Mutagenetix > Incidental Mutations

Incidental Mutation 'R6866:Pvr'

535920

Institutional Source

Beutler Lab

Gene Symbol

Pvr

Ensembl Gene

ENSMUSG00000040511

Gene Name

poliovirus receptor

Synonyms

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

MMRRC Submission

Accession Numbers

Genbank: NM_027514 ; MGI: 107741

Is this an essential gene?

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

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19903578-19921160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 19918630 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 120 (I120S)

Ref Sequence

ENSEMBL: ENSMUSP00000039205 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043517
AA Change: I120S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000039205
Gene: ENSMUSG00000040511
AA Change: I120S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	ACTGCACCACCT	ACT	10: 43,532,725		probably benign	Het
Alms1	A	G	6: 85,621,098	T1438A	possibly damaging	Het
Als2	T	A	1: 59,211,133	Q484L	probably damaging	Het
Apeh	G	A	9: 108,092,679	H186Y	probably damaging	Het
BC051142	T	A	17: 34,459,961	C216S	possibly damaging	Het
Bcl2l13	T	A	6: 120,862,889	N49K	probably benign	Het
Bptf	T	C	11: 107,073,580	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,706,407	M325T	probably damaging	Het
C87499	T	A	4: 88,627,740	D455V	probably damaging	Het
Caly	T	C	7: 140,070,619	M137V	probably benign	Het
Cdca2	T	C	14: 67,693,666	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,407,745	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,092,294	T381P	probably benign	Het
Cr2	T	A	1: 195,151,691	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,719,529	N120S	probably benign	Het
Cyfip2	G	A	11: 46,242,459	R805*	probably null	Het
Dnah7c	C	A	1: 46,657,243	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,977,226	E110G	possibly damaging	Het
Extl2	A	G	3: 116,027,352	M283V	probably damaging	Het
Extl2	T	A	3: 116,027,353	M283K	probably damaging	Het
Focad	T	C	4: 88,403,386	I1658T	probably benign	Het
Fstl5	A	T	3: 76,322,225	H111L	probably damaging	Het
Garnl3	A	G	2: 33,002,773		probably null	Het
Gm3633	T	A	14: 42,640,622		probably benign	Het
Il4i1	T	A	7: 44,836,539		probably null	Het
Kcnj6	A	T	16: 94,762,677	C321S	probably damaging	Het
Kif20a	A	T	18: 34,628,493	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,857,393		probably benign	Het
Kynu	T	A	2: 43,563,110	Y48*	probably null	Het
Ly9	T	C	1: 171,605,279	I55M	probably damaging	Het
Mgme1	T	C	2: 144,276,519	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800	L27H	probably benign	Het
Myh1	A	C	11: 67,224,393	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,140,688	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,426,468	I718T	probably benign	Het
Nptx1	A	G	11: 119,546,650		probably null	Het
Olfr180	A	G	16: 58,915,988	Y218H	probably damaging	Het
Olfr502	A	G	7: 108,523,170	F260S	probably damaging	Het
Olfr682-ps1	T	A	7: 105,126,618	M228L	probably benign	Het
Phc3	T	A	3: 30,914,531	K783*	probably null	Het
Pkdrej	A	T	15: 85,820,881	C285S	probably damaging	Het
Pot1b	T	A	17: 55,653,474	T619S	possibly damaging	Het
Psg21	A	T	7: 18,652,284	V259E	probably damaging	Het
Rbm17	T	G	2: 11,598,090	I68L	probably benign	Het
Rnf138	C	T	18: 21,002,142	P28L	probably damaging	Het
Rnf207	C	T	4: 152,312,532	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,770,233	V255G	probably benign	Het
Slc25a3	A	T	10: 91,119,705	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,638,481	D896G	probably benign	Het
Slc27a5	T	A	7: 12,997,516	T183S	probably benign	Het
Slc33a1	A	T	3: 63,943,323	F527I	probably benign	Het
Strn4	A	T	7: 16,828,785	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,586,766	T107I	probably damaging	Het
Tango6	G	A	8: 106,742,472		probably null	Het
Tecrl	G	T	5: 83,313,314	P99T	probably damaging	Het
Ticrr	T	C	7: 79,693,957	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,305,945	R349H	probably damaging	Het
Tjp2	A	G	19: 24,101,991	I840T	probably damaging	Het
Tmem173	T	C	18: 35,739,429	H50R	probably damaging	Het
Tmem45a2	T	A	16: 57,047,023	N105I	probably damaging	Het
Zfp148	T	A	16: 33,468,126	C162S	probably damaging	Het
Zfp534	T	C	4: 147,674,481	K577R	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
IGL01700:Pvr	APN	7	19909232	missense	probably benign	0.11
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAACAAATGGAGGACATGTC -3'
(R):5'- GACCACCTTGCACTGTAGTC -3'

Sequencing Primer
(F):5'- ATGTCATGTCCCAAGGGCATC -3'
(R):5'- GCACTGTAGTCTGACTTCTAATGAG -3'

Posted On

2018-10-18