Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Plekha4'

237867

Institutional Source

Beutler Lab

Gene Symbol

Plekha4

Ensembl Gene

ENSMUSG00000040428

Gene Name

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4

Synonyms

2410005C22Rik, PEPP1

MMRRC Submission

040189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45175754-45203653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45198698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 574 (R574C)

Ref Sequence

ENSEMBL: ENSMUSP00000148229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000209517] [ENSMUST00000211155] [ENSMUST00000211227] [ENSMUST00000211797]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051810
AA Change: R574C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: R574C

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121932
AA Change: R574C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113802
Gene: ENSMUSG00000040428
AA Change: R574C

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209517
AA Change: R574C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210460

Predicted Effect

probably benign
Transcript: ENSMUST00000210797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211106

Predicted Effect

probably damaging
Transcript: ENSMUST00000211155
AA Change: R546C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211227
AA Change: R574C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000211348

Predicted Effect

probably benign
Transcript: ENSMUST00000211797

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	A	17: 31,324,491 (GRCm39)	S245R	probably damaging	Het
AI597479	T	A	1: 43,139,983 (GRCm39)	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,520,039 (GRCm39)	S575G	probably benign	Het
Bfsp2	T	A	9: 103,303,976 (GRCm39)	K343*	probably null	Het
Cant1	A	T	11: 118,299,667 (GRCm39)	Y227*	probably null	Het
Cd2bp2	T	C	7: 126,793,963 (GRCm39)	N109D	probably benign	Het
Chmp6	A	G	11: 119,807,562 (GRCm39)	E135G	possibly damaging	Het
Dsp	T	G	13: 38,360,383 (GRCm39)	S329R	probably damaging	Het
Epha5	A	T	5: 84,234,223 (GRCm39)	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648 (GRCm39)	T566S	possibly damaging	Het
Erap1	A	T	13: 74,810,524 (GRCm39)	I288F	probably damaging	Het
Erich6	A	G	3: 58,537,266 (GRCm39)		probably null	Het
Fbxo10	A	G	4: 45,058,531 (GRCm39)	V402A	probably benign	Het
Fndc1	T	A	17: 7,960,604 (GRCm39)	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,877,219 (GRCm39)	Q327P	probably damaging	Het
Fxn	T	A	19: 24,257,853 (GRCm39)	N26I	probably benign	Het
Hsf5	G	T	11: 87,529,010 (GRCm39)	G582C	possibly damaging	Het
Itga8	A	G	2: 12,199,231 (GRCm39)	V522A	possibly damaging	Het
Kplce	A	G	3: 92,775,922 (GRCm39)	S254P	probably damaging	Het
Lyst	C	T	13: 13,883,926 (GRCm39)	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,739,390 (GRCm39)	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,797 (GRCm39)	F290S	probably damaging	Het
Mst1	T	C	9: 107,961,539 (GRCm39)	Y599H	possibly damaging	Het
Mylk4	T	C	13: 32,905,996 (GRCm39)	I165V	probably damaging	Het
Nipsnap2	T	C	5: 129,823,537 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Nup93	T	A	8: 95,027,478 (GRCm39)	S295R	probably damaging	Het
Nutm2	A	T	13: 50,621,453 (GRCm39)	Q6L	probably benign	Het
Or2b6	A	T	13: 21,823,555 (GRCm39)	I46N	probably damaging	Het
Or5ak20	T	G	2: 85,184,259 (GRCm39)	S4R	probably benign	Het
Or5b12b	T	A	19: 12,861,619 (GRCm39)	C125S	probably damaging	Het
Or6c33	A	G	10: 129,853,557 (GRCm39)	E109G	probably damaging	Het
Pip5k1a	A	T	3: 94,979,229 (GRCm39)	L189Q	probably damaging	Het
Ppp2cb	A	G	8: 34,100,705 (GRCm39)	E42G	possibly damaging	Het
Prkd3	T	A	17: 79,282,983 (GRCm39)	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,595,425 (GRCm39)	R1023*	probably null	Het
Ptpra	A	G	2: 130,346,219 (GRCm39)	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Rasgrf1	T	C	9: 89,876,888 (GRCm39)	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,459,022 (GRCm39)	K697R	probably damaging	Het
Rhoa	C	T	9: 108,212,352 (GRCm39)	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,844,617 (GRCm39)	S370G	probably null	Het
Sdk1	C	T	5: 142,100,329 (GRCm39)	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,072,793 (GRCm39)	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,427,653 (GRCm39)	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,955,982 (GRCm39)	S352N	possibly damaging	Het
Spta1	A	G	1: 174,020,532 (GRCm39)	D547G	probably damaging	Het
Tc2n	G	A	12: 101,672,803 (GRCm39)	T46I	probably damaging	Het
Terb1	T	A	8: 105,199,516 (GRCm39)	Y476F	probably benign	Het
Trim12a	T	A	7: 103,953,399 (GRCm39)	E237D	probably damaging	Het
Usp47	T	C	7: 111,666,398 (GRCm39)	L309P	probably damaging	Het

