Mutagenetix > Incidental Mutation

Incidental Mutation 'R6440:Pgap2'

518974

Institutional Source

Beutler Lab

Gene Symbol

Pgap2

Ensembl Gene

ENSMUSG00000030990

Gene Name

post-GPI attachment to proteins 2

Synonyms

1810006G21Rik, clpex, Frag1

MMRRC Submission

044578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101859415-101887774 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 101886594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121521 (fasta)

Gene Model

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

AlphaFold

Q3TQR0

Predicted Effect

probably null
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: 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

SMART Domains

Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990

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

Predicted Effect

probably null
Transcript: ENSMUST00000120879

SMART Domains

Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990

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: ENSMUST00000156529

SMART Domains

Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990

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

noncoding transcript
Transcript: ENSMUST00000150891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143759

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: ENSMUST00000142873

SMART Domains

Protein: ENSMUSP00000121988
Gene: ENSMUSG00000030990

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127804

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: ENSMUST00000129340

SMART Domains

Protein: ENSMUSP00000119692
Gene: ENSMUSG00000030990

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134621

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: ENSMUST00000143541

SMART Domains

Protein: ENSMUSP00000117450
Gene: ENSMUSG00000030990

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133311

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,101,744 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,942,341 (GRCm39)	Q684*	probably null	Het
Ahi1	T	A	10: 20,835,981 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,133,631 (GRCm39)	T1070A	probably damaging	Het
B3gnt9	C	T	8: 105,980,531 (GRCm39)		probably null	Het
C3ar1	G	T	6: 122,827,467 (GRCm39)	A250E	probably damaging	Het
Caprin2	A	G	6: 148,771,143 (GRCm39)	F284L	probably damaging	Het
Cdc25a	T	C	9: 109,710,566 (GRCm39)	I90T	probably benign	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Ces2a	C	T	8: 105,467,954 (GRCm39)	A528V	probably benign	Het
Cyp2c70	T	C	19: 40,145,250 (GRCm39)	N402S	possibly damaging	Het
F3	A	G	3: 121,518,686 (GRCm39)	E50G	probably damaging	Het
Fli1	A	T	9: 32,335,197 (GRCm39)	S412T	probably benign	Het
Flt1	T	A	5: 147,501,115 (GRCm39)	D1306V	possibly damaging	Het
Ggt7	T	C	2: 155,340,731 (GRCm39)	D424G	probably damaging	Het
Grm7	A	T	6: 111,230,981 (GRCm39)	N468I	probably damaging	Het
Htr5a	T	A	5: 28,055,870 (GRCm39)	V287E	probably damaging	Het
Map3k21	T	C	8: 126,637,876 (GRCm39)	V154A	probably damaging	Het
Muc16	A	G	9: 18,552,655 (GRCm39)	V4546A	probably benign	Het
Ncbp1	A	G	4: 46,147,516 (GRCm39)	Y121C	probably damaging	Het
Nckap1l	C	A	15: 103,379,659 (GRCm39)	Y315*	probably null	Het
Ntpcr	T	A	8: 126,471,981 (GRCm39)	S64T	probably damaging	Het
Or1e1c	A	T	11: 73,266,173 (GRCm39)	E202D	probably benign	Het
Or6c215	A	G	10: 129,637,837 (GRCm39)	S186P	probably damaging	Het
Or7e175	T	C	9: 20,048,490 (GRCm39)	F26S	probably damaging	Het
Pate9	T	A	9: 36,453,168 (GRCm39)	M1L	probably benign	Het
Pde4dip	A	G	3: 97,674,902 (GRCm39)	C5R	probably damaging	Het
Pik3r6	T	C	11: 68,424,522 (GRCm39)	W376R	probably benign	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Pms1	T	C	1: 53,234,180 (GRCm39)	K779E	probably damaging	Het
Prss16	A	G	13: 22,187,330 (GRCm39)	V98A	probably damaging	Het
Robo2	C	T	16: 73,713,010 (GRCm39)	D1287N	probably benign	Het
Sgsm1	A	G	5: 113,426,997 (GRCm39)		probably null	Het
Slc40a1	A	T	1: 45,964,422 (GRCm39)	M1K	probably null	Het
Smo	A	G	6: 29,756,813 (GRCm39)	H437R	possibly damaging	Het
Sult3a1	T	C	10: 33,746,198 (GRCm39)	Y173H	possibly damaging	Het
Svep1	T	A	4: 58,116,555 (GRCm39)	R898S	possibly damaging	Het
Synpo2l	A	G	14: 20,718,244 (GRCm39)	V7A	probably damaging	Het
Thsd1	C	T	8: 22,748,569 (GRCm39)	A427V	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,754 (GRCm39)	G164S	probably benign	Het
Zfp235	A	G	7: 23,840,040 (GRCm39)	K153R	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
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
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'- AGCGGCTCTTCGTCATCAAC -3'
(R):5'- TTTCCAGCATCACAGACGG -3'

Sequencing Primer
(F):5'- ACTTCCGGCACAACATGTATTG -3'
(R):5'- CACAGACGGGGTTAGAATCTCTTTTC -3'

Posted On

2018-05-24