Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Ifnar1'

687098

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

068860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9031 (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 91302079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 518 (Y518C)

Ref Sequence

ENSEMBL: ENSMUSP00000023689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023689] [ENSMUST00000117748] [ENSMUST00000123196] [ENSMUST00000232453]

AlphaFold

P33896

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023689
AA Change: Y518C

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023689
Gene: ENSMUSG00000022967
AA Change: Y518C

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: Y518C

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112670
Gene: ENSMUSG00000022967
AA Change: Y518C

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: ENSMUST00000232453

Meta Mutation Damage Score

0.0663

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,810,466 (GRCm39)	R921H	probably benign	Het
Adcy5	A	G	16: 35,119,859 (GRCm39)	I1123V	probably damaging	Het
Agr2	G	C	12: 36,045,565 (GRCm39)	G17A	probably benign	Het
Akap6	A	T	12: 53,188,831 (GRCm39)	T2082S	probably benign	Het
Asxl3	G	T	18: 22,657,401 (GRCm39)	V1804F	probably damaging	Het
Atat1	A	G	17: 36,220,381 (GRCm39)	V37A	probably benign	Het
Atp1a3	A	T	7: 24,689,212 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,051,848 (GRCm39)	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,607,961 (GRCm39)	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,380,893 (GRCm39)	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,542,358 (GRCm39)	M173L	probably benign	Het
Cdhr1	T	C	14: 36,815,976 (GRCm39)	I141V	probably benign	Het
Chia1	T	C	3: 106,035,777 (GRCm39)	F206L	probably benign	Het
Clca3a2	C	T	3: 144,511,475 (GRCm39)	G640E	probably damaging	Het
Clcn7	T	C	17: 25,376,497 (GRCm39)	V609A	probably damaging	Het
Cmklr2	T	C	1: 63,223,145 (GRCm39)	E30G	probably benign	Het
Col22a1	C	A	15: 71,753,523 (GRCm39)	G126*	probably null	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Ctcfl	A	T	2: 172,959,044 (GRCm39)	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942 (GRCm39)	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,061,663 (GRCm39)	C216*	probably null	Het
Cyp2d12	T	A	15: 82,443,423 (GRCm39)	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,189,199 (GRCm39)	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,290,865 (GRCm39)	M298V	probably benign	Het
Dennd4b	T	C	3: 90,178,188 (GRCm39)	V471A	probably benign	Het
Dlc1	A	G	8: 37,405,055 (GRCm39)	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,001,128 (GRCm39)	G2406S	probably benign	Het
Dnah8	A	G	17: 30,956,401 (GRCm39)	K2127R	probably damaging	Het
Dusp13b	G	A	14: 21,790,233 (GRCm39)	R38C	probably benign	Het
Ebf2	T	A	14: 67,472,594 (GRCm39)	I4N	probably benign	Het
Eef1ece2	C	T	16: 20,459,375 (GRCm39)	P570L	probably damaging	Het
Fcgbp	A	G	7: 27,790,908 (GRCm39)	N723S	possibly damaging	Het
Galnt15	T	A	14: 31,770,027 (GRCm39)	V368E	probably damaging	Het
Garem2	A	G	5: 30,313,262 (GRCm39)	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,182 (GRCm39)	S717N	probably damaging	Het
Gfm2	T	C	13: 97,309,201 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,790 (GRCm39)	D1051G	possibly damaging	Het
Helz2	T	A	2: 180,874,261 (GRCm39)	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,553,270 (GRCm39)	V297D	probably damaging	Het
Kcnip2	T	A	19: 45,783,210 (GRCm39)	D153V	probably damaging	Het
Kif15	A	T	9: 122,846,492 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,073,042 (GRCm39)	F147L	probably damaging	Het
Klhl29	T	C	12: 5,140,537 (GRCm39)	R702G	probably damaging	Het
Lemd3	C	T	10: 120,767,878 (GRCm39)	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,012,503 (GRCm39)	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,900,963 (GRCm39)	K423*	probably null	Het
Mia2	A	G	12: 59,155,586 (GRCm39)	D433G	probably damaging	Het
Mpp2	G	T	11: 101,954,099 (GRCm39)	A216E	probably benign	Het
Mro	T	C	18: 74,009,911 (GRCm39)		probably null	Het
Mybpc1	T	G	10: 88,358,906 (GRCm39)	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,190,141 (GRCm39)	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,082,094 (GRCm39)	V618A	probably damaging	Het
Naip2	T	G	13: 100,314,776 (GRCm39)	D334A	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,107,608 (GRCm39)	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,257,698 (GRCm39)	F439V	probably damaging	Het
Nploc4	A	T	11: 120,319,368 (GRCm39)	L64H	probably damaging	Het
Ola1	T	C	2: 72,924,060 (GRCm39)	E246G	probably benign	Het
Otof	G	A	5: 30,537,532 (GRCm39)	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,599,675 (GRCm39)	T2438A	probably damaging	Het
Pex1	A	G	5: 3,686,844 (GRCm39)	T1242A	probably damaging	Het
Pink1	A	T	4: 138,043,056 (GRCm39)		probably benign	Het
Prkcq	A	G	2: 11,251,819 (GRCm39)	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,880,458 (GRCm39)	Y88*	probably null	Het
Ptpru	A	G	4: 131,515,691 (GRCm39)	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,578,667 (GRCm39)	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,282,532 (GRCm39)		probably benign	Het
Slc4a4	T	C	5: 89,205,568 (GRCm39)		probably benign	Het
Slc6a18	A	T	13: 73,819,822 (GRCm39)	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,338,214 (GRCm39)	I104L	probably damaging	Het
Syne3	A	T	12: 104,905,871 (GRCm39)	S897R	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tnni3k	A	G	3: 154,744,146 (GRCm39)	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,780,163 (GRCm39)	K700E	probably benign	Het
Top3a	T	C	11: 60,636,695 (GRCm39)	K657E	probably damaging	Het
Trgv4	C	T	13: 19,369,169 (GRCm39)	Q7*	probably null	Het
Trim6	T	C	7: 103,875,159 (GRCm39)	L132P	probably damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vmn1r179	A	T	7: 23,628,234 (GRCm39)	I142L	probably benign	Het
Zbtb2	A	T	10: 4,319,183 (GRCm39)	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,723,433 (GRCm39)	V1812A	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
R8683:Ifnar1	UTSW	16	91,296,332 (GRCm39)	missense	probably damaging	1.00
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'- GTGATGCACACTCCGAAAGG -3'
(R):5'- ATTTCCCAGGAAGCAGGTCC -3'

Sequencing Primer
(F):5'- CTGGAGATGCAGGGTTTATTTTAAAC -3'
(R):5'- AAGCAGGTCCCGTCTTCCAAG -3'

Posted On

2021-11-19