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

045301-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91282126-91304329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91296444 bp (GRCm39)

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: 54,832,809 (GRCm39)	E122G	probably benign	Het
Adamts2	T	C	11: 50,682,647 (GRCm39)	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,239,723 (GRCm39)	S830P	probably benign	Het
Atp1a3	T	A	7: 24,687,410 (GRCm39)	Q696L	probably benign	Het
Brox	G	A	1: 183,073,523 (GRCm39)	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,747,439 (GRCm39)	I197V	probably benign	Het
Cand2	G	A	6: 115,768,153 (GRCm39)	V433M	probably damaging	Het
Cep83	A	G	10: 94,555,527 (GRCm39)	K74E	probably damaging	Het
Chrng	A	T	1: 87,137,166 (GRCm39)	T275S	probably benign	Het
Clca3a2	T	C	3: 144,789,869 (GRCm39)	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,914,398 (GRCm39)		probably null	Het
Cnga1	T	C	5: 72,775,592 (GRCm39)	N43S	probably benign	Het
Cog8	A	T	8: 107,782,984 (GRCm39)	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,346,738 (GRCm39)		probably null	Het
Cyp26b1	G	A	6: 84,554,132 (GRCm39)	Q162*	probably null	Het
Elmod3	A	G	6: 72,571,736 (GRCm39)	F14S	probably benign	Het
Eps8	A	G	6: 137,516,354 (GRCm39)	S9P	probably benign	Het
Fam184b	T	C	5: 45,741,517 (GRCm39)	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,884,676 (GRCm39)	L654S	unknown	Het
Foxp1	A	T	6: 98,912,373 (GRCm39)	L580Q	unknown	Het
Galr1	A	G	18: 82,423,789 (GRCm39)	S163P	probably damaging	Het
Ganc	T	C	2: 120,258,256 (GRCm39)	F201L	possibly damaging	Het
Gin1	T	C	1: 97,712,876 (GRCm39)	F310L	probably benign	Het
Grik2	A	T	10: 48,977,512 (GRCm39)		probably null	Het
Haus1	A	T	18: 77,851,834 (GRCm39)	F94I	probably benign	Het
Hcn4	A	G	9: 58,760,682 (GRCm39)	Y409C	unknown	Het
Hspa1l	A	G	17: 35,196,231 (GRCm39)	K90R	probably benign	Het
Icam5	T	C	9: 20,948,297 (GRCm39)	S702P	possibly damaging	Het
Klra9	T	C	6: 130,168,224 (GRCm39)	H14R	probably damaging	Het
Krt78	A	G	15: 101,855,829 (GRCm39)	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,367,813 (GRCm39)	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,168,560 (GRCm39)	S598I	unknown	Het
Lama1	A	T	17: 68,059,441 (GRCm39)	D608V		Het
Lrrc55	G	A	2: 85,026,784 (GRCm39)	T80I	probably damaging	Het
Lyst	A	T	13: 13,818,094 (GRCm39)	T1255S	probably benign	Het
Magi2	T	C	5: 20,670,586 (GRCm39)	V310A	probably damaging	Het
Med23	C	A	10: 24,777,902 (GRCm39)	A750D	probably benign	Het
Mmp2	G	A	8: 93,558,414 (GRCm39)	R161Q	probably damaging	Het
Myo15a	A	T	11: 60,387,321 (GRCm39)	I733F	probably benign	Het
Ncan	A	T	8: 70,552,961 (GRCm39)	F1090L	possibly damaging	Het
Or2ag2b	T	G	7: 106,418,202 (GRCm39)	V304G	probably damaging	Het
Otulinl	G	A	15: 27,658,273 (GRCm39)	T199M	probably benign	Het
Pafah1b1	A	G	11: 74,573,104 (GRCm39)	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,399,740 (GRCm39)	Y564N	probably damaging	Het
Pear1	A	G	3: 87,657,596 (GRCm39)	S988P	probably benign	Het
Pgam2	A	C	11: 5,753,013 (GRCm39)	V194G	probably damaging	Het
Plvap	A	T	8: 71,964,221 (GRCm39)	I47N	probably damaging	Het
Prdx6	A	T	1: 161,074,867 (GRCm39)	L71H	probably damaging	Het
Psmb11	G	A	14: 54,863,408 (GRCm39)	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,190,845 (GRCm39)		probably null	Het
Rcn2	T	A	9: 55,964,763 (GRCm39)	N240K	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Slc12a4	T	G	8: 106,673,369 (GRCm39)	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,323,917 (GRCm39)	M1085K	unknown	Het
Smg1	A	T	7: 117,776,178 (GRCm39)	C1371S	probably benign	Het
Spg11	A	T	2: 121,938,585 (GRCm39)	F456L	probably damaging	Het
Srsf10	C	T	4: 135,583,528 (GRCm39)		probably benign	Het
Stxbp5	T	C	10: 9,673,931 (GRCm39)	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,179,705 (GRCm39)	D881V	unknown	Het
Tmem171	T	C	13: 98,829,133 (GRCm39)	T6A	probably benign	Het
Tmem220	T	C	11: 66,916,989 (GRCm39)	L55P	unknown	Het
Ttn	G	T	2: 76,677,125 (GRCm39)	P11037Q	unknown	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp47	T	C	7: 111,692,084 (GRCm39)	S849P	probably benign	Het
Vcan	G	A	13: 89,853,389 (GRCm39)	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,367,083 (GRCm39)	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,761,225 (GRCm39)	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,392,463 (GRCm39)	R178C	probably damaging	Het
Wdr76	G	A	2: 121,359,401 (GRCm39)	V231I	probably damaging	Het
Xirp2	A	T	2: 67,355,895 (GRCm39)	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,088,969 (GRCm39)	T933A	probably benign	Het
Zmynd8	A	G	2: 165,699,973 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,968,630 (GRCm39)	I95K	probably benign	Het

