Mutagenetix > Incidental Mutation

Incidental Mutation 'R9126:Phldb3'

693247

Institutional Source

Beutler Lab

Gene Symbol

Phldb3

Ensembl Gene

ENSMUSG00000074277

Gene Name

pleckstrin homology like domain, family B, member 3

Synonyms

Gm10102, EG232970

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R9126 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24310188-24328722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24326726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 585 (V585I)

Ref Sequence

ENSEMBL: ENSMUSP00000073047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073325] [ENSMUST00000206422]

AlphaFold

E9QAF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000073325
AA Change: V585I

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

SMART Domains

Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: V585I

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
low complexity region	61	74	N/A	INTRINSIC
coiled coil region	111	302	N/A	INTRINSIC
low complexity region	364	374	N/A	INTRINSIC
Blast:PH	389	447	2e-29	BLAST
Blast:PH	457	488	4e-6	BLAST
low complexity region	490	514	N/A	INTRINSIC
PH	541	645	1.54e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206422
AA Change: V585I

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	G	T	3: 98,068,307 (GRCm39)	V47L	probably benign	Het
Atm	T	C	9: 53,370,134 (GRCm39)	K2323R	probably benign	Het
Bbx	A	G	16: 50,020,813 (GRCm39)	L865P	probably damaging	Het
C2cd3	T	A	7: 100,081,430 (GRCm39)	I1024N		Het
Cacna1e	A	T	1: 154,343,510 (GRCm39)	C1161S	probably benign	Het
Caskin2	A	T	11: 115,702,730 (GRCm39)	V26E	possibly damaging	Het
Ccnb3	T	G	X: 6,874,413 (GRCm39)	D722A	probably damaging	Het
Cep135	C	A	5: 76,781,550 (GRCm39)	Q846K	probably benign	Het
Cfap44	A	T	16: 44,295,619 (GRCm39)	D1639V	possibly damaging	Het
Cfh	G	T	1: 140,014,111 (GRCm39)	R1238S	probably damaging	Het
Dctn1	A	T	6: 83,169,835 (GRCm39)	D712V	probably damaging	Het
Ddx21	T	C	10: 62,424,479 (GRCm39)	D574G	probably damaging	Het
Dele1	A	G	18: 38,384,210 (GRCm39)	T35A	probably benign	Het
Dipk1b	A	G	2: 26,525,989 (GRCm39)	T308A	probably benign	Het
Dlgap5	A	G	14: 47,638,989 (GRCm39)	I443T	probably damaging	Het
Dusp7	G	A	9: 106,250,966 (GRCm39)	V364I		Het
Entpd1	G	T	19: 40,714,608 (GRCm39)	R268L	possibly damaging	Het
Fermt3	C	T	19: 6,979,745 (GRCm39)	A463T	probably benign	Het
Frat2	T	C	19: 41,836,106 (GRCm39)	D82G	probably damaging	Het
Git1	T	A	11: 77,390,380 (GRCm39)	I75N	probably damaging	Het
Gpr171	T	A	3: 59,005,488 (GRCm39)	I96F	probably damaging	Het
Gzmb	G	T	14: 56,497,845 (GRCm39)	R132S	probably benign	Het
Hecw1	C	T	13: 14,546,608 (GRCm39)	R132H	probably damaging	Het
Hey1	T	G	3: 8,729,651 (GRCm39)	S269R	probably benign	Het
Hgf	T	A	5: 16,765,979 (GRCm39)	N38K	possibly damaging	Het
