Mutagenetix > Incidental Mutation

Incidental Mutation 'R8163:Prnp'

633607

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

067589-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R8163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131751848-131780349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131778908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 187 (T187A)

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 benign
Transcript: ENSMUST00000091288
AA Change: T187A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000088833
Gene: ENSMUSG00000079037
AA Change: T187A

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

0.4834

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,304,883 (GRCm39)	I11V	unknown	Het
Ago3	G	T	4: 126,262,377 (GRCm39)	T391K	probably benign	Het
Asap1	A	G	15: 63,963,899 (GRCm39)	W1100R	probably damaging	Het
Bbof1	T	C	12: 84,473,536 (GRCm39)	S289P	possibly damaging	Het
Cd3d	T	C	9: 44,896,952 (GRCm39)	F109L	probably benign	Het
Cebpd	A	T	16: 15,705,841 (GRCm39)	E218V	probably damaging	Het
Cfl1	T	C	19: 5,543,528 (GRCm39)		probably benign	Het
Cpa2	A	C	6: 30,564,350 (GRCm39)	I394L	probably damaging	Het
Ddx50	C	A	10: 62,475,678 (GRCm39)	V348F	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Echs1	A	G	7: 139,692,357 (GRCm39)	V130A	possibly damaging	Het
Eif2s2	A	G	2: 154,734,621 (GRCm39)	S2P	probably benign	Het
Fastk	A	G	5: 24,649,273 (GRCm39)	I38T	probably benign	Het
Fat3	G	A	9: 15,871,055 (GRCm39)	R3779C	probably damaging	Het
Fat4	A	T	3: 39,033,881 (GRCm39)	N2511I	possibly damaging	Het
Fbxw13	G	A	9: 109,012,122 (GRCm39)	T315I	probably benign	Het
Fzd5	A	T	1: 64,774,352 (GRCm39)	Y470N	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gpr25	T	C	1: 136,187,596 (GRCm39)	D339G	probably damaging	Het
Igsf9b	T	A	9: 27,233,907 (GRCm39)		probably null	Het
Il5	T	A	11: 53,614,813 (GRCm39)	M125K	possibly damaging	Het
Iqub	G	A	6: 24,449,714 (GRCm39)	T717I	probably benign	Het
Katnb1	T	C	8: 95,823,014 (GRCm39)	F403S	probably damaging	Het
Krt26	T	C	11: 99,220,498 (GRCm39)	I451V	probably benign	Het
Krt88	T	C	15: 101,351,389 (GRCm39)	L132P	probably damaging	Het
Kynu	G	T	2: 43,518,966 (GRCm39)	G245V	probably damaging	Het
Lap3	C	T	5: 45,669,389 (GRCm39)	R513*	probably null	Het
Lin9	C	T	1: 180,486,691 (GRCm39)	R126W	probably damaging	Het
Lrrc37	A	T	11: 103,506,688 (GRCm39)	I1760K	unknown	Het
Lrrtm2	C	T	18: 35,346,777 (GRCm39)	R175H	probably damaging	Het
N4bp2l2	A	G	5: 150,584,774 (GRCm39)	L60P	probably damaging	Het
Ncr1	T	C	7: 4,343,828 (GRCm39)	F142S	probably damaging	Het
Nktr	TAGAAG	TAG	9: 121,579,929 (GRCm39)		probably benign	Het
Or5b95	A	G	19: 12,657,552 (GRCm39)	I27V	probably benign	Het
Parp16	T	A	9: 65,137,231 (GRCm39)	H152Q	probably damaging	Het
Plaa	C	G	4: 94,457,640 (GRCm39)	V777L	probably benign	Het
Pzp	T	G	6: 128,489,157 (GRCm39)	I485L	probably benign	Het
Rc3h1	T	A	1: 160,782,629 (GRCm39)	Y703N	probably damaging	Het
Rngtt	G	A	4: 33,325,109 (GRCm39)	C110Y	probably damaging	Het
Rps10	G	A	17: 27,853,085 (GRCm39)	R95C	probably benign	Het
Scn9a	T	A	2: 66,314,745 (GRCm39)	I1658F	probably damaging	Het
Sec16a	A	T	2: 26,306,433 (GRCm39)	W702R		Het
Taf6	G	T	5: 138,180,238 (GRCm39)	Q339K	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tmem198	C	T	1: 75,459,671 (GRCm39)	P209S	possibly damaging	Het
Vmn2r78	G	A	7: 86,603,660 (GRCm39)	A613T	probably damaging	Het
Vps13c	G	A	9: 67,857,720 (GRCm39)	E2651K	probably benign	Het
Wdfy4	C	T	14: 32,873,545 (GRCm39)	V255I		Het
Zfhx3	A	G	8: 109,675,925 (GRCm39)	D2325G	probably damaging	Het
Zfp36l2	T	C	17: 84,494,551 (GRCm39)	N29D	possibly damaging	Het
Zfp692	T	A	11: 58,201,199 (GRCm39)		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
R0837:Prnp	UTSW	2	131,778,444 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCAACCTCAAGCATGTGGC -3'
(R):5'- CCTAGACCACGAGAATGCGAAG -3'

Sequencing Primer
(F):5'- CCTTGGTGGCTACATGCTG -3'
(R):5'- TCATCCCACGATCAGGAAGATGAG -3'

Posted On

2020-07-13