Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Phldb2'

569071

Institutional Source

Beutler Lab

Gene Symbol

Phldb2

Ensembl Gene

ENSMUSG00000033149

Gene Name

pleckstrin homology like domain, family B, member 2

Synonyms

LL5b, C820004H04Rik, LL5beta

MMRRC Submission

045421-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45566606-45773961 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 45578572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075672 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably null
Transcript: ENSMUST00000036355

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149

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 null
Transcript: ENSMUST00000076333

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149

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

probably null
Transcript: ENSMUST00000076333

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149

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

probably null
Transcript: ENSMUST00000076333

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149

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

probably null
Transcript: ENSMUST00000131003

SMART Domains

Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149

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

probably null
Transcript: ENSMUST00000134802

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Atxn7l1	T	C	12: 33,198,502 (GRCm39)		probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Inha	T	C	1: 75,486,760 (GRCm39)	Y352H	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ae2	T	C	7: 84,506,507 (GRCm39)	I312T	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Rdh19	T	C	10: 127,692,896 (GRCm39)	S188P	probably damaging	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Taf15	C	T	11: 83,375,658 (GRCm39)	T41M	possibly damaging	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	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
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
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
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'- GGGCGCCAATTCTTTAGCAC -3'
(R):5'- TTAGAGATGAGTTGATTAGCCCC -3'

Sequencing Primer
(F):5'- TGAGCAGCTCCCAAGGTCAC -3'
(R):5'- TGAGTTGATTAGCCCCCAAAAG -3'

Posted On

2019-09-13