Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Pgap2'

70185

Institutional Source

Beutler Lab

Gene Symbol

Pgap2

Ensembl Gene

ENSMUSG00000030990

Gene Name

post-GPI attachment to proteins 2

Synonyms

1810006G21Rik, clpex, Frag1

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101859415-101887774 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 101886343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 176 (Y176*)

Ref Sequence

ENSEMBL: ENSMUSP00000121521 (fasta)

Gene Model

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

AlphaFold

Q3TQR0

Predicted Effect

probably null
Transcript: ENSMUST00000033292
AA Change: Y180*

SMART Domains

Protein: ENSMUSP00000033292
Gene: ENSMUSG00000030990
AA Change: Y180*

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 null
Transcript: ENSMUST00000120119
AA Change: Y178*

SMART Domains

Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990
AA Change: Y178*

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

Predicted Effect

probably null
Transcript: ENSMUST00000120879
AA Change: Y176*

SMART Domains

Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990
AA Change: Y176*

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 null
Transcript: ENSMUST00000137303
AA Change: Y127*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134621

Predicted Effect

probably null
Transcript: ENSMUST00000138479
AA Change: Y180*

SMART Domains

Protein: ENSMUSP00000115590
Gene: ENSMUSG00000030990
AA Change: Y180*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150891

Predicted Effect

probably null
Transcript: ENSMUST00000153020
AA Change: Y180*

SMART Domains

Protein: ENSMUSP00000123570
Gene: ENSMUSG00000030990
AA Change: Y180*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127804

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

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: 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: ENSMUST00000143541

SMART Domains

Protein: ENSMUSP00000117450
Gene: ENSMUSG00000030990

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

Predicted Effect

probably null
Transcript: ENSMUST00000156529
AA Change: Y176*

SMART Domains

Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990
AA Change: Y176*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214560

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dpep3	C	T	8: 106,704,018 (GRCm39)	A267T	probably benign	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Frmd6	A	G	12: 70,910,830 (GRCm39)	T5A	probably benign	Het
Gnb5	G	A	9: 75,218,752 (GRCm39)	V26I	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psmc3	A	G	2: 90,884,645 (GRCm39)	E18G	probably benign	Het
Psme3	T	G	11: 101,207,872 (GRCm39)	M9R	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Tet2	T	G	3: 133,173,231 (GRCm39)	H1677P	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCCACAGAACCTGAAAGTGTTG -3'
(R):5'- AAACCACCCCGTTGCTCTGAAGTC -3'

Sequencing Primer
(F):5'- CAGAACCTGAAAGTGTTGGGTTG -3'
(R):5'- GCTCTGAAGTCACTCATTTACAG -3'

Posted On

2013-09-30