Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00742:Pvr'

13232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pvr

Ensembl Gene

ENSMUSG00000040511

Gene Name

poliovirus receptor

Synonyms

necl-5, CD155, 3830421F03Rik, Tage4, mE4, Taa1, D7Ertd458e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00742

Quality Score

Status

Chromosome

Chromosomal Location

19637503-19655068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19648784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 244 (P244S)

Ref Sequence

ENSEMBL: ENSMUSP00000039205 (fasta)

Gene Model

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

AlphaFold

Q8K094

Predicted Effect

probably damaging
Transcript: ENSMUST00000043517
AA Change: P244S

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

SMART Domains

Protein: ENSMUSP00000039205
Gene: ENSMUSG00000040511
AA Change: P244S

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: ENSMUST00000159261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160572

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	T	15: 76,473,300 (GRCm39)	A50S	possibly damaging	Het
Adgrg2	C	T	X: 159,271,715 (GRCm39)	T778M	probably damaging	Het
Aimp1	G	A	3: 132,377,742 (GRCm39)	Q208*	probably null	Het
Auh	T	C	13: 52,992,138 (GRCm39)	E210G	probably damaging	Het
Cdh20	T	G	1: 109,993,356 (GRCm39)	N270K	probably benign	Het
Chrna9	A	G	5: 66,128,458 (GRCm39)	E218G	probably benign	Het
Cntn5	G	T	9: 9,976,302 (GRCm39)	T214K	probably damaging	Het
Col11a1	A	T	3: 113,917,964 (GRCm39)	D766V	unknown	Het
Ddb1	A	G	19: 10,588,124 (GRCm39)	N203S	probably benign	Het
Eefsec	A	T	6: 88,353,261 (GRCm39)	L136Q	possibly damaging	Het
Hdac6	T	C	X: 7,797,568 (GRCm39)	D1019G	probably benign	Het
Ift88	T	A	14: 57,718,843 (GRCm39)		probably benign	Het
Igf1r	T	A	7: 67,839,771 (GRCm39)	C693S	probably benign	Het
Il18r1	T	A	1: 40,520,151 (GRCm39)	S181T	probably benign	Het
Krt35	T	C	11: 99,984,785 (GRCm39)	Q291R	probably damaging	Het
Krt81	G	A	15: 101,358,159 (GRCm39)	R365C	probably benign	Het
Lpgat1	A	G	1: 191,492,321 (GRCm39)	E269G	probably benign	Het
Lpin3	A	G	2: 160,735,918 (GRCm39)	D66G	probably damaging	Het
Map9	T	C	3: 82,270,727 (GRCm39)	V97A	probably benign	Het
Mcm3ap	A	G	10: 76,328,769 (GRCm39)	E1129G	probably damaging	Het
Mmrn1	A	T	6: 60,935,104 (GRCm39)	H200L	probably damaging	Het
Mycbp2	A	G	14: 103,438,788 (GRCm39)	L2031S	probably damaging	Het
Nfatc1	C	T	18: 80,741,229 (GRCm39)	R243H	probably benign	Het
Omg	T	A	11: 79,394,739 (GRCm39)		probably benign	Het
Or51ah3	A	T	7: 103,210,563 (GRCm39)	Y293F	probably damaging	Het
Postn	T	A	3: 54,280,315 (GRCm39)	N413K	possibly damaging	Het
Ppp1r3a	T	C	6: 14,718,608 (GRCm39)	T769A	probably benign	Het
Rabl6	T	C	2: 25,478,699 (GRCm39)	E244G	probably damaging	Het
Satb2	A	T	1: 56,870,700 (GRCm39)	N428K	possibly damaging	Het
Svopl	A	G	6: 38,007,952 (GRCm39)		probably null	Het
Synpo2	G	T	3: 122,907,525 (GRCm39)	P597Q	probably damaging	Het
Tacc3	T	A	5: 33,818,578 (GRCm39)	H4Q	possibly damaging	Het
Ugt2b5	C	T	5: 87,275,673 (GRCm39)	G393S	probably damaging	Het
Vmn2r5	A	G	3: 64,398,834 (GRCm39)	I715T	possibly damaging	Het

Other mutations in Pvr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Pvr	APN	7	19,643,157 (GRCm39)	missense	probably benign	0.11
IGL02536:Pvr	APN	7	19,652,717 (GRCm39)	missense	probably benign	0.17
F2404:Pvr	UTSW	7	19,639,102 (GRCm39)	missense	probably benign	0.06
R1016:Pvr	UTSW	7	19,643,142 (GRCm39)	missense	probably benign
R1470:Pvr	UTSW	7	19,652,549 (GRCm39)	missense	possibly damaging	0.51
R1470:Pvr	UTSW	7	19,652,549 (GRCm39)	missense	possibly damaging	0.51
R1525:Pvr	UTSW	7	19,644,551 (GRCm39)	nonsense	probably null
R2138:Pvr	UTSW	7	19,650,927 (GRCm39)	missense	probably damaging	1.00
R3912:Pvr	UTSW	7	19,643,217 (GRCm39)	missense	probably benign	0.01
R6667:Pvr	UTSW	7	19,639,727 (GRCm39)	missense	probably benign	0.07
R6724:Pvr	UTSW	7	19,652,604 (GRCm39)	missense	possibly damaging	0.95
R6855:Pvr	UTSW	7	19,643,139 (GRCm39)	missense	possibly damaging	0.92
R6866:Pvr	UTSW	7	19,652,555 (GRCm39)	missense	probably benign	0.01
R7030:Pvr	UTSW	7	19,639,105 (GRCm39)	missense	possibly damaging	0.84
R7158:Pvr	UTSW	7	19,652,562 (GRCm39)	nonsense	probably null
R7352:Pvr	UTSW	7	19,644,541 (GRCm39)	missense	possibly damaging	0.81
R8853:Pvr	UTSW	7	19,650,897 (GRCm39)	missense	possibly damaging	0.89
R9084:Pvr	UTSW	7	19,650,937 (GRCm39)	missense	possibly damaging	0.73
R9720:Pvr	UTSW	7	19,643,121 (GRCm39)	nonsense	probably null
X0025:Pvr	UTSW	7	19,644,577 (GRCm39)	missense	probably benign	0.38

Posted On

2012-12-06