Mutagenetix > Incidental Mutation

Incidental Mutation 'R1731:Phldb3'

199314

Institutional Source

Beutler Lab

Gene Symbol

Phldb3

Ensembl Gene

ENSMUSG00000074277

Gene Name

pleckstrin homology like domain, family B, member 3

Synonyms

Gm10102, EG232970

MMRRC Submission

039763-MU

Accession Numbers

Essential gene?

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

Stock #

R1731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24310188-24328722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24318660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 313 (V313A)

Ref Sequence

ENSEMBL: ENSMUSP00000146187 (fasta)

Gene Model

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

AlphaFold

E9QAF4

Predicted Effect

probably benign
Transcript: ENSMUST00000073325
AA Change: V313A

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: V313A

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

noncoding transcript
Transcript: ENSMUST00000205330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205857

Predicted Effect

probably benign
Transcript: ENSMUST00000206422
AA Change: V313A

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,805 (GRCm39)	Y140F	probably damaging	Het
Adgrl4	T	G	3: 151,246,623 (GRCm39)	I641S	possibly damaging	Het
Aqp9	A	G	9: 71,030,250 (GRCm39)	I205T	possibly damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf2	C	T	2: 73,675,853 (GRCm39)	G123E	probably damaging	Het
Baz1a	T	C	12: 54,965,330 (GRCm39)	D708G	possibly damaging	Het
Calcrl	A	G	2: 84,175,512 (GRCm39)		probably null	Het
Capzb	T	A	4: 139,007,341 (GRCm39)	W110R	probably damaging	Het
Casp8ap2	A	T	4: 32,641,442 (GRCm39)	N832I	possibly damaging	Het
Cecr2	T	A	6: 120,735,141 (GRCm39)	H764Q	possibly damaging	Het
Cep131	T	C	11: 119,967,742 (GRCm39)		probably null	Het
Ces2e	T	C	8: 105,656,208 (GRCm39)	V173A	probably damaging	Het
Clstn3	T	C	6: 124,408,591 (GRCm39)	D944G	probably benign	Het
Cyb5rl	C	A	4: 106,938,110 (GRCm39)	A189E	probably damaging	Het
Cyp2c40	A	G	19: 39,801,133 (GRCm39)	S41P	probably damaging	Het
Dscam	A	G	16: 96,621,076 (GRCm39)	L544P	probably damaging	Het
Epha2	A	G	4: 141,049,063 (GRCm39)	K640E	possibly damaging	Het
Erap1	T	A	13: 74,814,241 (GRCm39)	C8*	probably null	Het
Fat3	A	G	9: 15,907,233 (GRCm39)	V2923A	probably benign	Het
Fat4	A	T	3: 38,945,459 (GRCm39)	I1451F	probably damaging	Het
Fcsk	A	T	8: 111,621,455 (GRCm39)	I163N	probably damaging	Het
Fzd6	G	A	15: 38,894,722 (GRCm39)	G296D	probably damaging	Het
Gm3486	T	A	14: 41,206,492 (GRCm39)	M194L	probably benign	Het
Gm5592	C	T	7: 40,937,837 (GRCm39)	A373V	probably damaging	Het
Hectd3	T	A	4: 116,853,652 (GRCm39)		probably null	Het
Hira	T	A	16: 18,751,764 (GRCm39)	V521E	probably benign	Het
Hsd17b6	A	G	10: 127,830,348 (GRCm39)	L141S	possibly damaging	Het
Idua	A	G	5: 108,829,538 (GRCm39)	D467G	probably benign	Het
Ikzf4	G	A	10: 128,470,401 (GRCm39)	P373L	probably benign	Het
Kcng1	T	C	2: 168,110,609 (GRCm39)	E185G	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lpcat4	T	C	2: 112,074,188 (GRCm39)	L250P	probably damaging	Het
Lrrc49	A	G	9: 60,528,914 (GRCm39)	Y281H	probably damaging	Het
Mta2	C	A	19: 8,925,088 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,782,386 (GRCm39)	I372T	possibly damaging	Het
Myocd	T	A	11: 65,091,714 (GRCm39)	N76I	probably benign	Het
Nav2	T	A	7: 49,197,922 (GRCm39)	Y1123N	probably damaging	Het
Otogl	A	T	10: 107,652,972 (GRCm39)	C1127S	probably damaging	Het
Pcdhb8	A	G	18: 37,488,891 (GRCm39)	K190E	probably damaging	Het
Pcnx1	A	G	12: 82,037,478 (GRCm39)	H1918R	probably damaging	Het
Pde2a	T	A	7: 101,150,867 (GRCm39)	Y272N	probably damaging	Het
Plch2	C	T	4: 155,091,451 (GRCm39)	V116I	possibly damaging	Het
Plod2	G	A	9: 92,466,657 (GRCm39)		probably null	Het
Ppfibp2	T	C	7: 107,339,796 (GRCm39)	Y730H	probably damaging	Het
Ptprh	T	C	7: 4,604,912 (GRCm39)	E44G	probably benign	Het
Rab11fip1	T	C	8: 27,642,438 (GRCm39)	E787G	probably damaging	Het
Rabep2	T	A	7: 126,043,444 (GRCm39)	L448Q	probably damaging	Het
Rbfox3	A	G	11: 118,387,762 (GRCm39)		probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf125	A	G	18: 21,110,873 (GRCm39)	T44A	probably benign	Het
Rusc2	G	T	4: 43,426,046 (GRCm39)	A1384S	probably benign	Het
Selp	T	A	1: 163,969,009 (GRCm39)	C536*	probably null	Het
Serpinb3c	G	A	1: 107,199,504 (GRCm39)	T339I	probably damaging	Het
Slc4a5	C	T	6: 83,273,617 (GRCm39)	R986C	probably damaging	Het
Slc8b1	T	C	5: 120,659,180 (GRCm39)	I208T	probably benign	Het
Sp3	G	A	2: 72,776,999 (GRCm39)	H533Y	probably damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tiam2	A	G	17: 3,568,698 (GRCm39)	R1615G	probably damaging	Het
Tie1	T	C	4: 118,333,460 (GRCm39)	E802G	probably damaging	Het
Tinagl1	A	G	4: 130,061,842 (GRCm39)	V164A	probably benign	Het
Vmn1r68	A	G	7: 10,261,802 (GRCm39)	Y99H	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r56	T	C	7: 12,466,972 (GRCm39)	T21A	probably benign	Het
Zfp108	C	A	7: 23,957,964 (GRCm39)	H34Q	possibly damaging	Het
Zfp267	T	A	3: 36,218,620 (GRCm39)	F214L	probably benign	Het
Zfp456	C	T	13: 67,514,674 (GRCm39)	S344N	probably benign	Het
Zscan22	T	C	7: 12,640,907 (GRCm39)	C384R	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
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
R9126:Phldb3	UTSW	7	24,326,726 (GRCm39)	missense	probably damaging	1.00
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'- CATGGAGAGTAGCCTGGAGTCCTG -3'
(R):5'- AGGAAATCCCCTACCTTGGTGAGTG -3'

Sequencing Primer
(F):5'- TCCTGGGCAGACAAATGAATG -3'
(R):5'- GGCTCAGAGAAGTCCCCAC -3'

Posted On

2014-05-23