Mutagenetix > Incidental Mutation

Incidental Mutation 'R6179:Pigp'

487956

Institutional Source

Beutler Lab

Gene Symbol

Pigp

Ensembl Gene

ENSMUSG00000022940

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class P

Synonyms

Dcrc, Dscr5

MMRRC Submission

044321-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R6179 (G1)

Quality Score

183.009

Status

Not validated

Chromosome

Chromosomal Location

94159622-94171874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94171226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 22 (R22G)

Ref Sequence

ENSEMBL: ENSMUSP00000109543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113905] [ENSMUST00000113906] [ENSMUST00000113910] [ENSMUST00000113914] [ENSMUST00000113917] [ENSMUST00000117648] [ENSMUST00000119131] [ENSMUST00000147352] [ENSMUST00000147046] [ENSMUST00000145883] [ENSMUST00000145432] [ENSMUST00000138514] [ENSMUST00000143145] [ENSMUST00000139513] [ENSMUST00000122895] [ENSMUST00000141856] [ENSMUST00000149885] [ENSMUST00000150346] [ENSMUST00000152117] [ENSMUST00000153062] [ENSMUST00000153988] [ENSMUST00000232294] [ENSMUST00000231569] [ENSMUST00000151770] [ENSMUST00000150097] [ENSMUST00000155692] [ENSMUST00000154243]

AlphaFold

Q9JHG1

Predicted Effect

probably benign
Transcript: ENSMUST00000113905

SMART Domains

Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113906

SMART Domains

Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113910
AA Change: R22G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940
AA Change: R22G

Domain	Start	End	E-Value	Type
Pfam:PIG-P	39	154	1.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113914

SMART Domains

Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
Pfam:PIG-P	84	197	1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113917

SMART Domains

Protein: ENSMUSP00000109550
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	43	135	5.6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117648

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	2e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1170	1190	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1278	1291	N/A	INTRINSIC
coiled coil region	1472	1570	N/A	INTRINSIC
low complexity region	1876	1887	N/A	INTRINSIC
RING	1931	1970	7e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119131

SMART Domains

Protein: ENSMUSP00000113311
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_11	229	285	1.1e-12	PFAM
Pfam:TPR_1	232	264	2.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130960

Predicted Effect

probably benign
Transcript: ENSMUST00000147352

SMART Domains

Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	213	246	3.61e-2	SMART
TPR	247	280	3.32e-1	SMART
Blast:TPR	282	314	3e-12	BLAST
low complexity region	426	441	N/A	INTRINSIC
TPR	558	591	2.55e-2	SMART
low complexity region	702	714	N/A	INTRINSIC
coiled coil region	747	778	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147046

SMART Domains

Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
Pfam:TPR_1	175	206	5.3e-6	PFAM
low complexity region	319	331	N/A	INTRINSIC
low complexity region	359	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145883

SMART Domains

Protein: ENSMUSP00000123442
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
transmembrane domain	42	64	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145432

Predicted Effect

probably benign
Transcript: ENSMUST00000138514

SMART Domains

Protein: ENSMUSP00000114477
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	43	152	1.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143145

Predicted Effect

probably benign
Transcript: ENSMUST00000127667

SMART Domains

Protein: ENSMUSP00000122425
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_11	22	89	4.7e-16	PFAM
Pfam:TPR_2	24	57	5.7e-4	PFAM
Pfam:TPR_1	25	57	3.5e-5	PFAM
Pfam:TPR_9	35	103	3.2e-6	PFAM
Pfam:TPR_1	58	89	2.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139513

SMART Domains

Protein: ENSMUSP00000117881
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122895

SMART Domains

Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	213	246	3.61e-2	SMART
TPR	247	280	3.32e-1	SMART
Blast:TPR	282	314	3e-12	BLAST
low complexity region	426	441	N/A	INTRINSIC
TPR	558	591	2.55e-2	SMART
low complexity region	702	714	N/A	INTRINSIC
coiled coil region	747	778	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141856

SMART Domains

Protein: ENSMUSP00000117369
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_1	90	121	1e-6	PFAM
Pfam:TPR_2	90	121	7.9e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151192

