Mutagenetix > Incidental Mutation

Incidental Mutation 'R1779:Phldb2'

197390

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

039810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45746243-45953598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45801625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 664 (D664V)

Ref Sequence

ENSEMBL: ENSMUSP00000123284 (fasta)

Gene Model

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

AlphaFold

Q8K1N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036355
AA Change: D619V

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

SMART Domains

Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: D619V

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: D619V

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

SMART Domains

Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: D619V

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

probably damaging
Transcript: ENSMUST00000134802
AA Change: D664V

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

SMART Domains

Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: D664V

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

Meta Mutation Damage Score

0.1612

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,406,514 (GRCm38)	L476F	probably damaging	Het
1700061G19Rik	T	A	17: 56,885,169 (GRCm38)	Y577*	probably null	Het
4930432E11Rik	A	T	7: 29,579,166 (GRCm38)		noncoding transcript	Het
A930011G23Rik	A	T	5: 99,223,038 (GRCm38)		probably benign	Het
Abcd3	A	G	3: 121,781,963 (GRCm38)	Y217H	probably damaging	Het
Abraxas1	A	T	5: 100,817,956 (GRCm38)		probably benign	Het
Acsbg1	T	C	9: 54,616,062 (GRCm38)	Y427C	probably damaging	Het
Adam10	T	A	9: 70,776,369 (GRCm38)		probably benign	Het
Adam24	G	A	8: 40,680,965 (GRCm38)	V491I	possibly damaging	Het
Adamts2	T	G	11: 50,756,697 (GRCm38)	V299G	probably damaging	Het
Adh7	A	G	3: 138,223,991 (GRCm38)	T143A	probably damaging	Het
Ahcyl1	A	G	3: 107,674,103 (GRCm38)	S81P	probably benign	Het
Arhgap20	C	A	9: 51,849,915 (GRCm38)	T986K	probably benign	Het
Atp13a5	A	T	16: 29,314,660 (GRCm38)	I391N	possibly damaging	Het
Atp6v0a1	C	A	11: 101,026,685 (GRCm38)	A143E	probably benign	Het
Calcrl	A	G	2: 84,351,285 (GRCm38)	I173T	probably damaging	Het
Casz1	A	G	4: 148,932,937 (GRCm38)	T228A	probably benign	Het
Cckar	A	G	5: 53,699,979 (GRCm38)	I292T	probably damaging	Het
Cfhr2	T	A	1: 139,858,645 (GRCm38)		probably null	Het
Chkb	T	C	15: 89,429,057 (GRCm38)	I109V	possibly damaging	Het
