	UTSW	16	45825612	missense	possibly damaging	0.77
R5825:Phldb2	UTSW	16	45763097	missense	probably benign	0.11
R5874:Phldb2	UTSW	16	45801625	missense	probably damaging	1.00
R5907:Phldb2	UTSW	16	45825188	missense	probably damaging	1.00
R6332:Phldb2	UTSW	16	45774246	missense	probably benign
R6354:Phldb2	UTSW	16	45825114	missense	probably damaging	1.00
R6355:Phldb2	UTSW	16	45825338	missense	probably damaging	0.99
R6383:Phldb2	UTSW	16	45748750	missense	probably damaging	1.00
R6463:Phldb2	UTSW	16	45774993	missense	probably benign	0.37
R6513:Phldb2	UTSW	16	45747877	missense	possibly damaging	0.96
R6593:Phldb2	UTSW	16	45825427	nonsense	probably null
R6756:Phldb2	UTSW	16	45808320	missense	probably benign	0.02
R6810:Phldb2	UTSW	16	45748725	critical splice donor site	probably null
R6897:Phldb2	UTSW	16	45777775	missense	probably damaging	1.00
R7010:Phldb2	UTSW	16	45751505	missense	probably damaging	0.99
R7142:Phldb2	UTSW	16	45757176	nonsense	probably null
R7149:Phldb2	UTSW	16	45751532	nonsense	probably null
R7249:Phldb2	UTSW	16	45801614	missense	probably damaging	1.00
R7300:Phldb2	UTSW	16	45825562	missense	probably damaging	1.00
R7328:Phldb2	UTSW	16	45758209	critical splice acceptor site	probably null
R7515:Phldb2	UTSW	16	45774240	missense	possibly damaging	0.90
R7840:Phldb2	UTSW	16	45751364	missense	probably damaging	1.00
R7988:Phldb2	UTSW	16	45825571	missense	probably benign	0.03
R8159:Phldb2	UTSW	16	45860384	missense	possibly damaging	0.82
R8353:Phldb2	UTSW	16	45825022	missense	probably benign	0.00
R8453:Phldb2	UTSW	16	45825022	missense	probably benign	0.00
RF008:Phldb2	UTSW	16	45762974	missense	probably damaging	1.00
Z1176:Phldb2	UTSW	16	45825826	missense	probably benign	0.43
Z1176:Phldb2	UTSW	16	45825827	missense	probably benign	0.04
Z1176:Phldb2	UTSW	16	45953508	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACAGAGCCCACAGTTAGGTCAA -3'
(R):5'- CGAAAAGCTCCAAACTGACTTTTCCCT -3'

Sequencing Primer
(F):5'- ATTACTGTCCCACGGTTAACAGG -3'
(R):5'- AAACTGACTTTTCCCTTCTCACAG -3'

Posted On

2013-04-24