Predicted Effect

probably benign
Transcript: ENSMUST00000149885

SMART Domains

Protein: ENSMUSP00000122006
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_2	1	31	3.5e-4	PFAM
Pfam:TPR_11	1	58	7.8e-16	PFAM
Pfam:TPR_1	2	31	1.8e-5	PFAM
Pfam:TPR_9	9	58	2.5e-6	PFAM
Pfam:TPR_17	20	53	4.2e-7	PFAM
Pfam:TPR_1	32	58	2.5e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150346

SMART Domains

Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
Pfam:TPR_1	175	206	9.6e-6	PFAM
low complexity region	319	331	N/A	INTRINSIC
coiled coil region	364	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152117

SMART Domains

Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
SCOP:d1ihga1	69	201	6e-8	SMART
Blast:TPR	175	208	1e-14	BLAST
low complexity region	319	331	N/A	INTRINSIC
coiled coil region	364	395	N/A	INTRINSIC
low complexity region	617	631	N/A	INTRINSIC
low complexity region	635	649	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153062

Predicted Effect

probably benign
Transcript: ENSMUST00000153988

SMART Domains

Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Blast:TPR	1	22	3e-6	BLAST
low complexity region	134	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232294

Predicted Effect

probably benign
Transcript: ENSMUST00000231569

Predicted Effect

probably benign
Transcript: ENSMUST00000151770

SMART Domains

Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	3e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150097

SMART Domains

Protein: ENSMUSP00000119035
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Blast:TPR	1	22	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155692

SMART Domains

Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	250	283	3.61e-2	SMART
TPR	284	317	3.32e-1	SMART
Blast:TPR	319	351	3e-12	BLAST
low complexity region	463	478	N/A	INTRINSIC
TPR	595	628	2.55e-2	SMART
low complexity region	739	751	N/A	INTRINSIC
coiled coil region	784	815	N/A	INTRINSIC
low complexity region	1037	1051	N/A	INTRINSIC
low complexity region	1055	1069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154243

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,653 (GRCm39)		probably benign	Het
4930590J08Rik	T	C	6: 91,919,311 (GRCm39)	S657P	probably damaging	Het
Abca9	T	C	11: 110,025,080 (GRCm39)	I988V	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Aox4	T	A	1: 58,270,662 (GRCm39)	D280E	probably benign	Het
Apob	T	A	12: 8,055,060 (GRCm39)	L1353*	probably null	Het
Atp2b1	C	T	10: 98,858,691 (GRCm39)	R222C	probably damaging	Het
AW209491	T	G	13: 14,811,668 (GRCm39)	S174A	possibly damaging	Het
B930094E09Rik	G	C	18: 31,742,911 (GRCm39)		probably benign	Het
Cbln3	G	T	14: 56,121,517 (GRCm39)	P43Q	possibly damaging	Het
Ccdc181	A	T	1: 164,107,487 (GRCm39)	T57S	probably benign	Het
Ccr2	A	C	9: 123,906,008 (GRCm39)	N96T	probably damaging	Het
Cep131	T	C	11: 119,956,837 (GRCm39)	I868V	probably benign	Het
Chd2	A	G	7: 73,094,071 (GRCm39)	I1535T	probably damaging	Het
Chl1	A	T	6: 103,660,204 (GRCm39)	T377S	probably benign	Het
Cpeb3	A	G	19: 37,065,853 (GRCm39)	F439L	probably damaging	Het
Crb2	T	C	2: 37,680,269 (GRCm39)	V399A	probably damaging	Het
Cry2	C	T	2: 92,244,187 (GRCm39)	G329R	probably damaging	Het
Dock4	A	G	12: 40,781,868 (GRCm39)	E691G	probably benign	Het
Edil3	A	T	13: 88,970,108 (GRCm39)	H3L	probably benign	Het
Endod1	T	C	9: 14,268,757 (GRCm39)	I243V	probably benign	Het
Fpr3	G	A	17: 18,190,919 (GRCm39)	W63*	probably null	Het
Gtse1	T	G	15: 85,753,158 (GRCm39)	N424K	possibly damaging	Het
Kcnt1	G	A	2: 25,783,192 (GRCm39)	V252M	probably damaging	Het
Kifbp	G	A	10: 62,399,029 (GRCm39)	Q130*	probably null	Het
Lmbrd2	T	G	15: 9,149,262 (GRCm39)	I48M	probably damaging	Het
Lrrc7	T	G	3: 158,059,069 (GRCm39)	I13L	probably damaging	Het
Mbd4	A	G	6: 115,822,386 (GRCm39)	S408P	probably benign	Het
Mphosph10	A	G	7: 64,028,529 (GRCm39)	V542A	possibly damaging	Het
Msto1	C	A	3: 88,818,254 (GRCm39)	R331L	probably damaging	Het
Myh10	G	A	11: 68,692,979 (GRCm39)	E1425K	probably damaging	Het
Nup43	T	C	10: 7,554,437 (GRCm39)	I340T	probably benign	Het
Or1j4	T	C	2: 36,740,846 (GRCm39)	S263P	possibly damaging	Het
Pcm1	T	A	8: 41,736,669 (GRCm39)	M884K	probably damaging	Het
Phf20	T	A	2: 156,140,573 (GRCm39)	L749H	probably damaging	Het
Polr2b	T	C	5: 77,468,824 (GRCm39)	M200T	probably damaging	Het
Ppig	T	A	2: 69,580,471 (GRCm39)	D668E	unknown	Het
Prss3	G	A	6: 41,352,060 (GRCm39)	R68C	probably benign	Het
Retreg3	G	A	11: 100,994,721 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,006,630 (GRCm39)	F2116L	possibly damaging	Het
Spg21	T	C	9: 65,376,090 (GRCm39)	S33P	possibly damaging	Het
Spns3	A	G	11: 72,390,349 (GRCm39)	S432P	probably damaging	Het
Stra6	A	G	9: 58,042,452 (GRCm39)	E27G	probably damaging	Het
Tanc1	A	G	2: 59,673,320 (GRCm39)	Q1468R	probably benign	Het
Tbce	T	G	13: 14,194,362 (GRCm39)	E99A	probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trim10	A	G	17: 37,187,923 (GRCm39)	T380A	probably damaging	Het
Trim31	T	A	17: 37,220,501 (GRCm39)	D472E	probably damaging	Het
Vmn2r28	G	A	7: 5,491,003 (GRCm39)	Q415*	probably null	Het
Vwf	G	A	6: 125,626,252 (GRCm39)	C7Y	unknown	Het
Yeats2	C	T	16: 20,033,225 (GRCm39)	P1088L	probably benign	Het
Zfp40	C	A	17: 23,397,354 (GRCm39)	V48L	possibly damaging	Het

