Mutagenetix > Incidental Mutation

Incidental Mutation 'R9611:Phldb3'

724214

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R9611 (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 24328372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 639 (V639M)

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: V639M

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

SMART Domains

Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: V639M

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: V639M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Ahnak	T	A	19: 8,989,162 (GRCm39)	L3482Q	probably damaging	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cntnap5b	C	A	1: 99,894,935 (GRCm39)	P69Q	probably damaging	Het
Coa8	T	G	12: 111,700,108 (GRCm39)	Y163D	probably damaging	Het
Col4a3	A	G	1: 82,678,018 (GRCm39)	M1207V	unknown	Het
Colgalt2	T	A	1: 152,360,745 (GRCm39)	W261R	probably damaging	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fmo5	C	T	3: 97,549,089 (GRCm39)	R246C	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Ighv1-26	T	C	12: 114,752,206 (GRCm39)	Y46C	probably damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGCTGTTGCTG	CTGCTG	15: 98,743,054 (GRCm39)		probably benign	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Or5ac25	A	C	16: 59,182,242 (GRCm39)	I113S	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pigyl	A	T	9: 22,069,499 (GRCm39)	H70L	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
St18	T	C	1: 6,873,147 (GRCm39)	V294A	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syne2	T	C	12: 76,080,460 (GRCm39)	F58S	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tcirg1	A	T	19: 3,953,400 (GRCm39)	F149Y	probably benign	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tnfaip8	ACACACTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wdr47	A	T	3: 108,518,729 (GRCm39)	E72D	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp189	G	T	4: 49,530,058 (GRCm39)	C387F	probably damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	probably benign	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
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
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'- AAGGGAACAGGCATTCTAGC -3'
(R):5'- AGGAGCACCAATAAATAGTTCCTTCC -3'

Sequencing Primer
(F):5'- GCATTCTAGCCCAGTTTAGGAAGAC -3'
(R):5'- GACCTCCTTTCTCAGAGG -3'

Posted On

2022-09-12