Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Phldb2'

265308

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

040568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3078 (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 45645373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 403 (T403A)

Ref Sequence

ENSEMBL: ENSMUSP00000123284 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably benign
Transcript: ENSMUST00000036355
AA Change: T358A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: T358A

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: T358A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: T358A

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

noncoding transcript
Transcript: ENSMUST00000125433

Predicted Effect

probably benign
Transcript: ENSMUST00000134802
AA Change: T403A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: T403A

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

Meta Mutation Damage Score

0.0706

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,306,764 (GRCm39)	I1981V	probably benign	Het
Actr3b	A	G	5: 26,027,440 (GRCm39)	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Alg10b	T	C	15: 90,112,139 (GRCm39)	S328P	probably benign	Het
C5ar2	G	A	7: 15,971,349 (GRCm39)	R193C	probably damaging	Het
Cct8	A	G	16: 87,285,765 (GRCm39)	V231A	possibly damaging	Het
Clca4a	C	T	3: 144,674,014 (GRCm39)	M240I	probably damaging	Het
Cmya5	A	T	13: 93,185,435 (GRCm39)	I3520N	probably damaging	Het
Dock6	G	T	9: 21,757,050 (GRCm39)		probably benign	Het
Dynlrb1	T	A	2: 155,091,865 (GRCm39)	I99N	probably damaging	Het
Ebf4	G	A	2: 130,148,419 (GRCm39)	D77N	probably damaging	Het
Fbxw10	C	T	11: 62,758,339 (GRCm39)		probably benign	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gm5499	T	C	17: 87,386,314 (GRCm39)		noncoding transcript	Het
Gm9913	A	G	2: 125,348,459 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,786,991 (GRCm39)	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,182,889 (GRCm39)	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,453,124 (GRCm39)		probably null	Het
Insyn2a	A	G	7: 134,519,750 (GRCm39)	I260T	probably benign	Het
Iqca1l	G	C	5: 24,751,664 (GRCm39)	T528S	probably benign	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Med28	A	G	5: 45,679,820 (GRCm39)	T68A	possibly damaging	Het
Meis1	A	T	11: 18,961,254 (GRCm39)	N206K	probably benign	Het
Mfsd14a	T	C	3: 116,441,566 (GRCm39)		probably benign	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Mto1	A	G	9: 78,365,310 (GRCm39)	Y413C	probably damaging	Het
Myo7b	T	C	18: 32,100,237 (GRCm39)	D1599G	probably benign	Het
Myoz1	T	C	14: 20,703,685 (GRCm39)		probably benign	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182 (GRCm39)	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,227,186 (GRCm39)	C274G	probably damaging	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or5ac22	A	T	16: 59,135,089 (GRCm39)	M227K	probably benign	Het
Plaa	T	C	4: 94,458,042 (GRCm39)	I643V	probably benign	Het
Slc28a2b	T	C	2: 122,344,895 (GRCm39)	L167P	possibly damaging	Het
Stau1	T	C	2: 166,796,936 (GRCm39)	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922 (GRCm39)	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,042,053 (GRCm39)	I221V	probably benign	Het
Wdr93	T	C	7: 79,402,241 (GRCm39)	I180T	possibly damaging	Het
Whamm	G	C	7: 81,221,532 (GRCm39)	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,235,140 (GRCm39)	Y41*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CGGTGATAATCCATCAGGTCG -3'
(R):5'- AGCCTAGTGGATAGTGACAATTACC -3'

Sequencing Primer
(F):5'- TGATAATCCATCAGGTCGTCGCG -3'
(R):5'- CTTAACTTTTCTTCTCTAAGCTCAGG -3'

Posted On

2015-02-05