Other mutations in Ifnar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ifnar1	APN	16	91,286,670 (GRCm39)	missense	probably damaging	0.99
IGL02183:Ifnar1	APN	16	91,302,034 (GRCm39)	missense	possibly damaging	0.94
IGL02828:Ifnar1	APN	16	91,302,304 (GRCm39)	critical splice donor site	probably null
macro-1	UTSW	16	91,296,773 (GRCm39)	missense	probably damaging	0.98
shook	UTSW	16	91,296,425 (GRCm39)	nonsense	probably null
sneffels	UTSW	16	91,298,508 (GRCm39)	critical splice acceptor site	probably null
R0124:Ifnar1	UTSW	16	91,296,425 (GRCm39)	nonsense	probably null
R0502:Ifnar1	UTSW	16	91,298,639 (GRCm39)	missense	probably damaging	1.00
R0617:Ifnar1	UTSW	16	91,298,570 (GRCm39)	missense	probably damaging	1.00
R1509:Ifnar1	UTSW	16	91,300,384 (GRCm39)	missense	probably damaging	1.00
R4111:Ifnar1	UTSW	16	91,293,046 (GRCm39)	missense	probably damaging	1.00
R4473:Ifnar1	UTSW	16	91,292,058 (GRCm39)	missense	probably damaging	0.98
R4964:Ifnar1	UTSW	16	91,301,974 (GRCm39)	missense	probably benign	0.08
R5497:Ifnar1	UTSW	16	91,302,252 (GRCm39)	missense	probably benign	0.01
R6135:Ifnar1	UTSW	16	91,298,508 (GRCm39)	critical splice acceptor site	probably null
R6398:Ifnar1	UTSW	16	91,302,303 (GRCm39)	critical splice donor site	probably null
R6505:Ifnar1	UTSW	16	91,296,425 (GRCm39)	nonsense	probably null
R6620:Ifnar1	UTSW	16	91,293,155 (GRCm39)	splice site	probably null
R7664:Ifnar1	UTSW	16	91,292,082 (GRCm39)	missense	probably damaging	1.00
R8337:Ifnar1	UTSW	16	91,302,224 (GRCm39)	missense	possibly damaging	0.70
R8348:Ifnar1	UTSW	16	91,292,187 (GRCm39)	missense	probably benign	0.00
R8531:Ifnar1	UTSW	16	91,292,344 (GRCm39)	nonsense	probably null
R8683:Ifnar1	UTSW	16	91,296,332 (GRCm39)	missense	probably damaging	1.00
R9031:Ifnar1	UTSW	16	91,302,079 (GRCm39)	missense	probably benign	0.13
R9110:Ifnar1	UTSW	16	91,302,150 (GRCm39)	missense	probably benign	0.04
R9278:Ifnar1	UTSW	16	91,302,013 (GRCm39)	missense	probably damaging	1.00
R9356:Ifnar1	UTSW	16	91,292,367 (GRCm39)	missense	probably benign	0.06
R9359:Ifnar1	UTSW	16	91,292,367 (GRCm39)	missense	probably benign	0.06
R9388:Ifnar1	UTSW	16	91,292,367 (GRCm39)	missense	probably benign	0.06
R9443:Ifnar1	UTSW	16	91,292,367 (GRCm39)	missense	probably benign	0.06
R9444:Ifnar1	UTSW	16	91,292,367 (GRCm39)	missense	probably benign	0.06
R9445:Ifnar1	UTSW	16	91,292,367 (GRCm39)	missense	probably benign	0.06
X0057:Ifnar1	UTSW	16	91,302,171 (GRCm39)	missense	possibly damaging	0.92
X0057:Ifnar1	UTSW	16	91,292,312 (GRCm39)	missense	probably damaging	0.98

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