Clec2i	T	C	6: 128,888,106 (GRCm38)		probably null	Het
Clec4a4	T	A	6: 123,023,975 (GRCm38)	W216R	probably damaging	Het
Cntnap1	A	C	11: 101,186,511 (GRCm38)	I1000L	probably damaging	Het
Cp	C	A	3: 19,957,385 (GRCm38)	D34E	possibly damaging	Het
Cse1l	T	C	2: 166,940,124 (GRCm38)		probably null	Het
Dennd3	T	C	15: 73,522,508 (GRCm38)		probably null	Het
Dnah7a	A	G	1: 53,577,223 (GRCm38)	V1193A	probably benign	Het
Eaf2	A	G	16: 36,810,470 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,693,825 (GRCm38)	T405A	possibly damaging	Het
Fam117a	G	A	11: 95,378,953 (GRCm38)	V348M	probably damaging	Het
Fh1	T	C	1: 175,601,424 (GRCm38)	*167W	probably null	Het
Fmo9	T	A	1: 166,663,299 (GRCm38)	I486F	probably benign	Het
Gabbr1	T	A	17: 37,054,879 (GRCm38)	I150N	probably damaging	Het
Gfpt1	T	C	6: 87,077,197 (GRCm38)	V478A	possibly damaging	Het
Gm11639	T	A	11: 104,720,939 (GRCm38)	S536T	probably benign	Het
Gm2663	A	T	6: 40,997,960 (GRCm38)	V59E	probably damaging	Het
Gm4868	T	A	5: 125,848,112 (GRCm38)		noncoding transcript	Het
Heatr4	T	A	12: 83,980,160 (GRCm38)	T108S	probably benign	Het
Hells	G	T	19: 38,946,842 (GRCm38)	A319S	probably benign	Het
Helz2	T	A	2: 181,238,459 (GRCm38)	Q488L	possibly damaging	Het
Helz2	A	G	2: 181,234,987 (GRCm38)	V1238A	probably benign	Het
Hkdc1	A	G	10: 62,391,383 (GRCm38)	F765S	probably damaging	Het
Hspg2	T	A	4: 137,518,509 (GRCm38)	W938R	probably damaging	Het
Itpr2	G	A	6: 146,158,901 (GRCm38)	R2473*	probably null	Het
Kctd1	C	T	18: 15,061,782 (GRCm38)	V595I	probably benign	Het
Krt7	A	G	15: 101,423,409 (GRCm38)	Y369C	probably damaging	Het
Krt72	T	C	15: 101,780,929 (GRCm38)	T323A	probably benign	Het
Krt76	A	G	15: 101,892,687 (GRCm38)	L58P	unknown	Het
Liph	C	A	16: 21,968,050 (GRCm38)	R272L	probably benign	Het
Lrrc9	A	T	12: 72,455,998 (GRCm38)	K248*	probably null	Het
Mei4	T	A	9: 81,927,142 (GRCm38)	S93T	probably damaging	Het
Mgll	T	A	6: 88,813,948 (GRCm38)	Y183*	probably null	Het
Myo5b	A	G	18: 74,742,147 (GRCm38)	M1541V	probably benign	Het
Napg	A	G	18: 62,982,691 (GRCm38)	E66G	probably benign	Het
Npr3	T	C	15: 11,851,486 (GRCm38)	D406G	probably damaging	Het
Nr2c2	A	G	6: 92,159,243 (GRCm38)	T355A	possibly damaging	Het
Olfr1243	A	T	2: 89,527,645 (GRCm38)	I255K	probably benign	Het
Olfr1461	T	C	19: 13,165,040 (GRCm38)	Y9H	probably benign	Het
Olfr26	A	G	9: 38,855,550 (GRCm38)	M163V	possibly damaging	Het
Olfr618	A	T	7: 103,597,900 (GRCm38)	I195F	probably damaging	Het
Olfr624	A	G	7: 103,670,638 (GRCm38)	I131T	probably benign	Het
Olfr631	G	T	7: 103,929,461 (GRCm38)	V213L	probably benign	Het
