Mutagenetix > Incidental Mutations

Incidental Mutation 'R6813:Phldb1'

533958

Institutional Source

Beutler Lab

Gene Symbol

Phldb1

Ensembl Gene

ENSMUSG00000048537

Gene Name

pleckstrin homology like domain, family B, member 1

Synonyms

LL5A, D330037A14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44686304-44735198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44699568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 751 (S751R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034611] [ENSMUST00000123310] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000138356] [ENSMUST00000144251] [ENSMUST00000147495] [ENSMUST00000154723] [ENSMUST00000156918]

AlphaFold

Q6PDH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034611
AA Change: S1007R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: S1007R

Domain	Start	End	E-Value	Type
PDB:2EH0\|A	40	139	3e-10	PDB
Blast:FHA	63	110	6e-21	BLAST
low complexity region	181	192	N/A	INTRINSIC
low complexity region	252	273	N/A	INTRINSIC
low complexity region	296	316	N/A	INTRINSIC
internal_repeat_1	321	354	5.01e-5	PROSPERO
internal_repeat_1	401	449	5.01e-5	PROSPERO
low complexity region	459	477	N/A	INTRINSIC
low complexity region	590	617	N/A	INTRINSIC
low complexity region	694	707	N/A	INTRINSIC
coiled coil region	715	798	N/A	INTRINSIC
low complexity region	819	829	N/A	INTRINSIC
coiled coil region	865	904	N/A	INTRINSIC
low complexity region	943	961	N/A	INTRINSIC
low complexity region	976	997	N/A	INTRINSIC
low complexity region	1055	1069	N/A	INTRINSIC
low complexity region	1103	1111	N/A	INTRINSIC
coiled coil region	1150	1219	N/A	INTRINSIC
PH	1262	1366	1.31e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123123

Predicted Effect

probably benign
Transcript: ENSMUST00000123310
AA Change: S89R

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122374
Gene: ENSMUSG00000048537
AA Change: S89R

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	58	79	N/A	INTRINSIC
low complexity region	137	151	N/A	INTRINSIC
low complexity region	185	193	N/A	INTRINSIC
coiled coil region	232	259	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128326
AA Change: S452R

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: S452R

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	187	200	N/A	INTRINSIC
coiled coil region	207	290	N/A	INTRINSIC
low complexity region	312	322	N/A	INTRINSIC
coiled coil region	357	396	N/A	INTRINSIC
low complexity region	422	443	N/A	INTRINSIC
low complexity region	493	506	N/A	INTRINSIC
low complexity region	516	530	N/A	INTRINSIC
low complexity region	564	572	N/A	INTRINSIC
coiled coil region	610	679	N/A	INTRINSIC
PH	723	827	1.31e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134465
AA Change: S960R

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: S960R

Domain	Start	End	E-Value	Type
PDB:2EH0\|A	40	139	3e-10	PDB
Blast:FHA	63	110	8e-21	BLAST
low complexity region	181	192	N/A	INTRINSIC
low complexity region	252	273	N/A	INTRINSIC
low complexity region	296	316	N/A	INTRINSIC
internal_repeat_1	321	354	6.75e-5	PROSPERO
internal_repeat_1	401	449	6.75e-5	PROSPERO
low complexity region	459	477	N/A	INTRINSIC
low complexity region	590	617	N/A	INTRINSIC
low complexity region	694	707	N/A	INTRINSIC
coiled coil region	715	798	N/A	INTRINSIC
low complexity region	819	829	N/A	INTRINSIC
coiled coil region	865	904	N/A	INTRINSIC
low complexity region	929	950	N/A	INTRINSIC
low complexity region	1008	1022	N/A	INTRINSIC
low complexity region	1056	1064	N/A	INTRINSIC
coiled coil region	1103	1172	N/A	INTRINSIC
PH	1215	1319	1.31e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135436
AA Change: S131R

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537
AA Change: S131R

Domain	Start	End	E-Value	Type
low complexity region	67	85	N/A	INTRINSIC
low complexity region	100	121	N/A	INTRINSIC
low complexity region	179	193	N/A	INTRINSIC
low complexity region	227	235	N/A	INTRINSIC
coiled coil region	274	343	N/A	INTRINSIC
PH	386	490	1.31e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000138356
AA Change: S1063R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: S1063R

