Mutagenetix > Incidental Mutation

Incidental Mutation 'R0837:Prnp'

77978

Institutional Source

Beutler Lab

Gene Symbol

Prnp

Ensembl Gene

ENSMUSG00000079037

Gene Name

prion protein

Synonyms

Sinc, Prn-p, PrPSc, Prn-i, PrPC, CD230, PrP

MMRRC Submission

039016-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R0837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131751848-131780349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131778444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 32 (N32I)

Ref Sequence

ENSEMBL: ENSMUSP00000088833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091288] [ENSMUST00000124100] [ENSMUST00000136783]

AlphaFold

P04925

PDB Structure

PRION PROTEIN DOMAIN PRP(121-231) FROM MOUSE, NMR, 2 MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
mouse prion protein fragment 121-231 [SOLUTION NMR]
Mouse Prion Protein with mutation N174T [SOLUTION NMR]
mouse prion protein with mutations S170N and N174T [SOLUTION NMR]
Mouse Prion Protein (121-231) with Mutation S170N [SOLUTION NMR]
Mouse Prion Protein (121-231) with Mutations Y225A and Y226A [SOLUTION NMR]
Mouse Prion Protein (121-231) with Mutation V166A [SOLUTION NMR]
Mouse Prion Protein (121-231) with mutation D167S [SOLUTION NMR]
Mouse Prion Protein (121-231) with mutations D167S and N173K [SOLUTION NMR]
Mouse prion protein (121-231) containing the substitution Y169G [SOLUTION NMR]
>> 11 additional structures at PDB <<

Predicted Effect

probably damaging
Transcript: ENSMUST00000091288
AA Change: N32I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088833
Gene: ENSMUSG00000079037
AA Change: N32I

Domain	Start	End	E-Value	Type
PRP	23	241	7.26e-181	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124100

SMART Domains

Protein: ENSMUSP00000116195
Gene: ENSMUSG00000098754

Domain	Start	End	E-Value	Type
Pfam:Doppel	1	30	2.5e-22	PFAM
Pfam:Prion	64	179	4.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136783

SMART Domains

Protein: ENSMUSP00000122345
Gene: ENSMUSG00000098754

Domain	Start	End	E-Value	Type
Pfam:Doppel	1	30	2.5e-22	PFAM
Pfam:Prion	64	179	4.4e-54	PFAM

Meta Mutation Damage Score

0.3911

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mutations at this locus affect resistance to scrapie infection and spongiform encephalopathy and/or alter scrapie incubation time. Homozygous mutants also show impaired locomotor coordination and reduced mitochondria numbers with unusual morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,333,375 (GRCm39)		probably benign	Het
4930579C12Rik	A	G	9: 89,050,260 (GRCm39)		noncoding transcript	Het
Adam34	T	A	8: 44,104,537 (GRCm39)	K369N	probably benign	Het
Ap1g1	T	C	8: 110,577,697 (GRCm39)	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,869,351 (GRCm39)	P26S	probably benign	Het
Cacna1c	A	T	6: 118,607,231 (GRCm39)	C1224*	probably null	Het
Cpsf2	C	T	12: 101,963,501 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,490 (GRCm39)	R210W	probably damaging	Het
Dock7	C	T	4: 98,877,495 (GRCm39)	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979 (GRCm39)	A2908S	probably benign	Het
Elane	A	G	10: 79,722,942 (GRCm39)	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,383,714 (GRCm39)	R153C	probably damaging	Het
Gucy2c	G	A	6: 136,699,418 (GRCm39)	P617L	probably damaging	Het
H2ac21	G	A	3: 96,127,439 (GRCm39)	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,604,058 (GRCm39)	I106L	probably benign	Het
Man2b1	A	G	8: 85,823,458 (GRCm39)	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,097,443 (GRCm39)	E100G	probably damaging	Het
Mto1	A	T	9: 78,381,072 (GRCm39)	I639F	probably damaging	Het
Myo15a	A	G	11: 60,378,077 (GRCm39)	E177G	probably damaging	Het
Naip5	T	A	13: 100,367,251 (GRCm39)	M282L	probably benign	Het
Or10aa1	A	G	1: 173,870,053 (GRCm39)	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,903,425 (GRCm39)		probably benign	Het
Prl7d1	T	A	13: 27,898,321 (GRCm39)	M64L	probably benign	Het
Ptpn11	C	T	5: 121,287,174 (GRCm39)	V406I	probably benign	Het
Rab40c	G	A	17: 26,103,667 (GRCm39)	T151I	probably damaging	Het
Rb1cc1	T	A	1: 6,304,495 (GRCm39)		probably null	Het
Rnf145	T	C	11: 44,415,815 (GRCm39)	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,711,036 (GRCm39)	N70S	probably damaging	Het
Scaper	A	T	9: 55,766,326 (GRCm39)	C483*	probably null	Het
Sema4a	T	A	3: 88,360,405 (GRCm39)	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,249,067 (GRCm39)		probably null	Het
Sycp1	G	T	3: 102,822,561 (GRCm39)	N364K	probably benign	Het
Tenm4	T	C	7: 96,545,482 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,417,141 (GRCm39)	T537A	probably damaging	Het
Trappc12	A	G	12: 28,753,596 (GRCm39)	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,559,632 (GRCm39)	T420I	probably damaging	Het
Ulk1	A	T	5: 110,937,411 (GRCm39)		probably benign	Het
Unc80	G	A	1: 66,688,103 (GRCm39)	C2367Y	possibly damaging	Het
Usp7	C	A	16: 8,521,366 (GRCm39)	G135C	probably damaging	Het
Vmn2r103	A	G	17: 20,014,189 (GRCm39)	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,491,026 (GRCm39)	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,089,506 (GRCm39)	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,081,242 (GRCm39)	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850 (GRCm39)	Y638*	probably null	Het

Other mutations in Prnp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Prnp	APN	2	131,779,031 (GRCm39)	missense	probably benign
IGL01081:Prnp	APN	2	131,778,340 (GRCm39)	intron	probably benign
IGL01820:Prnp	APN	2	131,778,990 (GRCm39)	missense	probably benign	0.05
R2303:Prnp	UTSW	2	131,779,046 (GRCm39)	missense	probably benign	0.00
R5214:Prnp	UTSW	2	131,778,924 (GRCm39)	missense	probably damaging	1.00
R5562:Prnp	UTSW	2	131,778,951 (GRCm39)	missense	probably damaging	1.00
R6859:Prnp	UTSW	2	131,778,708 (GRCm39)	missense	possibly damaging	0.93
R7589:Prnp	UTSW	2	131,778,786 (GRCm39)	missense	probably benign	0.22
R8163:Prnp	UTSW	2	131,778,908 (GRCm39)	missense	probably benign	0.01
R8420:Prnp	UTSW	2	131,778,669 (GRCm39)	missense	probably benign	0.00
R9501:Prnp	UTSW	2	131,779,037 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GACCTTCAGCCTAAATACTGGGCAC -3'
(R):5'- GTTTTCACGGTAGTAGCGGTCCTC -3'

Sequencing Primer
(F):5'- ATACTGGGCACTGATACCTTG -3'
(R):5'- TCCCAGTCGTTGCCAAAATG -3'

Posted On

2013-10-16