Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Pvr'

104429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pvr

Ensembl Gene

ENSMUSG00000040511

Gene Name

poliovirus receptor

Synonyms

CD155, D7Ertd458e, mE4, necl-5, Taa1, Tage4

Accession Numbers

Genbank: NM_027514 ; MGI: 107741

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

19903578-19921160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19909232 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 359 (A359S)

Ref Sequence

ENSEMBL: ENSMUSP00000039205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043517]

Predicted Effect

probably benign
Transcript: ENSMUST00000043517
AA Change: A359S

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039205
Gene: ENSMUSG00000040511
AA Change: A359S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	35	142	1.58e-10	SMART
Pfam:C2-set_2	145	231	2e-18	PFAM
Pfam:C1-set	160	233	1.3e-5	PFAM
IG_like	254	334	6.75e1	SMART
transmembrane domain	348	370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208861

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for one null allele have a reduced antibody response to oral immunization. Mice homozygous for a different null allele exhibit reduced susceptibility to chemically induced colon cancer. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Pvr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Pvr	APN	7	19914859	missense	probably damaging	1.00
IGL02536:Pvr	APN	7	19918792	missense	probably benign	0.17
F2404:Pvr	UTSW	7	19905177	missense	probably benign	0.06
R1016:Pvr	UTSW	7	19909217	missense	probably benign
R1470:Pvr	UTSW	7	19918624	missense	possibly damaging	0.51
R1470:Pvr	UTSW	7	19918624	missense	possibly damaging	0.51
R1525:Pvr	UTSW	7	19910626	nonsense	probably null
R2138:Pvr	UTSW	7	19917002	missense	probably damaging	1.00
R3912:Pvr	UTSW	7	19909292	missense	probably benign	0.01
R6667:Pvr	UTSW	7	19905802	missense	probably benign	0.07
R6724:Pvr	UTSW	7	19918679	missense	possibly damaging	0.95
R6855:Pvr	UTSW	7	19909214	missense	possibly damaging	0.92
R6866:Pvr	UTSW	7	19918630	missense	probably benign	0.01
R7030:Pvr	UTSW	7	19905180	missense	possibly damaging	0.84
R7158:Pvr	UTSW	7	19918637	nonsense	probably null
R7352:Pvr	UTSW	7	19910616	missense	possibly damaging	0.81
X0025:Pvr	UTSW	7	19910652	missense	probably benign	0.38

Posted On

2014-01-21