Domain	Start	End	E-Value	Type
PDB:2EH0\|A	40	139	4e-10	PDB
Blast:FHA	63	110	6e-21	BLAST
low complexity region	181	192	N/A	INTRINSIC
low complexity region	252	273	N/A	INTRINSIC
low complexity region	296	316	N/A	INTRINSIC
internal_repeat_1	321	354	4.93e-5	PROSPERO
internal_repeat_1	401	449	4.93e-5	PROSPERO
low complexity region	459	477	N/A	INTRINSIC
low complexity region	590	617	N/A	INTRINSIC
low complexity region	694	707	N/A	INTRINSIC
coiled coil region	715	798	N/A	INTRINSIC
low complexity region	819	829	N/A	INTRINSIC
coiled coil region	865	904	N/A	INTRINSIC
low complexity region	931	948	N/A	INTRINSIC
low complexity region	999	1017	N/A	INTRINSIC
low complexity region	1032	1053	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC
low complexity region	1159	1167	N/A	INTRINSIC
coiled coil region	1206	1286	N/A	INTRINSIC
PH	1329	1444	6.01e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144251
AA Change: S320R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
AA Change: S320R

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
coiled coil region	32	115	N/A	INTRINSIC
coiled coil region	146	174	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
coiled coil region	225	264	N/A	INTRINSIC
low complexity region	289	310	N/A	INTRINSIC
low complexity region	368	382	N/A	INTRINSIC
low complexity region	416	424	N/A	INTRINSIC
coiled coil region	463	532	N/A	INTRINSIC
PH	575	679	1.31e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147495
AA Change: S1007R

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: S1007R

Domain	Start	End	E-Value	Type
PDB:2EH0\|A	40	139	4e-10	PDB
Blast:FHA	63	110	6e-21	BLAST
low complexity region	181	192	N/A	INTRINSIC
low complexity region	252	273	N/A	INTRINSIC
low complexity region	296	316	N/A	INTRINSIC
internal_repeat_1	321	354	5e-5	PROSPERO
internal_repeat_1	401	449	5e-5	PROSPERO
low complexity region	459	477	N/A	INTRINSIC
low complexity region	590	617	N/A	INTRINSIC
low complexity region	694	707	N/A	INTRINSIC
coiled coil region	715	798	N/A	INTRINSIC
low complexity region	819	829	N/A	INTRINSIC
coiled coil region	865	904	N/A	INTRINSIC
low complexity region	943	961	N/A	INTRINSIC
low complexity region	976	997	N/A	INTRINSIC
low complexity region	1055	1069	N/A	INTRINSIC
low complexity region	1103	1111	N/A	INTRINSIC
coiled coil region	1150	1219	N/A	INTRINSIC
PH	1262	1377	6.01e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000148344
AA Change: S751R

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

SMART Domains

Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: S751R

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	41	61	N/A	INTRINSIC
internal_repeat_1	66	99	6.7e-6	PROSPERO
internal_repeat_1	146	194	6.7e-6	PROSPERO
low complexity region	204	222	N/A	INTRINSIC
low complexity region	335	362	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
coiled coil region	459	542	N/A	INTRINSIC
low complexity region	564	574	N/A	INTRINSIC
coiled coil region	609	648	N/A	INTRINSIC
low complexity region	688	706	N/A	INTRINSIC
low complexity region	721	742	N/A	INTRINSIC
low complexity region	792	805	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
low complexity region	863	871	N/A	INTRINSIC
coiled coil region	909	978	N/A	INTRINSIC
PH	1022	1126	1.31e-17	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000154723
AA Change: S260R

SMART Domains

Protein: ENSMUSP00000116987
Gene: ENSMUSG00000048537
AA Change: S260R

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
coiled coil region	118	157	N/A	INTRINSIC
low complexity region	197	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156918
AA Change: S277R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537
AA Change: S277R

