Mutagenetix > Incidental Mutation

Incidental Mutation 'R3779:Phldb2'

271981

Institutional Source

Beutler Lab

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 #

R3779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45566606-45773961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45569118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1247 (Y1247C)

Ref Sequence

ENSEMBL: ENSMUSP00000075672 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036355
AA Change: Y1194C

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

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: Y1194C

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: Y1247C

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

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: Y1247C

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: Y509C

SMART Domains

Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: Y509C

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

Meta Mutation Damage Score

0.3986

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,273 (GRCm39)	C73R	probably damaging	Het
Acot10	A	G	15: 20,665,628 (GRCm39)	V371A	probably damaging	Het
Ambn	C	A	5: 88,613,201 (GRCm39)		probably benign	Het
Ankrd34a	T	C	3: 96,506,247 (GRCm39)	F484L	possibly damaging	Het
Bcl11a	A	G	11: 24,114,568 (GRCm39)	K637R	probably damaging	Het
Cenpe	T	C	3: 134,962,337 (GRCm39)	S1968P	possibly damaging	Het
Cfap61	T	C	2: 145,792,714 (GRCm39)	I52T	probably damaging	Het
Cit	A	T	5: 115,997,400 (GRCm39)	M128L	probably benign	Het
Cnga1	G	T	5: 72,762,126 (GRCm39)	L463I	probably damaging	Het
Dnah11	C	T	12: 118,094,448 (GRCm39)		probably benign	Het
Elovl4	ACT	A	9: 83,667,201 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,839,515 (GRCm39)	I1853T	unknown	Het
Flg2	C	T	3: 93,109,730 (GRCm39)	S586L	unknown	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm21886	G	T	18: 80,132,649 (GRCm39)	Q170K	possibly damaging	Het
Gm5819	A	G	18: 8,694,429 (GRCm39)	E118G	probably damaging	Het
Gm9376	T	C	14: 118,504,727 (GRCm39)	V53A	probably benign	Het
H2-T3	T	C	17: 36,500,574 (GRCm39)	T90A	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmgcs2	C	T	3: 98,206,428 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Jak1	G	A	4: 101,013,687 (GRCm39)	H1014Y	probably benign	Het
Klrb1c	T	C	6: 128,757,306 (GRCm39)	D253G	probably damaging	Het
Lpin1	G	A	12: 16,614,569 (GRCm39)	T404M	probably damaging	Het
Map3k9	A	T	12: 81,790,565 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,039,926 (GRCm39)		probably benign	Het
Myl12a	G	T	17: 71,301,631 (GRCm39)	H165Q	possibly damaging	Het
Or6c38	A	G	10: 128,929,165 (GRCm39)	F226S	possibly damaging	Het
Pdgfrb	T	A	18: 61,205,738 (GRCm39)	S575T	probably damaging	Het
Pinlyp	T	A	7: 24,241,260 (GRCm39)	T181S	probably benign	Het
Pkn2	A	G	3: 142,499,741 (GRCm39)	V928A	possibly damaging	Het
Skint5	C	T	4: 113,636,237 (GRCm39)		probably benign	Het
Slc24a1	A	G	9: 64,855,579 (GRCm39)	Y443H	unknown	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Svil	A	G	18: 5,090,855 (GRCm39)	N915S	probably damaging	Het
Syncrip	A	C	9: 88,358,992 (GRCm39)	D172E	probably damaging	Het
Tex26	T	C	5: 149,369,316 (GRCm39)	I48T	probably damaging	Het
Trpm6	A	C	19: 18,853,403 (GRCm39)	I1808L	possibly damaging	Het
Uba2	T	C	7: 33,854,071 (GRCm39)		probably null	Het
Vwa8	T	A	14: 79,339,762 (GRCm39)		probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Wrn	T	A	8: 33,731,048 (GRCm39)	R1095W	probably damaging	Het
Zfp808	T	A	13: 62,319,717 (GRCm39)	N315K	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
IGL00547:Phldb2	APN	16	45,645,898 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCTCTAAGTCGCTTACAACTC -3'
(R):5'- TTAGCCCTAGGTCATCTGAGG -3'

Sequencing Primer
(F):5'- CTAGCATTTATCCAGGCAGAGCTG -3'
(R):5'- CTGTCTTTGCAGACAAGC -3'

Posted On

2015-03-25