Other mutations in Pigp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02100:Pigp	APN	16	94,165,626 (GRCm39)	nonsense	probably null
IGL02728:Pigp	APN	16	94,168,466 (GRCm39)	missense	probably damaging	1.00
schweinchen	UTSW	16	94,166,300 (GRCm39)	missense	probably damaging	1.00
R0092:Pigp	UTSW	16	94,166,321 (GRCm39)	missense	probably damaging	0.96
R3614:Pigp	UTSW	16	94,165,583 (GRCm39)	missense	possibly damaging	0.91
R4872:Pigp	UTSW	16	94,166,309 (GRCm39)	missense	probably benign	0.18
R4959:Pigp	UTSW	16	94,160,006 (GRCm39)	missense	probably benign	0.00
R4973:Pigp	UTSW	16	94,160,006 (GRCm39)	missense	probably benign	0.00
R5970:Pigp	UTSW	16	94,171,053 (GRCm39)	critical splice acceptor site	probably null
R6135:Pigp	UTSW	16	94,171,065 (GRCm39)	missense	probably benign	0.20
R6732:Pigp	UTSW	16	94,166,300 (GRCm39)	missense	probably damaging	1.00
R7576:Pigp	UTSW	16	94,171,264 (GRCm39)	missense	probably benign	0.40
R8202:Pigp	UTSW	16	94,165,528 (GRCm39)	missense	probably benign	0.43
R9234:Pigp	UTSW	16	94,165,522 (GRCm39)	makesense	probably null
R9645:Pigp	UTSW	16	94,166,278 (GRCm39)	nonsense	probably null
R9768:Pigp	UTSW	16	94,166,332 (GRCm39)	missense	probably damaging	1.00
Z1177:Pigp	UTSW	16	94,171,554 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGACGGTGAATTTTCCACC -3'
(R):5'- CTGCGCATTGGACTGAGTGG -3'

Sequencing Primer
(F):5'- CCCTGTGGCTTTAGACAATCTGTG -3'
(R):5'- ATTGGACTGAGTGGGGCTGAAG -3'

Posted On

2017-10-10