Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Ifnar2'

342927

Institutional Source

Beutler Lab

Gene Symbol

Ifnar2

Ensembl Gene

ENSMUSG00000022971

Gene Name

interferon (alpha and beta) receptor 2

Synonyms

Ifnar-2

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91169671-91202477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91188684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 55 (V55A)

Ref Sequence

ENSEMBL: ENSMUSP00000134796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000117836] [ENSMUST00000134491] [ENSMUST00000139503]

AlphaFold

O35664

Predicted Effect

probably benign
Transcript: ENSMUST00000023693
AA Change: V157A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: V157A

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	118	8.9e-18	PFAM
Pfam:Interfer-bind	132	231	9.2e-19	PFAM
low complexity region	315	326	N/A	INTRINSIC
low complexity region	361	389	N/A	INTRINSIC
low complexity region	476	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089042
AA Change: V157A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971
AA Change: V157A

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	118	2.9e-18	PFAM
Pfam:Interfer-bind	132	231	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117836
AA Change: V157A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113358
Gene: ENSMUSG00000022971
AA Change: V157A

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	118	2.9e-18	PFAM
Pfam:Interfer-bind	132	231	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134491
AA Change: V55A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134796
Gene: ENSMUSG00000022971
AA Change: V55A

Domain	Start	End	E-Value	Type
Pfam:Interfer-bind	30	117	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139503

Predicted Effect

unknown
Transcript: ENSMUST00000160764
AA Change: V25A

SMART Domains

Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: V25A

Domain	Start	End	E-Value	Type
FN3	2	92	5.1e1	SMART
FN3	110	187	9.09e0	SMART
FN3	201	291	1.39e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000161517
AA Change: V25A

SMART Domains

Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701
AA Change: V25A

Domain	Start	End	E-Value	Type
Pfam:Interfer-bind	1	100	7.5e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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 type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with mutations of this gene have defects in immune responses involving, variously, NK cells, CD4+ and CD8+ T cells and B cells in response to induced and transplanted tumors, viruses, and double stranded DNA. These defects include diminished secretion of type I and type II interferons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,164 (GRCm39)	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,388,629 (GRCm39)	V521A	possibly damaging	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
Casp12	T	C	9: 5,352,923 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,411,230 (GRCm39)	T318M	probably damaging	Het
Cfap119	C	T	7: 127,184,663 (GRCm39)	R172H	probably benign	Het
Clcn2	T	C	16: 20,527,892 (GRCm39)	K525E	probably damaging	Het
Cntln	A	G	4: 84,889,419 (GRCm39)	T301A	probably benign	Het
Crat	T	C	2: 30,305,378 (GRCm39)		probably benign	Het
Cul5	A	G	9: 53,545,027 (GRCm39)		probably benign	Het
Cxcl14	A	T	13: 56,443,708 (GRCm39)	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,470,819 (GRCm39)	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,386,690 (GRCm39)	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,063,824 (GRCm39)	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,296,963 (GRCm39)	F169S	probably damaging	Het
Ddx52	T	C	11: 83,848,306 (GRCm39)	I532T	probably damaging	Het
Dnm1	T	C	2: 32,226,023 (GRCm39)	D352G	probably damaging	Het
Eif4g2	T	C	7: 110,677,509 (GRCm39)	E174G	probably damaging	Het
Enpp6	G	T	8: 47,546,067 (GRCm39)	V386L	probably damaging	Het
Entr1	C	A	2: 26,278,909 (GRCm39)		probably benign	Het
Eps15l1	T	C	8: 73,095,238 (GRCm39)	D904G	probably damaging	Het
Esrrb	A	G	12: 86,565,604 (GRCm39)	Y356C	probably damaging	Het
Flt3	A	T	5: 147,291,509 (GRCm39)	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,766,218 (GRCm39)	C716S	probably damaging	Het
Gm26996	T	A	6: 130,556,448 (GRCm39)		noncoding transcript	Het
Grik2	A	T	10: 49,298,711 (GRCm39)	F50I	possibly damaging	Het
Guf1	T	C	5: 69,723,786 (GRCm39)	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Impg1	T	A	9: 80,322,907 (GRCm39)	I33F	probably benign	Het
Ltbp4	A	C	7: 27,024,608 (GRCm39)	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,947,772 (GRCm39)	L529H	probably damaging	Het
Negr1	T	C	3: 156,914,023 (GRCm39)		probably benign	Het
Neurog3	A	G	10: 61,969,599 (GRCm39)	T25A	probably damaging	Het
Or10v1	T	C	19: 11,874,126 (GRCm39)	V247A	probably benign	Het
Or4a69	T	A	2: 89,313,100 (GRCm39)	K126N	probably damaging	Het
Or51h1	A	C	7: 102,308,685 (GRCm39)	Y219S	probably damaging	Het
Or5k17	T	C	16: 58,746,455 (GRCm39)	T160A	probably benign	Het
Pax8	T	A	2: 24,333,201 (GRCm39)		probably benign	Het
Pcsk6	A	C	7: 65,581,480 (GRCm39)	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,404,942 (GRCm39)	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,852,996 (GRCm39)		probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rptor	A	G	11: 119,689,666 (GRCm39)	D321G	probably null	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp1	T	C	11: 52,134,446 (GRCm39)	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,105,200 (GRCm39)	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850 (GRCm38)	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,797,802 (GRCm39)	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,183,874 (GRCm39)	A472V	probably damaging	Het
Spmap1	A	G	11: 97,662,441 (GRCm39)	S144P	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Stom	C	T	2: 35,213,758 (GRCm39)	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028 (GRCm39)	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,150,361 (GRCm39)	V449I	probably benign	Het
Triobp	C	T	15: 78,851,295 (GRCm39)	A483V	probably benign	Het
Vdac1	G	A	11: 52,265,799 (GRCm39)		probably null	Het
Vmn2r75	T	G	7: 85,815,494 (GRCm39)	E123D	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zeb1os1	T	C	18: 5,525,375 (GRCm39)		noncoding transcript	Het

