Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Phldb2'

566944

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

045404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45566606-45773961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45645925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 174 (S174P)

Ref Sequence

ENSEMBL: ENSMUSP00000075672 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036355
AA Change: S174P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: S174P

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 damaging
Transcript: ENSMUST00000076333
AA Change: S174P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: S174P

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 damaging
Transcript: ENSMUST00000134802
AA Change: S219P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: S219P

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Adgrd1	T	C	5: 129,174,411 (GRCm39)		probably null	Het
Atr	T	C	9: 95,747,423 (GRCm39)	I235T	probably benign	Het
Bpifb5	A	G	2: 154,070,066 (GRCm39)	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,480,100 (GRCm39)	I420N	probably damaging	Het
Ccdc141	G	A	2: 76,845,038 (GRCm39)	T1343I	probably benign	Het
Cd59b	A	T	2: 103,914,795 (GRCm39)	K64N	possibly damaging	Het
Cd63	A	G	10: 128,748,034 (GRCm39)	N144S	probably benign	Het
Cip2a	A	G	16: 48,834,217 (GRCm39)	K631E	probably damaging	Het
Col4a4	C	T	1: 82,464,361 (GRCm39)	R989Q	unknown	Het
Cyp4a31	A	G	4: 115,427,468 (GRCm39)	T225A	probably benign	Het
Dnah1	T	G	14: 30,991,798 (GRCm39)	E3068A	probably benign	Het
Fpgt	C	T	3: 154,792,612 (GRCm39)	V472I	probably damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Homer3	T	C	8: 70,737,953 (GRCm39)	M1T	probably null	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Il2ra	A	G	2: 11,681,721 (GRCm39)	T109A	not run	Het
Itgb6	T	C	2: 60,435,650 (GRCm39)	D700G	probably benign	Het
Krt31	T	C	11: 99,938,612 (GRCm39)	E327G	probably damaging	Het
Large1	A	C	8: 73,564,224 (GRCm39)	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076 (GRCm39)	V81M	probably damaging	Het
Mstn	T	C	1: 53,103,239 (GRCm39)	S192P	probably benign	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or13a27	A	T	7: 139,925,268 (GRCm39)	N211K	probably damaging	Het
Or2n1c	A	C	17: 38,519,588 (GRCm39)	T151P	possibly damaging	Het
Or2y1c	C	T	11: 49,361,473 (GRCm39)	T165I	probably benign	Het
Or52i2	A	G	7: 102,319,417 (GRCm39)	S97G	probably benign	Het
Or7g17	T	C	9: 18,768,530 (GRCm39)	I194T	not run	Het
Or8k25	T	C	2: 86,244,330 (GRCm39)	E22G	probably null	Het
Pde4a	T	C	9: 21,117,618 (GRCm39)	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,697,374 (GRCm39)	I102T	probably damaging	Het
Pla2g4e	C	T	2: 120,021,680 (GRCm39)	V143I	probably damaging	Het
Pou4f2	C	T	8: 79,162,735 (GRCm39)		probably null	Het
Ppl	C	T	16: 4,920,235 (GRCm39)	V387M	possibly damaging	Het
Pramel43	A	T	5: 94,760,655 (GRCm39)	D340E	probably benign	Het
Rarg	A	T	15: 102,160,852 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,758,936 (GRCm39)	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,535,053 (GRCm39)	*375K	probably null	Het
Sim1	C	T	10: 50,785,614 (GRCm39)	H228Y	probably benign	Het
Spag4	A	T	2: 155,907,541 (GRCm39)	H87L	probably benign	Het
Ttc17	A	T	2: 94,205,479 (GRCm39)	L289Q	probably damaging	Het
Ubac2	T	C	14: 122,142,586 (GRCm39)	L28P	probably damaging	Het
Vmn2r31	C	A	7: 7,387,775 (GRCm39)	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,847,826 (GRCm39)	V2196A	probably benign	Het
Zswim5	A	T	4: 116,833,102 (GRCm39)	I612F	probably damaging	Het
Zzef1	T	A	11: 72,765,830 (GRCm39)	H1452Q	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
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'- AGACTGCTCCCTGAGTATTTCC -3'
(R):5'- AGTTCTGCAGCCTCTCTTGG -3'

Sequencing Primer
(F):5'- ACACTGACGTTTTCTGAGGC -3'
(R):5'- CTTGGCGGCTATCCTCTTGG -3'

Posted On

2019-06-26