Olfr71	G	A	4: 43,706,041 (GRCm38)	H176Y	probably damaging	Het
Orai2	T	C	5: 136,150,939 (GRCm38)	E80G	probably damaging	Het
Pcdhb14	T	A	18: 37,449,482 (GRCm38)	V547E	probably damaging	Het
Pcdhb15	T	C	18: 37,476,031 (GRCm38)	I772T	possibly damaging	Het
Pcnt	T	C	10: 76,408,796 (GRCm38)	Q1150R	probably damaging	Het
Pdcd6	A	G	13: 74,305,581 (GRCm38)	I146T	probably damaging	Het
Pik3ap1	A	T	19: 41,332,234 (GRCm38)	V182E	probably damaging	Het
Pip4k2a	A	G	2: 18,847,622 (GRCm38)	V283A	probably benign	Het
Pkdrej	A	G	15: 85,821,171 (GRCm38)	V188A	possibly damaging	Het
Pnpla6	T	C	8: 3,541,404 (GRCm38)	W1151R	probably damaging	Het
Ppp1r14c	A	G	10: 3,366,890 (GRCm38)	Y75C	probably damaging	Het
Prl2b1	C	T	13: 27,383,469 (GRCm38)	D224N	probably benign	Het
Ptgis	A	G	2: 167,214,858 (GRCm38)	S270P	probably benign	Het
Rgs11	C	A	17: 26,210,666 (GRCm38)	A446D	probably damaging	Het
Rims2	A	G	15: 39,681,702 (GRCm38)	T1531A	probably damaging	Het
Sbno1	A	T	5: 124,388,517 (GRCm38)		probably benign	Het
Scarb2	C	G	5: 92,448,557 (GRCm38)	M409I	probably benign	Het
Scube3	C	T	17: 28,168,379 (GRCm38)		probably benign	Het
Slc44a4	T	C	17: 34,921,925 (GRCm38)	I180T	probably damaging	Het
Slc9a2	T	C	1: 40,742,643 (GRCm38)	M344T	probably damaging	Het
Smc3	A	T	19: 53,639,369 (GRCm38)	T860S	probably benign	Het
Snrpa	A	G	7: 27,191,749 (GRCm38)	I99T	probably benign	Het
Sorcs1	A	G	19: 50,175,043 (GRCm38)		probably benign	Het
Sorl1	C	T	9: 41,991,482 (GRCm38)		probably null	Het
Suds3	T	C	5: 117,105,244 (GRCm38)	K143R	probably benign	Het
Supt20	A	T	3: 54,714,743 (GRCm38)	M424L	probably benign	Het
Tgtp2	T	C	11: 49,058,924 (GRCm38)	M274V	probably benign	Het
Tmem158	T	A	9: 123,259,909 (GRCm38)	M213L	probably benign	Het
Tnks	C	A	8: 34,857,518 (GRCm38)	R639L	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Trmt10c	A	C	16: 56,034,575 (GRCm38)	N232K	possibly damaging	Het
Trpm6	C	T	19: 18,856,217 (GRCm38)	R1587W	probably damaging	Het
Trrap	G	A	5: 144,828,590 (GRCm38)	V2539I	probably benign	Het
Tsg101	A	G	7: 46,907,087 (GRCm38)	S115P	probably benign	Het
Ttll13	G	T	7: 80,260,508 (GRCm38)	V800L	probably benign	Het
Vmn1r57	A	G	7: 5,220,577 (GRCm38)	T34A	possibly damaging	Het
Vmn2r118	T	A	17: 55,611,530 (GRCm38)	T121S	probably benign	Het
Wdr35	A	G	12: 8,985,772 (GRCm38)	I238M	possibly damaging	Het
Wisp2	G	A	2: 163,828,986 (GRCm38)	V138M	probably damaging	Het
Zfp81	T	A	17: 33,335,106 (GRCm38)	T245S	probably benign	Het
Zfyve26	G	T	12: 79,278,463 (GRCm38)	P824Q	probably damaging	Het

