Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Plekha1'

707248

Institutional Source

Beutler Lab

Gene Symbol

Plekha1

Ensembl Gene

ENSMUSG00000040268

Gene Name

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1

Synonyms

C920009D07Rik, TAPP1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130467486-130515042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130511348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 311 (C311S)

Ref Sequence

ENSEMBL: ENSMUSP00000074675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048180] [ENSMUST00000075181] [ENSMUST00000120441] [ENSMUST00000124096] [ENSMUST00000151119]

AlphaFold

Q8BUL6

Predicted Effect

probably benign
Transcript: ENSMUST00000048180

SMART Domains

Protein: ENSMUSP00000035375
Gene: ENSMUSG00000040268

Domain	Start	End	E-Value	Type
PDB:1V5P\|A	1	75	2e-33	PDB
Blast:PH	8	78	1e-36	BLAST
PH	144	243	1.71e-21	SMART
low complexity region	244	261	N/A	INTRINSIC
low complexity region	268	287	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075181
AA Change: C311S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
AA Change: C311S

Domain	Start	End	E-Value	Type
PH	8	114	2.16e-9	SMART
PH	192	291	1.71e-21	SMART
low complexity region	330	341	N/A	INTRINSIC
low complexity region	370	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120441
AA Change: C311S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
AA Change: C311S

Domain	Start	End	E-Value	Type
PH	8	114	2.16e-9	SMART
PH	192	291	1.71e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114411
Gene: ENSMUSG00000040268
AA Change: C72S

Domain	Start	End	E-Value	Type
Pfam:PH	2	51	6e-8	PFAM
low complexity region	102	113	N/A	INTRINSIC
low complexity region	142	153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136963

Predicted Effect

probably benign
Transcript: ENSMUST00000151119

SMART Domains

Protein: ENSMUSP00000123600
Gene: ENSMUSG00000040268

Domain	Start	End	E-Value	Type
PDB:1V5P\|A	1	67	3e-35	PDB
Blast:PH	8	67	7e-38	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adad1	T	C	3: 37,139,247 (GRCm39)	V439A	possibly damaging	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Arhgef10l	G	A	4: 140,338,624 (GRCm39)	T46I	probably damaging	Het
C3ar1	A	G	6: 122,827,278 (GRCm39)	V313A	probably benign	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc30	T	A	4: 119,190,920 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cept1	A	G	3: 106,412,575 (GRCm39)	L299S	possibly damaging	Het
Clba1	T	C	12: 112,775,898 (GRCm39)	L218P	probably damaging	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,479,346 (GRCm39)	L743P	probably benign	Het
Cop1	T	C	1: 159,072,221 (GRCm39)	V179A	probably benign	Het
Cpvl	A	G	6: 53,909,479 (GRCm39)	I219T	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Exosc10	T	C	4: 148,665,588 (GRCm39)	F842L	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Fbn2	G	A	18: 58,342,723 (GRCm39)	A52V	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm13283	T	A	4: 88,679,036 (GRCm39)	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,080,873 (GRCm39)	S58P		Het
Grm8	A	T	6: 27,761,214 (GRCm39)	S337T	probably benign	Het
Hdac5	G	A	11: 102,096,178 (GRCm39)	P332S	probably damaging	Het
Hr	A	T	14: 70,797,324 (GRCm39)	E519V	probably benign	Het
Hspbap1	A	G	16: 35,645,395 (GRCm39)	H360R	probably benign	Het
Iqgap3	T	G	3: 88,023,425 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Lrrn4	A	T	2: 132,712,552 (GRCm39)	S424T	probably benign	Het
Lsm10	C	A	4: 125,991,660 (GRCm39)	H5Q	probably damaging	Het
Megf10	A	T	18: 57,394,252 (GRCm39)	K459*	probably null	Het
Myo15b	A	C	11: 115,749,861 (GRCm39)	K210N		Het
Or12e7	T	A	2: 87,287,527 (GRCm39)	I6N	probably benign	Het
Or8k38	T	C	2: 86,488,476 (GRCm39)	T109A	probably benign	Het
Park7	A	T	4: 150,991,553 (GRCm39)	C46S	probably damaging	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Pprc1	T	A	19: 46,052,198 (GRCm39)	M576K	unknown	Het
Prelid3b	G	A	2: 174,310,161 (GRCm39)	T74M	probably benign	Het
Prg4	T	C	1: 150,327,116 (GRCm39)	Y311C	probably damaging	Het
Prom2	A	C	2: 127,371,094 (GRCm39)	V801G	probably damaging	Het
Psmd9	T	A	5: 123,386,387 (GRCm39)	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521 (GRCm39)	L647F	probably damaging	Het
Ptprj	T	C	2: 90,270,238 (GRCm39)	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,445,689 (GRCm39)	I449T	probably damaging	Het
Rev3l	A	T	10: 39,698,850 (GRCm39)	S1116C	probably benign	Het
Rnf212	A	T	5: 108,922,755 (GRCm39)	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Rtf2	A	T	2: 172,308,205 (GRCm39)	K201N	probably damaging	Het
Runx3	A	G	4: 134,890,574 (GRCm39)	T173A	probably damaging	Het
Sardh	T	C	2: 27,086,678 (GRCm39)	I827M	probably benign	Het
Sec22b	T	C	3: 97,828,494 (GRCm39)	Y186H	probably benign	Het
Serpina5	C	T	12: 104,071,542 (GRCm39)	T383I	possibly damaging	Het
Slc12a2	A	G	18: 58,063,238 (GRCm39)	D906G	probably damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Stat1	G	T	1: 52,191,429 (GRCm39)	A595S	probably benign	Het
Stat3	A	T	11: 100,798,815 (GRCm39)		probably null	Het
Styxl1	T	C	5: 135,794,592 (GRCm39)	S82G	probably benign	Het
Taf1b	T	A	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Them5	A	G	3: 94,254,048 (GRCm39)	M257V	unknown	Het
Tln1	A	T	4: 43,532,927 (GRCm39)	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,202,823 (GRCm39)	S379G	probably damaging	Het
Vrk1	T	C	12: 106,024,957 (GRCm39)		probably null	Het
Zbtb34	T	C	2: 33,301,716 (GRCm39)	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,799,274 (GRCm39)	C214R	probably benign	Het
Zeb2	A	G	2: 44,912,912 (GRCm39)	V137A	probably benign	Het