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
coiled coil region	32	115	N/A	INTRINSIC
low complexity region	136	146	N/A	INTRINSIC
coiled coil region	182	221	N/A	INTRINSIC
low complexity region	246	267	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
low complexity region	373	381	N/A	INTRINSIC
coiled coil region	420	489	N/A	INTRINSIC
PH	532	636	1.31e-17	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,282	N2337K	probably benign	Het
Adgrb2	C	A	4: 130,009,491	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,197,521	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,330,593	M164K	probably benign	Het
Asb13	G	T	13: 3,645,029	V166F	probably damaging	Het
Atm	T	G	9: 53,497,235	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,367,124	I626T	probably damaging	Het
Brsk2	A	G	7: 142,002,477	I649V	probably benign	Het
Ccdc25	T	A	14: 65,856,433	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,327,615	V231A	probably damaging	Het
Clstn3	T	A	6: 124,436,935	M767L	probably benign	Het
Col6a6	C	T	9: 105,783,941	R323K	probably benign	Het
Creld1	A	G	6: 113,489,569	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,112,734	D254E	probably benign	Het
Dab2ip	C	T	2: 35,730,473	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,520,957	S98R	possibly damaging	Het
Disp3	G	A	4: 148,259,930	P505L	probably benign	Het
Dlec1	A	T	9: 119,112,102	Q240L	probably benign	Het
Edil3	T	A	13: 89,289,456	I392N	probably damaging	Het
Epha10	T	A	4: 124,902,693	S398R		Het
Ephb1	A	G	9: 102,010,048	I464T	possibly damaging	Het
Eps15	T	A	4: 109,280,402		probably null	Het
Fam111a	T	A	19: 12,587,342	C152S	probably damaging	Het
Flt3	T	C	5: 147,354,843	E599G	probably damaging	Het
Frmd3	T	C	4: 74,159,245	S259P	probably benign	Het
Gm15922	T	C	7: 3,736,003	H535R	probably benign	Het
Gm30302	T	A	13: 49,787,396	R279S	probably benign	Het
Hsfy2	A	G	1: 56,636,302	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,645,693	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,292,374	D818E	probably damaging	Het
Il4i1	A	G	7: 44,839,812	T334A	probably benign	Het
Irs2	G	A	8: 11,004,659	Q1258*	probably null	Het
Lsm1	T	G	8: 25,793,693	H44Q	probably benign	Het
Mgam	A	T	6: 40,750,165	M1257L	probably damaging	Het
Myc	T	C	15: 61,988,152	S225P	probably damaging	Het
Myh1	T	C	11: 67,220,460	V1575A	probably benign	Het
Myo9b	A	G	8: 71,323,305	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,696,192	D157V	probably damaging	Het
Olfr314	G	T	11: 58,786,646	Q137H	probably benign	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr877	A	C	9: 37,855,514	E232A	possibly damaging	Het
Olfr883	T	C	9: 38,025,833	V9A	probably damaging	Het
Olfr980	T	A	9: 40,006,457	H164L	probably benign	Het
Pccb	A	G	9: 101,023,215	V117A	probably damaging	Het
Pdp2	C	T	8: 104,594,499	H327Y	probably damaging	Het
Pdzph1	G	T	17: 58,974,436	Q284K	probably benign	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Ppp1r1b	T	A	11: 98,349,176		probably null	Het
Ppp1r3a	A	G	6: 14,719,571	V448A	probably benign	Het
Pvrig	A	T	5: 138,342,050	T28S	probably benign	Het
Rasgrf1	G	A	9: 90,010,484		probably null	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,981,811	D221E	probably benign	Het
Tmem30c	A	G	16: 57,281,259		probably null	Het
Tmem33	T	C	5: 67,264,459		probably null	Het
Ttc29	A	T	8: 78,333,620	T390S	probably benign	Het
Vamp5	G	A	6: 72,380,441		probably benign	Het
Vmn2r81	T	A	10: 79,268,605	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,581,854	H119R	probably benign	Het
Wdr3	G	A	3: 100,138,725	R931*	probably null	Het
Wdr78	T	C	4: 103,048,326	K753E	probably benign	Het
Wtap	A	T	17: 12,967,510	N383K	probably damaging	Het
Zfp808	T	C	13: 62,173,035	Y693H	probably damaging	Het

