Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00547:Phldb2'

3963

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phldb2

Ensembl Gene

ENSMUSG00000033149

Gene Name

pleckstrin homology like domain, family B, member 2

Synonyms

LL5b, C820004H04Rik, LL5beta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00547

Quality Score

Status

Chromosome

Chromosomal Location

45566606-45773961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45645898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 228 (S228P)

Ref Sequence

ENSEMBL: ENSMUSP00000123284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802] [ENSMUST00000136405]

AlphaFold

Q8K1N2

Predicted Effect

probably benign
Transcript: ENSMUST00000036355
AA Change: S183P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: S183P

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 benign
Transcript: ENSMUST00000076333
AA Change: S183P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: S183P

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

noncoding transcript
Transcript: ENSMUST00000125433

Predicted Effect

probably benign
Transcript: ENSMUST00000134802
AA Change: S228P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: S228P

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

probably benign
Transcript: ENSMUST00000136405

SMART Domains

Protein: ENSMUSP00000121800
Gene: ENSMUSG00000033149

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,076,302 (GRCm39)	Q1345K	possibly damaging	Het
Arhgap40	T	C	2: 158,380,546 (GRCm39)		probably benign	Het
Atp8b4	A	G	2: 126,200,817 (GRCm39)	C784R	probably damaging	Het
Bicral	T	C	17: 47,136,278 (GRCm39)	I311V	probably benign	Het
Cep290	G	A	10: 100,346,570 (GRCm39)	R551H	probably damaging	Het
Chd9	A	T	8: 91,732,426 (GRCm39)	M842L	probably damaging	Het
Cntn6	A	G	6: 104,627,361 (GRCm39)	N65D	probably damaging	Het
Dnah8	C	T	17: 31,034,677 (GRCm39)	Q4199*	probably null	Het
Ercc3	T	C	18: 32,397,598 (GRCm39)		probably benign	Het
Gm454	T	C	5: 138,205,389 (GRCm39)		noncoding transcript	Het
Gm7073	A	T	X: 59,481,748 (GRCm39)	D204E	probably benign	Het
Myo5a	A	G	9: 75,048,735 (GRCm39)	H286R	probably benign	Het
Nelfb	C	A	2: 25,094,300 (GRCm39)	M354I	possibly damaging	Het
Oas3	C	T	5: 120,915,507 (GRCm39)		probably benign	Het
Pls3	A	T	X: 74,837,874 (GRCm39)	I429N	probably damaging	Het
Ptprq	C	T	10: 107,554,402 (GRCm39)	V108M	probably damaging	Het
Rlf	A	G	4: 121,027,883 (GRCm39)	S138P	possibly damaging	Het
Rpn2	T	C	2: 157,156,833 (GRCm39)	Y479H	probably damaging	Het
Sdr16c5	A	T	4: 4,012,320 (GRCm39)		probably benign	Het
Slco6c1	A	T	1: 97,015,674 (GRCm39)	N372K	probably benign	Het
Stag2	T	C	X: 41,335,892 (GRCm39)	I563T	probably benign	Het
Vrk1	T	C	12: 106,024,840 (GRCm39)	S239P	probably damaging	Het

