Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02638:Pgap2'

301608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgap2

Ensembl Gene

ENSMUSG00000030990

Gene Name

post-GPI attachment to proteins 2

Synonyms

1810006G21Rik, clpex, Frag1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

101859415-101887774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101886629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 217 (L217P)

Ref Sequence

ENSEMBL: ENSMUSP00000113574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033292] [ENSMUST00000098230] [ENSMUST00000106923] [ENSMUST00000119816] [ENSMUST00000120119] [ENSMUST00000120879] [ENSMUST00000126914] [ENSMUST00000156529] [ENSMUST00000145352] [ENSMUST00000140058] [ENSMUST00000129340] [ENSMUST00000138479] [ENSMUST00000138753] [ENSMUST00000142873] [ENSMUST00000153020] [ENSMUST00000143541] [ENSMUST00000209968]

AlphaFold

Q3TQR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000033292
AA Change: L219P

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

SMART Domains

Protein: ENSMUSP00000033292
Gene: ENSMUSG00000030990
AA Change: L219P

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	241	2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098230

SMART Domains

Protein: ENSMUSP00000095832
Gene: ENSMUSG00000073982

Domain	Start	End	E-Value	Type
RHO	6	179	1.87e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106923

SMART Domains

Protein: ENSMUSP00000102536
Gene: ENSMUSG00000073982

Domain	Start	End	E-Value	Type
RHO	6	179	1.87e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119816

SMART Domains

Protein: ENSMUSP00000113261
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120119
AA Change: L217P

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

SMART Domains

Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990
AA Change: L217P

Domain	Start	End	E-Value	Type
Pfam:Frag1	16	239	1.6e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120879
AA Change: L215P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990
AA Change: L215P

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	237	7.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126914

SMART Domains

Protein: ENSMUSP00000114853
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	101	6.6e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156529
AA Change: L215P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990
AA Change: L215P

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	237	7.2e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134621

Predicted Effect

probably benign
Transcript: ENSMUST00000145352

SMART Domains

Protein: ENSMUSP00000123523
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140058

SMART Domains

Protein: ENSMUSP00000122482
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129340

SMART Domains

Protein: ENSMUSP00000119692
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138479

SMART Domains

Protein: ENSMUSP00000115590
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	209	5.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138753

SMART Domains

Protein: ENSMUSP00000116858
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	123	9.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142873

SMART Domains

Protein: ENSMUSP00000121988
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	136	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153020

SMART Domains

Protein: ENSMUSP00000123570
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	209	5.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143541

SMART Domains

Protein: ENSMUSP00000117450
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	79	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214560

