Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02352:Pgap2'

289507

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 #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

101859415-101887774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101885346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 71 (V71F)

Ref Sequence

ENSEMBL: ENSMUSP00000121988 (fasta)

Gene Model

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

AlphaFold

Q3TQR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000033292
AA Change: V71F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033292
Gene: ENSMUSG00000030990
AA Change: V71F

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: V69F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990
AA Change: V69F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120879
AA Change: V71F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126914
AA Change: V71F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114853
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153020
AA Change: V71F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123570
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138479
AA Change: V71F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115590
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143541
AA Change: V71F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117450
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156529
AA Change: V71F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138753
AA Change: V71F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116858
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142873
AA Change: V71F

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

SMART Domains

Protein: ENSMUSP00000121988
Gene: ENSMUSG00000030990
AA Change: V71F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133311

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: 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: 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: ENSMUST00000209968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214560

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,941,829 (GRCm39)		probably null	Het
Abca5	T	A	11: 110,166,156 (GRCm39)	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,179,562 (GRCm39)		probably null	Het
Aldh2	T	C	5: 121,713,960 (GRCm39)	E128G	probably null	Het
Anln	A	G	9: 22,279,708 (GRCm39)	V494A	probably benign	Het
Ano3	A	T	2: 110,715,288 (GRCm39)	L50*	probably null	Het
Atp13a3	A	G	16: 30,169,902 (GRCm39)	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,019,631 (GRCm39)	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,020,990 (GRCm39)		probably benign	Het
Ccdc150	G	A	1: 54,311,680 (GRCm39)	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,807,003 (GRCm39)	I9N	probably damaging	Het
Cmip	A	T	8: 118,137,994 (GRCm39)		probably benign	Het
Cyp21a1	A	G	17: 35,023,196 (GRCm39)	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,278,121 (GRCm39)	W10R	possibly damaging	Het
Dock10	A	G	1: 80,483,378 (GRCm39)	Y2076H	probably damaging	Het
Dpcd	G	T	19: 45,565,493 (GRCm39)	A156S	probably benign	Het
Egflam	T	C	15: 7,263,706 (GRCm39)	N748S	probably benign	Het
Fam227b	A	G	2: 125,988,174 (GRCm39)		probably benign	Het
Fancd2	T	A	6: 113,540,073 (GRCm39)	I654N	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Hrh1	C	A	6: 114,457,404 (GRCm39)	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,675,474 (GRCm39)	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,009,267 (GRCm39)	F734L	probably benign	Het
Kif5a	T	C	10: 127,079,370 (GRCm39)	Y276C	probably damaging	Het
Lax1	A	T	1: 133,608,208 (GRCm39)	S178T	possibly damaging	Het
Marchf6	C	T	15: 31,509,905 (GRCm39)	C28Y	probably damaging	Het
Mylk3	T	C	8: 86,081,931 (GRCm39)	T356A	probably benign	Het
Obscn	T	C	11: 58,891,853 (GRCm39)	E6893G	probably benign	Het
Or2l13	T	C	16: 19,305,927 (GRCm39)	L113P	probably damaging	Het
Pate7	A	T	9: 35,689,180 (GRCm39)	M1K	probably null	Het
Prob1	T	G	18: 35,785,893 (GRCm39)	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,475,691 (GRCm39)	D430E	probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,803 (GRCm39)		probably benign	Het
Sgsm2	G	T	11: 74,782,900 (GRCm39)		probably benign	Het
Slc38a9	A	G	13: 112,826,720 (GRCm39)	I153V	probably benign	Het
Slco1b2	T	A	6: 141,631,251 (GRCm39)	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,362,727 (GRCm39)	S145P	probably benign	Het
Sv2b	T	C	7: 74,786,197 (GRCm39)	T408A	probably benign	Het
Usp24	T	C	4: 106,261,122 (GRCm39)	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,939,043 (GRCm39)	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,504,084 (GRCm39)	V155M	probably damaging	Het
Wsb1	G	A	11: 79,141,838 (GRCm39)	L60F	probably damaging	Het
Wwp2	C	T	8: 108,267,278 (GRCm39)	R297*	probably null	Het
Xkr6	T	C	14: 64,057,156 (GRCm39)	Y356H	unknown	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
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

2015-04-16