Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Phldb2'

730285

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45746243-45953598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45774977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 862 (L862F)

Ref Sequence

ENSEMBL: ENSMUSP00000075672 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably benign
Transcript: ENSMUST00000036355
AA Change: L862F

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: L862F

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: L862F

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: L862F

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 benign
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

possibly damaging
Transcript: ENSMUST00000134802
AA Change: L907F

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: L907F

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	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
R0379:Phldb2	UTSW	16	45781451	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
R8969:Phldb2	UTSW	16	45772133	critical splice donor site	probably null
R9058:Phldb2	UTSW	16	45772241	missense	possibly damaging	0.88
R9106:Phldb2	UTSW	16	45860394	missense	probably benign	0.05
R9278:Phldb2	UTSW	16	45825945	missense	probably damaging	0.99
R9324:Phldb2	UTSW	16	45775074	missense	probably damaging	0.99
R9563:Phldb2	UTSW	16	45824884	missense	possibly damaging	0.90
R9626:Phldb2	UTSW	16	45772184	missense	possibly damaging	0.93
R9718:Phldb2	UTSW	16	45781393	missense	possibly damaging	0.67
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
Z1190:Phldb2	UTSW	16	45825334	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTACCCGAGTCTGGTCTAATTC -3'
(R):5'- TTAATGAGACACTGAGTAGCGC -3'

Sequencing Primer
(F):5'- CCCGAGTCTGGTCTAATTCATAAAC -3'
(R):5'- GCTCAGCTAACTCATTGTACCAGG -3'

Posted On

2022-10-06