Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00559:Prn'

13175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prn

Ensembl Gene

ENSMUSG00000098754

Gene Name

prion protein readthrough transcript

Synonyms

Gm44637, Gm28045

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00559

Quality Score

Status

Chromosome

Chromosomal Location

131751877-131798050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131795335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 152 (V152I)

Ref Sequence

ENSEMBL: ENSMUSP00000122345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110169] [ENSMUST00000110170] [ENSMUST00000110171] [ENSMUST00000110172] [ENSMUST00000124100] [ENSMUST00000136783]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110169
AA Change: V134I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105798
Gene: ENSMUSG00000027338
AA Change: V134I

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: ENSMUST00000110170
AA Change: V134I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105799
Gene: ENSMUSG00000027338
AA Change: V134I

Domain	Start	End	E-Value	Type
Pfam:Doppel	1	30	1.1e-22	PFAM
Pfam:Prion	64	179	1.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110171
AA Change: V134I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105800
Gene: ENSMUSG00000027338
AA Change: V134I

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: ENSMUST00000110172
AA Change: V134I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105801
Gene: ENSMUSG00000027338
AA Change: V134I

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: ENSMUST00000124100
AA Change: V152I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116195
Gene: ENSMUSG00000098754
AA Change: V152I

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
AA Change: V152I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122345
Gene: ENSMUSG00000098754
AA Change: V152I

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Prnp (major prion protein) and Prnd (prion-like protein doppel) genes on chromosome 2. The readthrough transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the presence of an in-frame, upstream AUG compared to the downstream gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cers4	G	A	8: 4,571,216 (GRCm39)	D262N	probably benign	Het
Cyp2d26	G	A	15: 82,675,244 (GRCm39)	A370V	probably benign	Het
Dnah7c	T	C	1: 46,846,449 (GRCm39)	M4000T	possibly damaging	Het
Enkd1	C	T	8: 106,430,974 (GRCm39)		probably benign	Het
H60b	A	G	10: 22,161,692 (GRCm39)	H60R	probably benign	Het
Hmgb4	T	C	4: 128,154,082 (GRCm39)	N162S	probably benign	Het
Htt	T	C	5: 35,006,448 (GRCm39)		probably benign	Het
Kbtbd6	A	G	14: 79,690,688 (GRCm39)	D461G	probably damaging	Het
Nell2	A	G	15: 95,425,166 (GRCm39)	L62P	possibly damaging	Het
Pi4k2b	T	A	5: 52,908,790 (GRCm39)	F205L	probably damaging	Het
Polr1b	G	T	2: 128,955,651 (GRCm39)	V521F	probably damaging	Het
Ryr1	T	C	7: 28,711,667 (GRCm39)		probably benign	Het
Sema3c	G	T	5: 17,899,858 (GRCm39)	G450V	probably damaging	Het
Sema3d	G	A	5: 12,613,189 (GRCm39)	R422K	probably benign	Het
Snw1	T	C	12: 87,515,501 (GRCm39)	D16G	probably damaging	Het
Tas2r121	T	C	6: 132,677,484 (GRCm39)	I163V	probably benign	Het

Other mutations in Prn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7696:Prn	UTSW	2	131,788,365 (GRCm39)	missense	unknown

Posted On

2012-12-06