Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Pgap6'

189532

Institutional Source

Beutler Lab

Gene Symbol

Pgap6

Ensembl Gene

ENSMUSG00000024180

Gene Name

post-glycosylphosphatidylinositol attachment to proteins 6

Synonyms

Rxylt1, Tmem8, M83

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26332290-26342228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26337882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 422 (A422V)

Ref Sequence

ENSEMBL: ENSMUSP00000025010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000025014] [ENSMUST00000128597]

AlphaFold

Q9ESN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025010
AA Change: A422V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: A422V

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
EGF	495	531	1.99e1	SMART
Pfam:DUF3522	541	725	1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025014

SMART Domains

Protein: ENSMUSP00000025014
Gene: ENSMUSG00000024181

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L28	77	138	3.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123132

Predicted Effect

probably benign
Transcript: ENSMUST00000128597

SMART Domains

Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180

Domain	Start	End	E-Value	Type
EGF	3	39	1.99e1	SMART
Pfam:DUF3522	47	143	2e-36	PFAM
Pfam:DUF3522	134	194	2.6e-17	PFAM

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	Het

Other mutations in Pgap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Pgap6	APN	17	26,336,493 (GRCm39)	missense	probably damaging	0.96
IGL01014:Pgap6	APN	17	26,335,983 (GRCm39)	unclassified	probably benign
IGL02167:Pgap6	APN	17	26,338,045 (GRCm39)	missense	probably damaging	1.00
IGL02375:Pgap6	APN	17	26,338,473 (GRCm39)	missense	probably benign	0.05
IGL02892:Pgap6	APN	17	26,338,094 (GRCm39)	missense	probably damaging	1.00
IGL02931:Pgap6	APN	17	26,336,923 (GRCm39)	missense	probably benign
IGL03005:Pgap6	APN	17	26,337,911 (GRCm39)	missense	probably benign	0.01
IGL03124:Pgap6	APN	17	26,335,808 (GRCm39)	missense	probably damaging	0.98
IGL03046:Pgap6	UTSW	17	26,338,414 (GRCm39)	splice site	probably null
R0551:Pgap6	UTSW	17	26,339,576 (GRCm39)	missense	probably damaging	1.00
R0555:Pgap6	UTSW	17	26,336,088 (GRCm39)	missense	probably benign	0.19
R1502:Pgap6	UTSW	17	26,339,290 (GRCm39)	missense	possibly damaging	0.82
R1593:Pgap6	UTSW	17	26,337,381 (GRCm39)	missense	possibly damaging	0.63
R1829:Pgap6	UTSW	17	26,341,194 (GRCm39)	missense	probably damaging	1.00
R2071:Pgap6	UTSW	17	26,341,017 (GRCm39)	missense	probably damaging	1.00
R2117:Pgap6	UTSW	17	26,336,858 (GRCm39)	missense	possibly damaging	0.67
R3609:Pgap6	UTSW	17	26,337,860 (GRCm39)	missense	probably benign	0.23
R3610:Pgap6	UTSW	17	26,337,860 (GRCm39)	missense	probably benign	0.23
R4564:Pgap6	UTSW	17	26,336,837 (GRCm39)	missense	possibly damaging	0.80
R4749:Pgap6	UTSW	17	26,335,757 (GRCm39)	missense	probably damaging	1.00
R4777:Pgap6	UTSW	17	26,340,515 (GRCm39)	missense	probably damaging	1.00
R4913:Pgap6	UTSW	17	26,339,513 (GRCm39)	missense	probably damaging	1.00
R5098:Pgap6	UTSW	17	26,337,902 (GRCm39)	missense	probably damaging	1.00
R5126:Pgap6	UTSW	17	26,340,614 (GRCm39)	missense	probably damaging	0.99
R5640:Pgap6	UTSW	17	26,337,846 (GRCm39)	missense	possibly damaging	0.50
R5722:Pgap6	UTSW	17	26,339,536 (GRCm39)	frame shift	probably null
R5723:Pgap6	UTSW	17	26,339,536 (GRCm39)	frame shift	probably null
R5739:Pgap6	UTSW	17	26,339,425 (GRCm39)	missense	probably damaging	1.00
R5927:Pgap6	UTSW	17	26,340,972 (GRCm39)	missense	probably benign	0.34
R6587:Pgap6	UTSW	17	26,340,538 (GRCm39)	missense	probably benign	0.03
R6723:Pgap6	UTSW	17	26,339,610 (GRCm39)	missense	probably damaging	0.96
R7588:Pgap6	UTSW	17	26,341,017 (GRCm39)	missense	probably damaging	1.00
R7621:Pgap6	UTSW	17	26,336,865 (GRCm39)	missense	probably benign	0.00
R7653:Pgap6	UTSW	17	26,339,423 (GRCm39)	missense	probably damaging	1.00
R7771:Pgap6	UTSW	17	26,341,047 (GRCm39)	missense	probably damaging	1.00
R8037:Pgap6	UTSW	17	26,336,509 (GRCm39)	missense	possibly damaging	0.63
R8493:Pgap6	UTSW	17	26,340,931 (GRCm39)	missense	probably damaging	1.00
R8956:Pgap6	UTSW	17	26,339,374 (GRCm39)	missense	possibly damaging	0.89
R9048:Pgap6	UTSW	17	26,340,515 (GRCm39)	missense	probably damaging	1.00
R9574:Pgap6	UTSW	17	26,337,861 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTATCAATAGCATGGGCCAGAAGG -3'
(R):5'- ATACTCAGGACTCTCAGGGCACAC -3'

Sequencing Primer
(F):5'- GACCATGATGAACTTTGGGC -3'
(R):5'- TCTCAGGGCACACAAGCTG -3'

Posted On

2014-05-14