Mutagenetix > Incidental Mutation

Incidental Mutation 'R8202:Pigp'

635737

Institutional Source

Beutler Lab

Gene Symbol

Pigp

Ensembl Gene

ENSMUSG00000022940

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class P

Synonyms

Dcrc, Dscr5

MMRRC Submission

067625-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R8202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94159622-94171874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94165528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 204 (N204K)

Ref Sequence

ENSEMBL: ENSMUSP00000109547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113905] [ENSMUST00000113906] [ENSMUST00000113910] [ENSMUST00000113914] [ENSMUST00000113917] [ENSMUST00000138514]

AlphaFold

Q9JHG1

Predicted Effect

probably benign
Transcript: ENSMUST00000113905
AA Change: N131K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940
AA Change: N131K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113906
AA Change: N131K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940
AA Change: N131K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113910
AA Change: N160K

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940
AA Change: N160K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113914
AA Change: N204K

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940
AA Change: N204K

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: ENSMUST00000138514

SMART Domains

Protein: ENSMUSP00000114477
Gene: ENSMUSG00000022940

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (50/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,057 (GRCm39)	R36C	probably benign	Het
B020011L13Rik	A	T	1: 117,728,874 (GRCm39)	H127L	probably damaging	Het
B4galt4	A	G	16: 38,588,274 (GRCm39)	Q306R	probably benign	Het
Bckdha	G	A	7: 25,329,738 (GRCm39)	H431Y	probably damaging	Het
Cacna1e	T	A	1: 154,274,195 (GRCm39)	M2256L	probably benign	Het
Ccar1	A	T	10: 62,607,768 (GRCm39)	F298L	possibly damaging	Het
Ceacam3	G	A	7: 16,896,953 (GRCm39)	A640T		Het
Cers3	A	G	7: 66,435,761 (GRCm39)	D240G	probably damaging	Het
Ces1d	T	C	8: 93,919,495 (GRCm39)	E99G	probably benign	Het
Dnah2	A	G	11: 69,369,649 (GRCm39)	V1609A	probably benign	Het
Fer1l6	T	C	15: 58,502,486 (GRCm39)	F1329S	probably damaging	Het
Fry	A	G	5: 150,355,202 (GRCm39)	Q1825R	probably damaging	Het
Guf1	C	A	5: 69,720,545 (GRCm39)	A335E	possibly damaging	Het
Heatr6	C	A	11: 83,650,234 (GRCm39)	T230K	possibly damaging	Het
Klhl11	G	A	11: 100,354,150 (GRCm39)	S557L	probably benign	Het
Map10	A	G	8: 126,397,647 (GRCm39)	N347D	possibly damaging	Het
Myh7	T	C	14: 55,227,497 (GRCm39)	I313V	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nmral1	G	A	16: 4,532,448 (GRCm39)	T131M	probably damaging	Het
Npr1	T	A	3: 90,368,731 (GRCm39)	Y443F	probably benign	Het
Ntn4	A	G	10: 93,480,765 (GRCm39)	N163S	possibly damaging	Het
Nufip1	A	G	14: 76,348,604 (GRCm39)	I78V	probably benign	Het
Oplah	C	T	15: 76,186,669 (GRCm39)	G670D	probably benign	Het
Or51a24	A	G	7: 103,734,198 (GRCm39)	S30P	probably benign	Het
Or5j3	A	T	2: 86,128,968 (GRCm39)	E269D	probably benign	Het
Or6c69b	T	C	10: 129,626,518 (GRCm39)	*313W	probably null	Het
Pcnx1	T	G	12: 81,941,821 (GRCm39)	I73S	probably benign	Het
Prelid2	T	A	18: 42,065,802 (GRCm39)	I78F	possibly damaging	Het
Ptprb	A	G	10: 116,189,750 (GRCm39)	Y1516C	probably damaging	Het
Rab31	T	C	17: 65,974,881 (GRCm39)	E157G	probably damaging	Het
Rars2	T	C	4: 34,656,180 (GRCm39)	Y445H	probably damaging	Het
Rnf220	T	A	4: 117,347,070 (GRCm39)	H114L	probably damaging	Het
Ryr1	A	G	7: 28,790,457 (GRCm39)	W1450R	probably benign	Het
Slamf6	A	G	1: 171,761,786 (GRCm39)	Y69C	probably benign	Het
Smc3	T	C	19: 53,617,123 (GRCm39)	I512T	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
St3gal3	T	A	4: 117,964,868 (GRCm39)		probably benign	Het
Tbc1d23	A	G	16: 57,011,917 (GRCm39)	F338L	probably damaging	Het
Tgs1	G	A	4: 3,586,097 (GRCm39)	A325T	probably benign	Het
Tmem30a	A	T	9: 79,681,494 (GRCm39)	I261K	probably damaging	Het
Trim3	A	T	7: 105,260,632 (GRCm39)	H662Q	possibly damaging	Het
Unc13c	C	T	9: 73,643,844 (GRCm39)	V1207M	probably damaging	Het
Vmn1r91	A	T	7: 19,835,749 (GRCm39)	I223F	probably damaging	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps13c	T	C	9: 67,851,328 (GRCm39)	V2321A	probably damaging	Het
Zan	G	T	5: 137,387,589 (GRCm39)	T4874K	unknown	Het
Zfp677	T	C	17: 21,613,535 (GRCm39)	L43S	probably damaging	Het
Zfp709	A	G	8: 72,642,760 (GRCm39)		probably null	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
R6179:Pigp	UTSW	16	94,171,226 (GRCm39)	missense	probably null	0.99
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
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'- GCACATATAGATCTACTCAAGGTTGAC -3'
(R):5'- AGCAGTGTGATAGGTCTCAACC -3'

Sequencing Primer
(F):5'- AGGAATCAACTGTCATGTTT -3'
(R):5'- ACCAACCACAGAGCTTTTCTTC -3'

Posted On

2020-07-13