Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01073:Pgap2'

51456

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 #

IGL01073

Quality Score

Status

Chromosome

Chromosomal Location

101859415-101887774 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 101875661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033292] [ENSMUST00000119816] [ENSMUST00000120119] [ENSMUST00000120879] [ENSMUST00000126914] [ENSMUST00000138479] [ENSMUST00000142873] [ENSMUST00000145352] [ENSMUST00000140058] [ENSMUST00000143541] [ENSMUST00000129340] [ENSMUST00000138753] [ENSMUST00000146559] [ENSMUST00000146996] [ENSMUST00000140631] [ENSMUST00000153020] [ENSMUST00000156529]

AlphaFold

Q3TQR0

Predicted Effect

probably benign
Transcript: ENSMUST00000033292

SMART Domains

Protein: ENSMUSP00000033292
Gene: ENSMUSG00000030990

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

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 benign
Transcript: ENSMUST00000120119

SMART Domains

Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120879

SMART Domains

Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124619

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

noncoding transcript
Transcript: ENSMUST00000127804

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000150891

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: 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: ENSMUST00000138753

SMART Domains

Protein: ENSMUSP00000116858
Gene: ENSMUSG00000030990

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147536

Predicted Effect

probably benign
Transcript: ENSMUST00000146559

Predicted Effect

probably benign
Transcript: ENSMUST00000146996

SMART Domains

Protein: ENSMUSP00000118677
Gene: ENSMUSG00000030990

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140631

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: ENSMUST00000156529

SMART Domains

Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,156 (GRCm39)	D110G	possibly damaging	Het
Ccnd3	A	G	17: 47,905,770 (GRCm39)	T104A	probably benign	Het
Cntnap5b	A	T	1: 100,003,755 (GRCm39)	D245V	probably benign	Het
Cryab	A	G	9: 50,665,855 (GRCm39)	K82R	probably damaging	Het
Dnmt3b	G	A	2: 153,512,762 (GRCm39)		probably benign	Het
Eif2b5	A	T	16: 20,319,046 (GRCm39)	K99*	probably null	Het
Fam222b	A	G	11: 78,045,314 (GRCm39)	I292V	probably damaging	Het
Itpr1	A	C	6: 108,390,781 (GRCm39)	N1560T	probably benign	Het
Lca5	T	A	9: 83,277,528 (GRCm39)	K605N	probably damaging	Het
Letm1	T	C	5: 33,906,144 (GRCm39)	D424G	possibly damaging	Het
Mtif3	C	A	5: 146,895,790 (GRCm39)	R99L	probably damaging	Het
Nrxn3	A	G	12: 89,221,510 (GRCm39)	M430V	probably benign	Het
Or4c121	A	T	2: 89,023,481 (GRCm39)	L299Q	possibly damaging	Het
Phf11c	A	T	14: 59,626,797 (GRCm39)	S129T	probably benign	Het
Ptpro	A	G	6: 137,354,086 (GRCm39)	N154S	probably damaging	Het
Rfng	C	T	11: 120,674,747 (GRCm39)	R81H	probably benign	Het
Rnf38	A	G	4: 44,137,645 (GRCm39)	M280T	probably benign	Het
Rrp7a	G	A	15: 83,002,282 (GRCm39)	A185V	probably benign	Het
Slc22a2	C	A	17: 12,803,236 (GRCm39)	F23L	probably benign	Het
Slc35f1	A	G	10: 52,898,056 (GRCm39)	T156A	probably benign	Het
Slfn1	A	T	11: 83,012,163 (GRCm39)	Y93F	probably benign	Het
Snrnp200	A	T	2: 127,056,832 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,730,176 (GRCm39)	F701S	probably damaging	Het
Tmem203	A	C	2: 25,145,736 (GRCm39)	I19L	probably benign	Het
Usp8	A	T	2: 126,560,034 (GRCm39)	K18N	probably damaging	Het
Vmn2r115	G	A	17: 23,564,971 (GRCm39)	R286K	probably benign	Het
Vmn2r23	A	C	6: 123,689,759 (GRCm39)	T212P	possibly damaging	Het

Other mutations in Pgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02638:Pgap2	APN	7	101,886,629 (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

2013-06-21