Other mutations in Ifnar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Ifnar2	APN	16	91,188,599 (GRCm39)	unclassified	probably benign
IGL02817:Ifnar2	APN	16	91,184,880 (GRCm39)	missense	probably benign	0.01
macro-2	UTSW	16	91,180,787 (GRCm39)	start codon destroyed	probably null
R0701:Ifnar2	UTSW	16	91,201,117 (GRCm39)	missense	possibly damaging	0.53
R1342:Ifnar2	UTSW	16	91,200,809 (GRCm39)	missense	possibly damaging	0.85
R1542:Ifnar2	UTSW	16	91,196,153 (GRCm39)	missense	possibly damaging	0.95
R1631:Ifnar2	UTSW	16	91,188,755 (GRCm39)	missense	probably benign	0.00
R1913:Ifnar2	UTSW	16	91,201,058 (GRCm39)	missense	probably benign	0.33
R3078:Ifnar2	UTSW	16	91,182,889 (GRCm39)	missense	possibly damaging	0.86
R4193:Ifnar2	UTSW	16	91,201,232 (GRCm39)	missense	probably damaging	0.98
R5385:Ifnar2	UTSW	16	91,201,086 (GRCm39)	missense	possibly damaging	0.70
R5545:Ifnar2	UTSW	16	91,181,913 (GRCm39)	critical splice donor site	probably null
R5645:Ifnar2	UTSW	16	91,201,115 (GRCm39)	missense	possibly damaging	0.85
R6223:Ifnar2	UTSW	16	91,184,876 (GRCm39)	missense	probably damaging	0.98
R6371:Ifnar2	UTSW	16	91,184,986 (GRCm39)	missense	possibly damaging	0.95
R6710:Ifnar2	UTSW	16	91,190,771 (GRCm39)	missense	probably damaging	0.98
R6929:Ifnar2	UTSW	16	91,190,766 (GRCm39)	nonsense	probably null
R7530:Ifnar2	UTSW	16	91,201,201 (GRCm39)	missense	probably benign	0.18
R7763:Ifnar2	UTSW	16	91,196,181 (GRCm39)	missense	probably benign	0.02
R8444:Ifnar2	UTSW	16	91,200,857 (GRCm39)	missense	possibly damaging	0.93
R8529:Ifnar2	UTSW	16	91,188,684 (GRCm39)	missense	possibly damaging	0.77
R8969:Ifnar2	UTSW	16	91,201,060 (GRCm39)	missense	probably benign	0.18
R9016:Ifnar2	UTSW	16	91,201,073 (GRCm39)	missense	possibly damaging	0.96
R9667:Ifnar2	UTSW	16	91,184,984 (GRCm39)	missense	probably benign	0.01
R9765:Ifnar2	UTSW	16	91,184,975 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCCCATTCAGACAGAATTAGC -3'
(R):5'- CGTCTAAAGTAACCCTTCCCTGG -3'

Sequencing Primer
(F):5'- GCCCATTCAGACAGAATTAGCCTTTC -3'
(R):5'- CTGGCCTTACACAGTTCTTGAGAAG -3'

Posted On

2015-09-24