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh3	T	A	2: 93,838,458 (GRCm39)	T38S	probably benign	Het
Btbd8	T	C	5: 107,656,422 (GRCm39)	V895A	possibly damaging	Het
Cdkn2c	A	G	4: 109,522,209 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,631,939 (GRCm39)	C189G	probably damaging	Het
Clec4f	T	A	6: 83,629,682 (GRCm39)	N292I	possibly damaging	Het
Dkk3	A	C	7: 111,748,234 (GRCm39)	S123R	probably benign	Het
Dock1	C	T	7: 134,748,209 (GRCm39)	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676 (GRCm39)	Q403*	probably null	Het
F5	G	A	1: 164,012,177 (GRCm39)		probably null	Het
Fam98c	T	A	7: 28,852,187 (GRCm39)	D326V	probably damaging	Het
Firrm	G	A	1: 163,786,868 (GRCm39)	Q734*	probably null	Het
Frem2	A	C	3: 53,458,767 (GRCm39)	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,958,318 (GRCm39)	G18D	probably damaging	Het
Grhl3	T	C	4: 135,284,176 (GRCm39)	E222G	probably benign	Het
Hif3a	A	C	7: 16,778,293 (GRCm39)		probably benign	Het
Ibtk	C	T	9: 85,601,946 (GRCm39)	G755D	probably damaging	Het
Laptm4b	A	G	15: 34,277,630 (GRCm39)	N187S	probably benign	Het
Lrba	A	G	3: 86,232,380 (GRCm39)	T776A	probably damaging	Het
Matcap2	A	T	9: 22,341,775 (GRCm39)	K149*	probably null	Het
Mfhas1	T	A	8: 36,058,104 (GRCm39)	W860R	possibly damaging	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Nup42	A	G	5: 24,380,505 (GRCm39)	T167A	probably benign	Het
Or10j2	A	G	1: 173,097,898 (GRCm39)	D52G	probably benign	Het
Or2z2	C	A	11: 58,345,873 (GRCm39)	A301S	probably damaging	Het
Or4k45	T	C	2: 111,395,249 (GRCm39)	D180G	probably damaging	Het
Or5w10	T	C	2: 87,375,093 (GRCm39)	Y265C	probably damaging	Het
Or8j3c	T	C	2: 86,254,021 (GRCm39)		probably null	Het
Pik3c2b	T	G	1: 133,005,056 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,006,092 (GRCm39)	D149V	probably damaging	Het
Prkcb	C	T	7: 122,200,063 (GRCm39)		probably benign	Het
Prl	A	G	13: 27,245,562 (GRCm39)	D97G	probably benign	Het
Psma5-ps	T	C	10: 85,149,698 (GRCm39)		noncoding transcript	Het
Rnf112	T	C	11: 61,340,231 (GRCm39)		probably benign	Het
Slc17a8	C	A	10: 89,412,465 (GRCm39)	G323*	probably null	Het
Snx19	T	C	9: 30,343,660 (GRCm39)	F607L	possibly damaging	Het
Suco	A	G	1: 161,655,256 (GRCm39)	S1079P	probably damaging	Het
Taf5	T	C	19: 47,056,649 (GRCm39)	L149P	probably benign	Het
Taf6l	T	C	19: 8,752,630 (GRCm39)	M379V	probably benign	Het
Tcf25	T	C	8: 124,126,031 (GRCm39)	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,070,444 (GRCm39)	V102A	probably benign	Het
Tmc5	G	T	7: 118,226,456 (GRCm39)	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624 (GRCm39)	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,022,109 (GRCm39)	L127P	possibly damaging	Het
Usp24	A	C	4: 106,295,967 (GRCm39)		probably benign	Het
Usp24	C	A	4: 106,295,969 (GRCm39)		probably benign	Het
Usp43	T	G	11: 67,746,581 (GRCm39)	D1042A	probably benign	Het
Whrn	T	C	4: 63,337,709 (GRCm39)	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,862,032 (GRCm39)	I102T	probably benign	Het
Zfp763	T	C	17: 33,238,908 (GRCm39)	D79G	probably benign	Het
Zmat4	A	G	8: 24,287,389 (GRCm39)	Y45C	probably damaging	Het

Other mutations in Pgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Pgap2	APN	7	101,875,661 (GRCm39)	splice site	probably benign
IGL01363:Pgap2	APN	7	101,875,489 (GRCm39)	start codon destroyed	probably null	1.00
IGL02352:Pgap2	APN	7	101,885,346 (GRCm39)	missense	probably damaging	1.00
IGL02359:Pgap2	APN	7	101,885,346 (GRCm39)	missense	probably damaging	1.00
IGL03097:Pgap2	UTSW	7	101,885,434 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Pgap2	UTSW	7	101,886,405 (GRCm39)	missense	possibly damaging	0.45
R0452:Pgap2	UTSW	7	101,885,669 (GRCm39)	missense	probably damaging	1.00
R0747:Pgap2	UTSW	7	101,886,343 (GRCm39)	nonsense	probably null
R0840:Pgap2	UTSW	7	101,886,655 (GRCm39)	missense	probably damaging	0.96
R4551:Pgap2	UTSW	7	101,875,674 (GRCm39)	intron	probably benign
R5122:Pgap2	UTSW	7	101,880,598 (GRCm39)	missense	probably damaging	1.00
R6440:Pgap2	UTSW	7	101,886,594 (GRCm39)	splice site	probably null
R7358:Pgap2	UTSW	7	101,859,774 (GRCm39)	unclassified	probably benign
R7363:Pgap2	UTSW	7	101,875,467 (GRCm39)	splice site	probably null
R7405:Pgap2	UTSW	7	101,880,595 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16