Lag3	T	C	6: 124,881,809 (GRCm39)	R467G	probably damaging	Het
Lama3	A	T	18: 12,583,527 (GRCm39)	H705L	probably damaging	Het
Lce3f	T	G	3: 92,900,327 (GRCm39)	S49R	unknown	Het
Lrrc49	T	C	9: 60,578,594 (GRCm39)	D250G	probably damaging	Het
Lzts3	T	C	2: 130,477,248 (GRCm39)	K400R	possibly damaging	Het
Macc1	T	C	12: 119,409,711 (GRCm39)	S160P	probably benign	Het
Macf1	T	C	4: 123,276,193 (GRCm39)	T6155A	possibly damaging	Het
Mboat4	C	T	8: 34,582,348 (GRCm39)	T34I	probably benign	Het
Nav3	T	A	10: 109,541,524 (GRCm39)	Q1913L	probably benign	Het
Notch4	T	C	17: 34,800,080 (GRCm39)	S1014P	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Or2h1b	T	C	17: 37,462,123 (GRCm39)	T247A	possibly damaging	Het
Or52z1	T	G	7: 103,437,002 (GRCm39)	I161L	probably benign	Het
Orc2	A	C	1: 58,515,628 (GRCm39)	H293Q	probably benign	Het
Otoa	A	G	7: 120,693,845 (GRCm39)	Y75C	probably damaging	Het
Pate2	T	A	9: 35,581,908 (GRCm39)		probably null	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pou2f1	A	T	1: 165,722,603 (GRCm39)	N443K	unknown	Het
Prkci	T	A	3: 31,072,793 (GRCm39)	F66I	probably damaging	Het
Ptprz1	C	T	6: 23,002,334 (GRCm39)	Q1475*	probably null	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Reln	T	C	5: 22,160,194 (GRCm39)	D2125G	probably damaging	Het
Rp1	A	T	1: 4,417,136 (GRCm39)	D1325E	probably damaging	Het
Rpl36a-ps1	A	T	14: 99,231,694 (GRCm39)	C15S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,314,744 (GRCm39)	I1658T	probably damaging	Het
Serinc1	C	T	10: 57,395,577 (GRCm39)	G370S	probably benign	Het
Spef1	G	T	2: 131,013,829 (GRCm39)	T197K	probably damaging	Het
Spmap2l	A	G	5: 77,164,453 (GRCm39)	Y152C	probably damaging	Het
Sptan1	G	A	2: 29,920,597 (GRCm39)	V2363I	probably damaging	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Star	T	C	8: 26,302,832 (GRCm39)	V258A	probably benign	Het
Sympk	T	C	7: 18,778,873 (GRCm39)	I588T	possibly damaging	Het
Tas2r136	T	C	6: 132,754,584 (GRCm39)	N181S	probably damaging	Het
Tbc1d4	A	T	14: 101,724,952 (GRCm39)	V555E	probably benign	Het
Topaz1	G	A	9: 122,625,228 (GRCm39)	V1438I	probably benign	Het
Trmt112	T	A	19: 6,887,786 (GRCm39)	M45K		Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ulk4	G	T	9: 121,090,988 (GRCm39)	P238Q	probably damaging	Het
Unc5a	T	C	13: 55,145,774 (GRCm39)	L312P	possibly damaging	Het
Urb1	T	C	16: 90,566,290 (GRCm39)	D1499G	possibly damaging	Het
Ushbp1	A	G	8: 71,843,653 (GRCm39)	S262P	probably damaging	Het
Vmn1r173	G	A	7: 23,402,008 (GRCm39)	R81K	probably benign	Het
Vmn2r5	G	A	3: 64,399,159 (GRCm39)	P607S	probably benign	Het
Vtn	G	T	11: 78,391,256 (GRCm39)	G223V	probably damaging	Het
Zfhx4	T	C	3: 5,394,589 (GRCm39)	V1061A	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp616	T	A	11: 73,976,280 (GRCm39)	C850S	probably damaging	Het