Other mutations in Plekha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Plekha1	APN	7	130,479,569 (GRCm39)	missense	probably damaging	1.00
IGL00973:Plekha1	APN	7	130,512,743 (GRCm39)	missense	probably damaging	0.96
IGL01010:Plekha1	APN	7	130,503,984 (GRCm39)	splice site	probably benign
IGL01726:Plekha1	APN	7	130,499,059 (GRCm39)	missense	probably damaging	1.00
R0137:Plekha1	UTSW	7	130,499,176 (GRCm39)	missense	probably damaging	0.98
R0681:Plekha1	UTSW	7	130,502,353 (GRCm39)	missense	possibly damaging	0.50
R1304:Plekha1	UTSW	7	130,503,949 (GRCm39)	missense	probably benign
R1786:Plekha1	UTSW	7	130,493,983 (GRCm39)	missense	probably benign	0.02
R2036:Plekha1	UTSW	7	130,503,922 (GRCm39)	missense	probably damaging	1.00
R2844:Plekha1	UTSW	7	130,510,095 (GRCm39)	missense	probably damaging	1.00
R2845:Plekha1	UTSW	7	130,510,095 (GRCm39)	missense	probably damaging	1.00
R2846:Plekha1	UTSW	7	130,510,095 (GRCm39)	missense	probably damaging	1.00
R5119:Plekha1	UTSW	7	130,507,094 (GRCm39)	intron	probably benign
R5167:Plekha1	UTSW	7	130,487,179 (GRCm39)	critical splice donor site	probably null
R5470:Plekha1	UTSW	7	130,510,106 (GRCm39)	missense	probably damaging	1.00
R5536:Plekha1	UTSW	7	130,511,331 (GRCm39)	missense	probably damaging	0.96
R5975:Plekha1	UTSW	7	130,493,983 (GRCm39)	missense	probably benign	0.02
R6087:Plekha1	UTSW	7	130,502,301 (GRCm39)	missense	probably benign	0.06
R6346:Plekha1	UTSW	7	130,479,512 (GRCm39)	missense	probably benign	0.17
R7581:Plekha1	UTSW	7	130,512,595 (GRCm39)	missense	probably benign
R8152:Plekha1	UTSW	7	130,510,102 (GRCm39)	missense	probably damaging	1.00
R8937:Plekha1	UTSW	7	130,502,241 (GRCm39)	splice site	probably benign
R8998:Plekha1	UTSW	7	130,510,199 (GRCm39)	missense	unknown
R8999:Plekha1	UTSW	7	130,510,199 (GRCm39)	missense	unknown
R9299:Plekha1	UTSW	7	130,511,348 (GRCm39)	missense	possibly damaging	0.67
R9613:Plekha1	UTSW	7	130,479,488 (GRCm39)	missense	probably damaging	1.00
R9653:Plekha1	UTSW	7	130,479,494 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ACAGTCAAGTATGAGATTCTCTGC -3'
(R):5'- ACATATCCAACCTGATGACTACGG -3'

Sequencing Primer
(F):5'- GAGATTCTCTGCAAAAACAATGTCTG -3'
(R):5'- GATGACTACGGTAAAATACTTTGCG -3'

Posted On

2022-04-18