Other mutations in Plekha4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Plekha4	APN	7	45,187,659 (GRCm39)	missense	probably damaging	0.97
IGL01716:Plekha4	APN	7	45,183,767 (GRCm39)	missense	probably damaging	0.98
IGL02072:Plekha4	APN	7	45,187,722 (GRCm39)	missense	probably benign	0.29
IGL02815:Plekha4	APN	7	45,187,836 (GRCm39)	missense	probably damaging	1.00
IGL02939:Plekha4	APN	7	45,181,787 (GRCm39)	nonsense	probably null
PIT4494001:Plekha4	UTSW	7	45,197,503 (GRCm39)	missense	probably damaging	1.00
R0085:Plekha4	UTSW	7	45,193,373 (GRCm39)	nonsense	probably null
R0239:Plekha4	UTSW	7	45,181,782 (GRCm39)	missense	probably damaging	1.00
R0239:Plekha4	UTSW	7	45,181,782 (GRCm39)	missense	probably damaging	1.00
R1036:Plekha4	UTSW	7	45,199,400 (GRCm39)	splice site	probably benign
R1955:Plekha4	UTSW	7	45,203,330 (GRCm39)	missense	probably damaging	0.99
R2049:Plekha4	UTSW	7	45,203,222 (GRCm39)	missense	probably benign	0.01
R2888:Plekha4	UTSW	7	45,187,668 (GRCm39)	missense	probably damaging	1.00
R5086:Plekha4	UTSW	7	45,203,082 (GRCm39)	missense	possibly damaging	0.82
R5357:Plekha4	UTSW	7	45,184,195 (GRCm39)	missense	probably damaging	1.00
R5604:Plekha4	UTSW	7	45,198,580 (GRCm39)	missense	probably damaging	0.96
R5611:Plekha4	UTSW	7	45,203,065 (GRCm39)	missense	probably benign
R6255:Plekha4	UTSW	7	45,203,226 (GRCm39)	utr 3 prime	probably benign
R6341:Plekha4	UTSW	7	45,190,572 (GRCm39)	missense	probably damaging	1.00
R6502:Plekha4	UTSW	7	45,180,000 (GRCm39)	start codon destroyed	probably null	0.87
R6720:Plekha4	UTSW	7	45,190,310 (GRCm39)	missense	possibly damaging	0.86
R6776:Plekha4	UTSW	7	45,184,241 (GRCm39)	missense	probably damaging	1.00
R8057:Plekha4	UTSW	7	45,198,695 (GRCm39)	missense	probably benign
R9095:Plekha4	UTSW	7	45,190,492 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTTCAGAGTCACTGGAG -3'
(R):5'- CATTGTGGTAAGCGATGGC -3'

Sequencing Primer
(F):5'- TCAGTCCCCTGAGGTGGAC -3'
(R):5'- AGGCGTTTAGTAACTACCCG -3'

Posted On

2014-10-02