Other mutations in Phldb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Phldb2	APN	16	45,772,254 (GRCm38)	missense	probably damaging	1.00
IGL00485:Phldb2	APN	16	45,757,188 (GRCm38)	missense	possibly damaging	0.75
IGL00544:Phldb2	APN	16	45,825,311 (GRCm38)	missense	probably damaging	1.00
IGL00547:Phldb2	APN	16	45,825,535 (GRCm38)	missense	probably benign	0.00
IGL00835:Phldb2	APN	16	45,751,456 (GRCm38)	missense	probably damaging	1.00
IGL00987:Phldb2	APN	16	45,763,102 (GRCm38)	missense	possibly damaging	0.78
IGL01102:Phldb2	APN	16	45,825,060 (GRCm38)	missense	probably damaging	1.00
IGL01530:Phldb2	APN	16	45,802,729 (GRCm38)	missense	probably damaging	1.00
IGL01549:Phldb2	APN	16	45,774,318 (GRCm38)	missense	probably benign	0.00
IGL01712:Phldb2	APN	16	45,751,429 (GRCm38)	missense	probably damaging	1.00
IGL01755:Phldb2	APN	16	45,825,582 (GRCm38)	missense	probably damaging	0.96
IGL01823:Phldb2	APN	16	45,825,144 (GRCm38)	missense	probably damaging	0.97
IGL02353:Phldb2	APN	16	45,748,779 (GRCm38)	missense	probably damaging	1.00
IGL02360:Phldb2	APN	16	45,748,779 (GRCm38)	missense	probably damaging	1.00
IGL02716:Phldb2	APN	16	45,801,590 (GRCm38)	missense	probably damaging	0.99
R0139:Phldb2	UTSW	16	45,770,666 (GRCm38)	splice site	probably benign
R0312:Phldb2	UTSW	16	45,789,047 (GRCm38)	missense	probably damaging	1.00
R0379:Phldb2	UTSW	16	45,781,451 (GRCm38)	missense	probably damaging	1.00
R0535:Phldb2	UTSW	16	45,757,127 (GRCm38)	missense	probably damaging	1.00
R1387:Phldb2	UTSW	16	45,825,994 (GRCm38)	missense	possibly damaging	0.69
R1444:Phldb2	UTSW	16	45,757,253 (GRCm38)	splice site	probably benign
R1487:Phldb2	UTSW	16	45,789,024 (GRCm38)	missense	probably damaging	1.00
R1501:Phldb2	UTSW	16	45,777,783 (GRCm38)	missense	probably damaging	1.00
R1605:Phldb2	UTSW	16	45,770,779 (GRCm38)	splice site	probably benign
R1716:Phldb2	UTSW	16	45,775,050 (GRCm38)	missense	probably benign	0.01
R1732:Phldb2	UTSW	16	45,757,166 (GRCm38)	missense	probably damaging	1.00
R1824:Phldb2	UTSW	16	45,826,011 (GRCm38)	missense	probably benign	0.14
R2001:Phldb2	UTSW	16	45,774,195 (GRCm38)	missense	possibly damaging	0.66
R2066:Phldb2	UTSW	16	45,770,758 (GRCm38)	missense	probably damaging	1.00
R2122:Phldb2	UTSW	16	45,762,941 (GRCm38)	missense	probably damaging	0.99
R2448:Phldb2	UTSW	16	45,825,363 (GRCm38)	missense	probably damaging	1.00
R2932:Phldb2	UTSW	16	45,748,785 (GRCm38)	missense	possibly damaging	0.85
R3076:Phldb2	UTSW	16	45,825,010 (GRCm38)	missense	probably benign	0.00
R3078:Phldb2	UTSW	16	45,825,010 (GRCm38)	missense	probably benign	0.00
R3779:Phldb2	UTSW	16	45,748,755 (GRCm38)	missense	probably damaging	1.00
R3914:Phldb2	UTSW	16	45,757,163 (GRCm38)	missense	probably damaging	1.00
R4536:Phldb2	UTSW	16	45,770,681 (GRCm38)	missense	probably benign	0.04
R4568:Phldb2	UTSW	16	45,777,718 (GRCm38)	nonsense	probably null
R4798:Phldb2	UTSW	16	45,825,874 (GRCm38)	missense	probably damaging	1.00
R4853:Phldb2	UTSW	16	45,802,716 (GRCm38)	missense	probably damaging	0.99
R4906:Phldb2	UTSW	16	45,751,395 (GRCm38)	missense	probably damaging	1.00
R4984:Phldb2	UTSW	16	45,825,633 (GRCm38)	missense	probably damaging	1.00
R5078:Phldb2	UTSW	16	45,777,742 (GRCm38)	missense	possibly damaging	0.85
