Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Ifnar1'

562385

Institutional Source

Beutler Lab

Gene Symbol

Ifnar1

Ensembl Gene

ENSMUSG00000022967

Gene Name

interferon (alpha and beta) receptor 1

Synonyms

Ifar, Ifrc, IFN-alpha/betaR

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_010508; VEGA: OTTMUST00000067225; MGI: 107658;

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91485238-91507441 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91499556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 315 (H315R)

Ref Sequence

ENSEMBL: ENSMUSP00000023689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023689] [ENSMUST00000117748] [ENSMUST00000123196] [ENSMUST00000129878] [ENSMUST00000232509]

AlphaFold

P33896

PDB Structure

Murine Ifnar1 in complex with interferon-beta [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000023689
AA Change: H315R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023689
Gene: ENSMUSG00000022967
AA Change: H315R

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART
FN3	128	213	7.02e1	SMART
low complexity region	267	275	N/A	INTRINSIC
FN3	332	409	3.23e0	SMART
PDB:4PO6\|B	469	499	3e-7	PDB
low complexity region	550	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117748
AA Change: H315R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112670
Gene: ENSMUSG00000022967
AA Change: H315R

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART
FN3	128	213	7.02e1	SMART
low complexity region	267	275	N/A	INTRINSIC
FN3	332	409	3.23e0	SMART
PDB:4PO6\|B	469	499	3e-7	PDB
low complexity region	550	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123196

SMART Domains

Protein: ENSMUSP00000119160
Gene: ENSMUSG00000022967

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART
FN3	128	213	7.02e1	SMART
low complexity region	267	275	N/A	INTRINSIC
FN3	332	409	3.23e0	SMART
PDB:4PO6\|B	469	499	3e-7	PDB
low complexity region	550	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129878

SMART Domains

Protein: ENSMUSP00000120945
Gene: ENSMUSG00000022967

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232509

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased susceptibility to viral infection, elevated levels of myeloid lineage cells in the peripheral blood and bone marrow, and reduced immune response to immunostimulatory DNA. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(5) Gene trapped(4) Chemically induced(1)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,595,352	E122G	probably benign	Het
Adamts2	T	C	11: 50,791,820	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,420,905	S830P	probably benign	Het
Atp1a3	T	A	7: 24,987,985	Q696L	probably benign	Het
Brox	G	A	1: 183,291,959	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,890,242	I197V	probably benign	Het
Cand2	G	A	6: 115,791,192	V433M	probably damaging	Het
Cep83	A	G	10: 94,719,665	K74E	probably damaging	Het
Chrng	A	T	1: 87,209,444	T275S	probably benign	Het
Clca2	T	C	3: 145,084,108	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,695,424		probably null	Het
Cnga1	T	C	5: 72,618,249	N43S	probably benign	Het
Cog8	A	T	8: 107,056,352	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,296,737		probably null	Het
Cyp26b1	G	A	6: 84,577,150	Q162*	probably null	Het
Elmod3	A	G	6: 72,594,753	F14S	probably benign	Het
Eps8	A	G	6: 137,539,356	S9P	probably benign	Het
Fam105a	G	A	15: 27,658,187	T199M	probably benign	Het
Fam184b	T	C	5: 45,584,175	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,977,369	L654S	unknown	Het
Foxp1	A	T	6: 98,935,412	L580Q	unknown	Het
Galr1	A	G	18: 82,405,664	S163P	probably damaging	Het
Ganc	T	C	2: 120,427,775	F201L	possibly damaging	Het
Gin1	T	C	1: 97,785,151	F310L	probably benign	Het
Grik2	A	T	10: 49,101,416		probably null	Het
Haus1	A	T	18: 77,764,134	F94I	probably benign	Het
Hcn4	A	G	9: 58,853,399	Y409C	unknown	Het
Hspa1l	A	G	17: 34,977,255	K90R	probably benign	Het
Icam5	T	C	9: 21,037,001	S702P	possibly damaging	Het
Klra9	T	C	6: 130,191,261	H14R	probably damaging	Het
Krt78	A	G	15: 101,947,394	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,570,925	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,292,662	S598I	unknown	Het
Lama1	A	T	17: 67,752,446	D608V		Het
Lrrc55	G	A	2: 85,196,440	T80I	probably damaging	Het
Lyst	A	T	13: 13,643,509	T1255S	probably benign	Het
Magi2	T	C	5: 20,465,588	V310A	probably damaging	Het
Med23	C	A	10: 24,902,004	A750D	probably benign	Het
Mmp2	G	A	8: 92,831,786	R161Q	probably damaging	Het
Myo15	A	T	11: 60,496,495	I733F	probably benign	Het
Ncan	A	T	8: 70,100,311	F1090L	possibly damaging	Het
Olfr701	T	G	7: 106,818,995	V304G	probably damaging	Het
Pafah1b1	A	G	11: 74,682,278	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,266,687	Y564N	probably damaging	Het
Pear1	A	G	3: 87,750,289	S988P	probably benign	Het
Pgam2	A	C	11: 5,803,013	V194G	probably damaging	Het
Plvap	A	T	8: 71,511,577	I47N	probably damaging	Het
Prdx6	A	T	1: 161,247,297	L71H	probably damaging	Het
Psmb11	G	A	14: 54,625,951	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,227,225		probably null	Het
Rcn2	T	A	9: 56,057,479	N240K	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Slc12a4	T	G	8: 105,946,737	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,488,048	M1085K	unknown	Het
Smg1	A	T	7: 118,176,955	C1371S	probably benign	Het
Spg11	A	T	2: 122,108,104	F456L	probably damaging	Het
Srsf10	C	T	4: 135,856,217		probably benign	Het
Stxbp5	T	C	10: 9,798,187	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,480,280	D881V	unknown	Het
Tmem171	T	C	13: 98,692,625	T6A	probably benign	Het
Tmem220	T	C	11: 67,026,163	L55P	unknown	Het
Ttn	G	T	2: 76,846,781	P11037Q	unknown	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Usp47	T	C	7: 112,092,877	S849P	probably benign	Het
Vcan	G	A	13: 89,705,270	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,390,098	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,540,963	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,455,653	R178C	probably damaging	Het
Wdr76	G	A	2: 121,528,920	V231I	probably damaging	Het
Xirp2	A	T	2: 67,525,551	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,258,625	T933A	probably benign	Het
Zmynd8	A	G	2: 165,858,053		probably null	Het
Zranb3	A	T	1: 128,040,893	I95K	probably benign	Het

