Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Phldb2'

651620

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 #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45746243-45953598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45825571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 171 (T171P)

Ref Sequence

ENSEMBL: ENSMUSP00000075672 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably benign
Transcript: ENSMUST00000036355
AA Change: T171P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: T171P

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: T171P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: T171P

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: ENSMUST00000134802
AA Change: T216P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: T216P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly 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
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
R9712:Phldb2	UTSW	16	45774977	missense	probably benign	0.27
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'- TTGTGCCTGCTTAACCTGG -3'
(R):5'- AGCAAACAGTTCTGCGATGG -3'

Sequencing Primer
(F):5'- CTGCTTAACCTGGGCTGAAG -3'
(R):5'- CAAACAGTTCTGCGATGGAATTG -3'

Posted On

2020-09-15