Other mutations in Phldb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Phldb2	APN	16	45,592,617 (GRCm39)	missense	probably damaging	1.00
IGL00485:Phldb2	APN	16	45,577,551 (GRCm39)	missense	possibly damaging	0.75
IGL00544:Phldb2	APN	16	45,645,674 (GRCm39)	missense	probably damaging	1.00
IGL00835:Phldb2	APN	16	45,571,819 (GRCm39)	missense	probably damaging	1.00
IGL00987:Phldb2	APN	16	45,583,465 (GRCm39)	missense	possibly damaging	0.78
IGL01102:Phldb2	APN	16	45,645,423 (GRCm39)	missense	probably damaging	1.00
IGL01530:Phldb2	APN	16	45,623,092 (GRCm39)	missense	probably damaging	1.00
IGL01549:Phldb2	APN	16	45,594,681 (GRCm39)	missense	probably benign	0.00
IGL01712:Phldb2	APN	16	45,571,792 (GRCm39)	missense	probably damaging	1.00
IGL01755:Phldb2	APN	16	45,645,945 (GRCm39)	missense	probably damaging	0.96
IGL01823:Phldb2	APN	16	45,645,507 (GRCm39)	missense	probably damaging	0.97
IGL02353:Phldb2	APN	16	45,569,142 (GRCm39)	missense	probably damaging	1.00
IGL02360:Phldb2	APN	16	45,569,142 (GRCm39)	missense	probably damaging	1.00
IGL02716:Phldb2	APN	16	45,621,953 (GRCm39)	missense	probably damaging	0.99
R0139:Phldb2	UTSW	16	45,591,029 (GRCm39)	splice site	probably benign
R0312:Phldb2	UTSW	16	45,609,410 (GRCm39)	missense	probably damaging	1.00
R0379:Phldb2	UTSW	16	45,601,814 (GRCm39)	missense	probably damaging	1.00
R0535:Phldb2	UTSW	16	45,577,490 (GRCm39)	missense	probably damaging	1.00
R1387:Phldb2	UTSW	16	45,646,357 (GRCm39)	missense	possibly damaging	0.69
R1444:Phldb2	UTSW	16	45,577,616 (GRCm39)	splice site	probably benign
R1487:Phldb2	UTSW	16	45,609,387 (GRCm39)	missense	probably damaging	1.00
R1501:Phldb2	UTSW	16	45,598,146 (GRCm39)	missense	probably damaging	1.00
R1605:Phldb2	UTSW	16	45,591,142 (GRCm39)	splice site	probably benign
R1716:Phldb2	UTSW	16	45,595,413 (GRCm39)	missense	probably benign	0.01
R1732:Phldb2	UTSW	16	45,577,529 (GRCm39)	missense	probably damaging	1.00
R1779:Phldb2	UTSW	16	45,621,988 (GRCm39)	missense	probably damaging	1.00
R1824:Phldb2	UTSW	16	45,646,374 (GRCm39)	missense	probably benign	0.14
R2001:Phldb2	UTSW	16	45,594,558 (GRCm39)	missense	possibly damaging	0.66
R2066:Phldb2	UTSW	16	45,591,121 (GRCm39)	missense	probably damaging	1.00
R2122:Phldb2	UTSW	16	45,583,304 (GRCm39)	missense	probably damaging	0.99
R2448:Phldb2	UTSW	16	45,645,726 (GRCm39)	missense	probably damaging	1.00
R2932:Phldb2	UTSW	16	45,569,148 (GRCm39)	missense	possibly damaging	0.85
R3076:Phldb2	UTSW	16	45,645,373 (GRCm39)	missense	probably benign	0.00
R3078:Phldb2	UTSW	16	45,645,373 (GRCm39)	missense	probably benign	0.00
R3779:Phldb2	UTSW	16	45,569,118 (GRCm39)	missense	probably damaging	1.00
R3914:Phldb2	UTSW	16	45,577,526 (GRCm39)	missense	probably damaging	1.00
R4536:Phldb2	UTSW	16	45,591,044 (GRCm39)	missense	probably benign	0.04
R4568:Phldb2	UTSW	16	45,598,081 (GRCm39)	nonsense	probably null
R4798:Phldb2	UTSW	16	45,646,237 (GRCm39)	missense	probably damaging	1.00
R4853:Phldb2	UTSW	16	45,623,079 (GRCm39)	missense	probably damaging	0.99
R4906:Phldb2	UTSW	16	45,571,758 (GRCm39)	missense	probably damaging	1.00
R4984:Phldb2	UTSW	16	45,645,996 (GRCm39)	missense	probably damaging	1.00