Other mutations in Ifnar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ifnar1	APN	16	91489782	missense	probably damaging	0.99
IGL02183:Ifnar1	APN	16	91505146	missense	possibly damaging	0.94
IGL02828:Ifnar1	APN	16	91505416	critical splice donor site	probably null
macro-1	UTSW	16	91499885	missense	probably damaging	0.98
shook	UTSW	16	91499537	nonsense	probably null
sneffels	UTSW	16	91501620	critical splice acceptor site	probably null
R0124:Ifnar1	UTSW	16	91499537	nonsense	probably null
R0502:Ifnar1	UTSW	16	91501751	missense	probably damaging	1.00
R0617:Ifnar1	UTSW	16	91501682	missense	probably damaging	1.00
R1509:Ifnar1	UTSW	16	91503496	missense	probably damaging	1.00
R4111:Ifnar1	UTSW	16	91496158	missense	probably damaging	1.00
R4473:Ifnar1	UTSW	16	91495170	missense	probably damaging	0.98
R4964:Ifnar1	UTSW	16	91505086	missense	probably benign	0.08
R5497:Ifnar1	UTSW	16	91505364	missense	probably benign	0.01
R6135:Ifnar1	UTSW	16	91501620	critical splice acceptor site	probably null
R6398:Ifnar1	UTSW	16	91505415	critical splice donor site	probably null
R6505:Ifnar1	UTSW	16	91499537	nonsense	probably null
R6620:Ifnar1	UTSW	16	91496267	splice site	probably null
R7664:Ifnar1	UTSW	16	91495194	missense	probably damaging	1.00
R8337:Ifnar1	UTSW	16	91505336	missense	possibly damaging	0.70
R8348:Ifnar1	UTSW	16	91495299	missense	probably benign	0.00
R8531:Ifnar1	UTSW	16	91495456	nonsense	probably null
R8683:Ifnar1	UTSW	16	91499444	missense	probably damaging	1.00
R9031:Ifnar1	UTSW	16	91505191	missense	probably benign	0.13
R9110:Ifnar1	UTSW	16	91505262	missense	probably benign	0.04
R9278:Ifnar1	UTSW	16	91505125	missense	probably damaging	1.00
R9356:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9359:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9388:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9443:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9444:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9445:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
X0057:Ifnar1	UTSW	16	91495424	missense	probably damaging	0.98
X0057:Ifnar1	UTSW	16	91505283	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGTGCTTACTACAGTGTCTTAGG -3'
(R):5'- ACACTCCAGAAAGCGCTTGC -3'

Sequencing Primer
(F):5'- CAGTGTCTTAGGTATTATAGAGCCTC -3'
(R):5'- CTATACAGCAGGCATGGACC -3'

Posted On

2019-06-26