Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Ifnar1'

661913

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

068538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91282126-91304329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91296332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 278 (W278R)

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 damaging
Transcript: ENSMUST00000023689
AA Change: W278R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023689
Gene: ENSMUSG00000022967
AA Change: W278R

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 damaging
Transcript: ENSMUST00000117748
AA Change: W278R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112670
Gene: ENSMUSG00000022967
AA Change: W278R

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: 98.9%

Validation Efficiency

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
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	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
R7229:Ifnar1	UTSW	16	91,296,444 (GRCm39)	missense	probably benign	0.00
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
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'- TTGTACCAGGAGTTCCCTAAGTG -3'
(R):5'- ACACTCCAGAAAGCGCTTGC -3'

Sequencing Primer
(F):5'- CCTAAGTGGGGAAACTGCC -3'
(R):5'- CCATAAGTTTGAAGCTACCCTGGG -3'

Posted On

2021-03-08