R5078:Phldb2	UTSW	16	45,598,105 (GRCm39)	missense	possibly damaging	0.85
R5137:Phldb2	UTSW	16	45,628,621 (GRCm39)	missense	possibly damaging	0.85
R5237:Phldb2	UTSW	16	45,568,249 (GRCm39)	missense	probably damaging	0.99
R5410:Phldb2	UTSW	16	45,645,975 (GRCm39)	missense	possibly damaging	0.77
R5825:Phldb2	UTSW	16	45,583,460 (GRCm39)	missense	probably benign	0.11
R5874:Phldb2	UTSW	16	45,621,988 (GRCm39)	missense	probably damaging	1.00
R5907:Phldb2	UTSW	16	45,645,551 (GRCm39)	missense	probably damaging	1.00
R6332:Phldb2	UTSW	16	45,594,609 (GRCm39)	missense	probably benign
R6354:Phldb2	UTSW	16	45,645,477 (GRCm39)	missense	probably damaging	1.00
R6355:Phldb2	UTSW	16	45,645,701 (GRCm39)	missense	probably damaging	0.99
R6383:Phldb2	UTSW	16	45,569,113 (GRCm39)	missense	probably damaging	1.00
R6463:Phldb2	UTSW	16	45,595,356 (GRCm39)	missense	probably benign	0.37
R6513:Phldb2	UTSW	16	45,568,240 (GRCm39)	missense	possibly damaging	0.96
R6593:Phldb2	UTSW	16	45,645,790 (GRCm39)	nonsense	probably null
R6756:Phldb2	UTSW	16	45,628,683 (GRCm39)	missense	probably benign	0.02
R6810:Phldb2	UTSW	16	45,569,088 (GRCm39)	critical splice donor site	probably null
R6897:Phldb2	UTSW	16	45,598,138 (GRCm39)	missense	probably damaging	1.00
R7010:Phldb2	UTSW	16	45,571,868 (GRCm39)	missense	probably damaging	0.99
R7142:Phldb2	UTSW	16	45,577,539 (GRCm39)	nonsense	probably null
R7149:Phldb2	UTSW	16	45,571,895 (GRCm39)	nonsense	probably null
R7249:Phldb2	UTSW	16	45,621,977 (GRCm39)	missense	probably damaging	1.00
R7300:Phldb2	UTSW	16	45,645,925 (GRCm39)	missense	probably damaging	1.00
R7328:Phldb2	UTSW	16	45,578,572 (GRCm39)	critical splice acceptor site	probably null
R7515:Phldb2	UTSW	16	45,594,603 (GRCm39)	missense	possibly damaging	0.90
R7840:Phldb2	UTSW	16	45,571,727 (GRCm39)	missense	probably damaging	1.00
R7988:Phldb2	UTSW	16	45,645,934 (GRCm39)	missense	probably benign	0.03
R8159:Phldb2	UTSW	16	45,680,747 (GRCm39)	missense	possibly damaging	0.82
R8353:Phldb2	UTSW	16	45,645,385 (GRCm39)	missense	probably benign	0.00
R8453:Phldb2	UTSW	16	45,645,385 (GRCm39)	missense	probably benign	0.00
R8969:Phldb2	UTSW	16	45,592,496 (GRCm39)	critical splice donor site	probably null
R9058:Phldb2	UTSW	16	45,592,604 (GRCm39)	missense	possibly damaging	0.88
R9106:Phldb2	UTSW	16	45,680,757 (GRCm39)	missense	probably benign	0.05
R9278:Phldb2	UTSW	16	45,646,308 (GRCm39)	missense	probably damaging	0.99
R9324:Phldb2	UTSW	16	45,595,437 (GRCm39)	missense	probably damaging	0.99
R9563:Phldb2	UTSW	16	45,645,247 (GRCm39)	missense	possibly damaging	0.90
R9626:Phldb2	UTSW	16	45,592,547 (GRCm39)	missense	possibly damaging	0.93
R9712:Phldb2	UTSW	16	45,595,340 (GRCm39)	missense	probably benign	0.27
R9718:Phldb2	UTSW	16	45,601,756 (GRCm39)	missense	possibly damaging	0.67
RF008:Phldb2	UTSW	16	45,583,337 (GRCm39)	missense	probably damaging	1.00
Z1176:Phldb2	UTSW	16	45,773,871 (GRCm39)	unclassified	probably benign
Z1176:Phldb2	UTSW	16	45,646,190 (GRCm39)	missense	probably benign	0.04
Z1176:Phldb2	UTSW	16	45,646,189 (GRCm39)	missense	probably benign	0.43
Z1190:Phldb2	UTSW	16	45,645,697 (GRCm39)	missense	probably damaging	0.96

Posted On

2012-04-20