Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00485:Phldb2'

3965

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 #

IGL00485

Quality Score

Status

Chromosome

Chromosomal Location

45566606-45773961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45577551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1117 (I1117F)

Ref Sequence

ENSEMBL: ENSMUSP00000123284 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably benign
Transcript: ENSMUST00000036355
AA Change: I1072F

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: I1072F

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: I1125F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: I1125F

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: I387F

SMART Domains

Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: I387F

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

possibly damaging
Transcript: ENSMUST00000134802
AA Change: I1117F

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: I1117F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	G	A	11: 97,383,497 (GRCm39)		probably benign	Het
Arhgef37	G	A	18: 61,656,942 (GRCm39)	T41I	probably damaging	Het
Brms1	A	C	19: 5,099,070 (GRCm39)		probably benign	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Col4a2	A	G	8: 11,489,012 (GRCm39)	M1133V	probably benign	Het
Ctps1	T	C	4: 120,410,141 (GRCm39)	Y314C	probably damaging	Het
Defa30	T	A	8: 21,625,467 (GRCm39)	M77K	probably benign	Het
Eif3a	T	C	19: 60,758,328 (GRCm39)	R817G	unknown	Het
Entrep1	G	A	19: 23,962,086 (GRCm39)	R306W	probably damaging	Het
Ftdc2	A	G	16: 58,455,854 (GRCm39)	Y140H	probably damaging	Het
Greb1l	A	G	18: 10,555,962 (GRCm39)	S1725G	possibly damaging	Het
Hmgxb4	T	C	8: 75,756,131 (GRCm39)	S545P	probably damaging	Het
Hrob	C	T	11: 102,146,783 (GRCm39)	S353F	possibly damaging	Het
Kif13b	A	G	14: 65,002,522 (GRCm39)	E1049G	possibly damaging	Het
Mug1	T	C	6: 121,864,375 (GRCm39)	V1424A	probably benign	Het
Nlrp2	A	G	7: 5,340,547 (GRCm39)	V89A	probably benign	Het
Osbpl11	T	G	16: 33,062,115 (GRCm39)	W741G	probably damaging	Het
Pam	A	G	1: 97,750,678 (GRCm39)	V914A	possibly damaging	Het
Pign	A	T	1: 105,525,448 (GRCm39)	L460*	probably null	Het
Pramel31	G	A	4: 144,090,012 (GRCm39)	V351I	probably damaging	Het
Prdm10	A	T	9: 31,238,842 (GRCm39)	I196F	possibly damaging	Het
Stk36	T	C	1: 74,673,244 (GRCm39)	S1044P	probably benign	Het
Trim43b	T	C	9: 88,973,695 (GRCm39)	T13A	probably benign	Het
Unc5b	T	C	10: 60,618,995 (GRCm39)	Y49C	possibly damaging	Het
Urb2	T	C	8: 124,755,433 (GRCm39)	I380T	probably damaging	Het
Zfyve27	T	A	19: 42,171,872 (GRCm39)	C229S	probably benign	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
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
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