Other mutations in Phldb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Phldb3	APN	7	24,328,295 (GRCm39)	missense	probably damaging	1.00
IGL01683:Phldb3	APN	7	24,318,862 (GRCm39)	missense	possibly damaging	0.71
IGL01732:Phldb3	APN	7	24,326,751 (GRCm39)	missense	probably damaging	1.00
IGL01765:Phldb3	APN	7	24,316,800 (GRCm39)	missense	possibly damaging	0.55
IGL03103:Phldb3	APN	7	24,323,601 (GRCm39)	missense	possibly damaging	0.71
FR4548:Phldb3	UTSW	7	24,328,403 (GRCm39)	makesense	probably null
R0052:Phldb3	UTSW	7	24,312,004 (GRCm39)	missense	probably benign	0.01
R0230:Phldb3	UTSW	7	24,312,004 (GRCm39)	missense	probably benign	0.01
R0234:Phldb3	UTSW	7	24,312,004 (GRCm39)	missense	probably benign	0.01
R0655:Phldb3	UTSW	7	24,323,797 (GRCm39)	missense	probably benign	0.07
R1731:Phldb3	UTSW	7	24,318,660 (GRCm39)	missense	probably benign	0.10
R1935:Phldb3	UTSW	7	24,316,832 (GRCm39)	missense	probably benign	0.01
R1936:Phldb3	UTSW	7	24,316,832 (GRCm39)	missense	probably benign	0.01
R2155:Phldb3	UTSW	7	24,312,070 (GRCm39)	missense	probably damaging	1.00
R2410:Phldb3	UTSW	7	24,323,719 (GRCm39)	missense	probably benign	0.01
R4249:Phldb3	UTSW	7	24,326,745 (GRCm39)	missense	probably damaging	1.00
R4501:Phldb3	UTSW	7	24,311,986 (GRCm39)	missense	probably benign
R4665:Phldb3	UTSW	7	24,310,852 (GRCm39)	missense	probably benign	0.00
R4916:Phldb3	UTSW	7	24,323,716 (GRCm39)	missense	probably benign
R4970:Phldb3	UTSW	7	24,324,110 (GRCm39)	missense	possibly damaging	0.73
R5017:Phldb3	UTSW	7	24,319,521 (GRCm39)	missense	probably damaging	1.00
R5112:Phldb3	UTSW	7	24,324,110 (GRCm39)	missense	possibly damaging	0.73
R5864:Phldb3	UTSW	7	24,323,571 (GRCm39)	missense	possibly damaging	0.55
R5881:Phldb3	UTSW	7	24,326,147 (GRCm39)	critical splice donor site	probably null
R6176:Phldb3	UTSW	7	24,326,127 (GRCm39)	missense	probably damaging	1.00
R6756:Phldb3	UTSW	7	24,326,756 (GRCm39)	missense	probably damaging	1.00
R6800:Phldb3	UTSW	7	24,323,577 (GRCm39)	missense	possibly damaging	0.93
R7223:Phldb3	UTSW	7	24,324,078 (GRCm39)	missense	probably benign
R7485:Phldb3	UTSW	7	24,310,689 (GRCm39)	start gained	probably benign
R7707:Phldb3	UTSW	7	24,326,022 (GRCm39)	missense	possibly damaging	0.80
R8094:Phldb3	UTSW	7	24,326,134 (GRCm39)	missense	probably damaging	1.00
R8437:Phldb3	UTSW	7	24,328,375 (GRCm39)	missense	probably damaging	1.00
R9099:Phldb3	UTSW	7	24,323,727 (GRCm39)	missense	probably benign	0.08
R9137:Phldb3	UTSW	7	24,310,723 (GRCm39)	start gained	probably benign
R9151:Phldb3	UTSW	7	24,324,048 (GRCm39)	splice site	probably benign
R9375:Phldb3	UTSW	7	24,323,297 (GRCm39)	missense	probably damaging	1.00
R9418:Phldb3	UTSW	7	24,328,354 (GRCm39)	missense	probably damaging	1.00
R9610:Phldb3	UTSW	7	24,328,372 (GRCm39)	missense	probably damaging	1.00
R9611:Phldb3	UTSW	7	24,328,372 (GRCm39)	missense	probably damaging	1.00
R9612:Phldb3	UTSW	7	24,328,372 (GRCm39)	missense	probably damaging	1.00
RF010:Phldb3	UTSW	7	24,325,920 (GRCm39)	frame shift	probably null
RF031:Phldb3	UTSW	7	24,325,918 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTTATGTAGTCTCTAGACCTG -3'
(R):5'- CGGTGAGTATAGTCAGAGTGGC -3'

Sequencing Primer
(F):5'- TAGACCTGTCTCACATCTAGCATAG -3'
(R):5'- AGTATAGTCAGAGTGGCTTTCCCC -3'

Posted On

2022-01-20