R5137:Phldb2	UTSW	16	45,808,258 (GRCm38)	missense	possibly damaging	0.85
R5237:Phldb2	UTSW	16	45,747,886 (GRCm38)	missense	probably damaging	0.99
R5410:Phldb2	UTSW	16	45,825,612 (GRCm38)	missense	possibly damaging	0.77
R5825:Phldb2	UTSW	16	45,763,097 (GRCm38)	missense	probably benign	0.11
R5874:Phldb2	UTSW	16	45,801,625 (GRCm38)	missense	probably damaging	1.00
R5907:Phldb2	UTSW	16	45,825,188 (GRCm38)	missense	probably damaging	1.00
R6332:Phldb2	UTSW	16	45,774,246 (GRCm38)	missense	probably benign
R6354:Phldb2	UTSW	16	45,825,114 (GRCm38)	missense	probably damaging	1.00
R6355:Phldb2	UTSW	16	45,825,338 (GRCm38)	missense	probably damaging	0.99
R6383:Phldb2	UTSW	16	45,748,750 (GRCm38)	missense	probably damaging	1.00
R6463:Phldb2	UTSW	16	45,774,993 (GRCm38)	missense	probably benign	0.37
R6513:Phldb2	UTSW	16	45,747,877 (GRCm38)	missense	possibly damaging	0.96
R6593:Phldb2	UTSW	16	45,825,427 (GRCm38)	nonsense	probably null
R6756:Phldb2	UTSW	16	45,808,320 (GRCm38)	missense	probably benign	0.02
R6810:Phldb2	UTSW	16	45,748,725 (GRCm38)	critical splice donor site	probably null
R6897:Phldb2	UTSW	16	45,777,775 (GRCm38)	missense	probably damaging	1.00
R7010:Phldb2	UTSW	16	45,751,505 (GRCm38)	missense	probably damaging	0.99
R7142:Phldb2	UTSW	16	45,757,176 (GRCm38)	nonsense	probably null
R7149:Phldb2	UTSW	16	45,751,532 (GRCm38)	nonsense	probably null
R7249:Phldb2	UTSW	16	45,801,614 (GRCm38)	missense	probably damaging	1.00
R7300:Phldb2	UTSW	16	45,825,562 (GRCm38)	missense	probably damaging	1.00
R7328:Phldb2	UTSW	16	45,758,209 (GRCm38)	critical splice acceptor site	probably null
R7515:Phldb2	UTSW	16	45,774,240 (GRCm38)	missense	possibly damaging	0.90
R7840:Phldb2	UTSW	16	45,751,364 (GRCm38)	missense	probably damaging	1.00
R7988:Phldb2	UTSW	16	45,825,571 (GRCm38)	missense	probably benign	0.03
R8159:Phldb2	UTSW	16	45,860,384 (GRCm38)	missense	possibly damaging	0.82
R8353:Phldb2	UTSW	16	45,825,022 (GRCm38)	missense	probably benign	0.00
R8453:Phldb2	UTSW	16	45,825,022 (GRCm38)	missense	probably benign	0.00
R8969:Phldb2	UTSW	16	45,772,133 (GRCm38)	critical splice donor site	probably null
R9058:Phldb2	UTSW	16	45,772,241 (GRCm38)	missense	possibly damaging	0.88
R9106:Phldb2	UTSW	16	45,860,394 (GRCm38)	missense	probably benign	0.05
R9278:Phldb2	UTSW	16	45,825,945 (GRCm38)	missense	probably damaging	0.99
R9324:Phldb2	UTSW	16	45,775,074 (GRCm38)	missense	probably damaging	0.99
R9563:Phldb2	UTSW	16	45,824,884 (GRCm38)	missense	possibly damaging	0.90
R9626:Phldb2	UTSW	16	45,772,184 (GRCm38)	missense	possibly damaging	0.93
R9712:Phldb2	UTSW	16	45,774,977 (GRCm38)	missense	probably benign	0.27
R9718:Phldb2	UTSW	16	45,781,393 (GRCm38)	missense	possibly damaging	0.67
RF008:Phldb2	UTSW	16	45,762,974 (GRCm38)	missense	probably damaging	1.00
Z1176:Phldb2	UTSW	16	45,953,508 (GRCm38)	unclassified	probably benign
Z1176:Phldb2	UTSW	16	45,825,827 (GRCm38)	missense	probably benign	0.04
Z1176:Phldb2	UTSW	16	45,825,826 (GRCm38)	missense	probably benign	0.43
Z1190:Phldb2	UTSW	16	45,825,334 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCAACCTGCAATGTACCAACCAGTG -3'
(R):5'- CCTTGGCTTTCTTAGGCAGGCATTC -3'

Sequencing Primer
(F):5'- GAGATACCTGGATTTCTCAGCATC -3'
(R):5'- CTTAGGCAGGCATTCGTAAGC -3'

Posted On

2014-05-23