Other mutations in Phldb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Phldb1	APN	9	44711146	critical splice donor site	probably null
IGL01089:Phldb1	APN	9	44707887	nonsense	probably null
IGL01374:Phldb1	APN	9	44696167	missense	probably damaging	0.98
IGL01654:Phldb1	APN	9	44718357	splice site	probably null
IGL02148:Phldb1	APN	9	44696072	missense	probably damaging	0.99
IGL02408:Phldb1	APN	9	44715906	missense	possibly damaging	0.50
IGL02429:Phldb1	APN	9	44700950	missense	probably damaging	1.00
IGL02440:Phldb1	APN	9	44715403	missense	probably damaging	0.99
IGL02457:Phldb1	APN	9	44716474	missense	probably benign	0.00
IGL02471:Phldb1	APN	9	44711233	missense	probably damaging	1.00
IGL02506:Phldb1	APN	9	44710926	missense	probably benign	0.00
IGL03335:Phldb1	APN	9	44728069	missense	possibly damaging	0.95
PIT4515001:Phldb1	UTSW	9	44715960	missense	probably benign	0.00
R0070:Phldb1	UTSW	9	44707904	missense	probably damaging	1.00
R0117:Phldb1	UTSW	9	44711706	start codon destroyed	probably null
R0344:Phldb1	UTSW	9	44701667	missense	probably benign	0.14
R0364:Phldb1	UTSW	9	44699335	splice site	probably benign
R0622:Phldb1	UTSW	9	44715852	missense	probably damaging	1.00
R0737:Phldb1	UTSW	9	44699636	missense	possibly damaging	0.92
R1449:Phldb1	UTSW	9	44716633	missense	probably benign	0.17
R1498:Phldb1	UTSW	9	44701618	missense	possibly damaging	0.70
R1633:Phldb1	UTSW	9	44718322	missense	probably damaging	1.00
R1647:Phldb1	UTSW	9	44715433	missense	probably damaging	1.00
R1692:Phldb1	UTSW	9	44715420	missense	probably damaging	1.00
R1749:Phldb1	UTSW	9	44715748	missense	probably damaging	1.00
R1797:Phldb1	UTSW	9	44716545	missense	probably damaging	0.99
R2012:Phldb1	UTSW	9	44728036	missense	possibly damaging	0.67
R2078:Phldb1	UTSW	9	44707979	missense	probably damaging	1.00
R2208:Phldb1	UTSW	9	44696131	missense	probably damaging	1.00
R2567:Phldb1	UTSW	9	44726025	missense	probably damaging	0.99
R2696:Phldb1	UTSW	9	44718288	missense	probably damaging	1.00
R3705:Phldb1	UTSW	9	44694394	missense	probably damaging	0.97
R4110:Phldb1	UTSW	9	44715831	missense	possibly damaging	0.88
R4772:Phldb1	UTSW	9	44711027	missense	probably damaging	1.00
R4857:Phldb1	UTSW	9	44696092	missense	probably damaging	0.99
R5148:Phldb1	UTSW	9	44704158	missense	probably benign	0.04
R5651:Phldb1	UTSW	9	44711903	missense	probably damaging	1.00
R5666:Phldb1	UTSW	9	44715781	missense	probably damaging	0.97
R5670:Phldb1	UTSW	9	44715781	missense	probably damaging	0.97
R5914:Phldb1	UTSW	9	44711651	missense	probably damaging	0.97
R6232:Phldb1	UTSW	9	44696117	missense	probably damaging	1.00
R6257:Phldb1	UTSW	9	44696140	missense	probably damaging	0.99
R6413:Phldb1	UTSW	9	44696143	missense	probably damaging	1.00
R6418:Phldb1	UTSW	9	44711900	missense	probably damaging	1.00
R6845:Phldb1	UTSW	9	44716062	missense	probably damaging	1.00
R7009:Phldb1	UTSW	9	44694408	missense	probably damaging	1.00
R7042:Phldb1	UTSW	9	44694424	missense	probably damaging	1.00
R7062:Phldb1	UTSW	9	44696135	missense	probably damaging	0.99
R7077:Phldb1	UTSW	9	44711904	missense	possibly damaging	0.62
R7307:Phldb1	UTSW	9	44694047	missense	possibly damaging	0.62
R7995:Phldb1	UTSW	9	44715372	missense	probably damaging	1.00
R8108:Phldb1	UTSW	9	44711161	missense	probably damaging	1.00
R8433:Phldb1	UTSW	9	44716462	missense	probably damaging	1.00
R9151:Phldb1	UTSW	9	44708443	missense	probably null	0.01
R9366:Phldb1	UTSW	9	44711249	missense	possibly damaging	0.93
R9378:Phldb1	UTSW	9	44704128	missense	probably benign	0.01
RF020:Phldb1	UTSW	9	44697946	missense	probably damaging	1.00
X0020:Phldb1	UTSW	9	44687677	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAATGTCCTGCAGTGTGG -3'
(R):5'- TTGGATCACAGCTGGGTTAG -3'

Sequencing Primer
(F):5'- CAGTGTGGCTGCCAGGTTG -3'
(R):5'- TGTGACATGGCAGCCAGTG -3'

Posted On

2018-09-12