Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Ifnar2'

441107

Institutional Source

Beutler Lab

Gene Symbol

Ifnar2

Ensembl Gene

ENSMUSG00000022971

Gene Name

interferon (alpha and beta) receptor 2

Synonyms

Ifnar-2

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

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

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91169671-91202477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91201115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 452 (D452G)

Ref Sequence

ENSEMBL: ENSMUSP00000023693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023691] [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000156133]

AlphaFold

O35664

Predicted Effect

probably benign
Transcript: ENSMUST00000023691

SMART Domains

Protein: ENSMUSP00000023691
Gene: ENSMUSG00000022969

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	23	100	4.6e-2	SMART
FN3	114	204	7.1e-3	SMART
transmembrane domain	228	250	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023693
AA Change: D452G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: D452G

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

SMART Domains

Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971

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

noncoding transcript
Transcript: ENSMUST00000137612

Predicted Effect

probably benign
Transcript: ENSMUST00000144215

SMART Domains

Protein: ENSMUSP00000120485
Gene: ENSMUSG00000022969

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	7	65	1.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152729

Predicted Effect

probably benign
Transcript: ENSMUST00000156133

SMART Domains

Protein: ENSMUSP00000120227
Gene: ENSMUSG00000022969

Domain	Start	End	E-Value	Type
low complexity region	39	48	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161517

SMART Domains

Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160764

SMART Domains

Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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. 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,274,403 (GRCm39)	I169V	probably damaging	Het
4930503B20Rik	C	T	3: 146,356,264 (GRCm39)	E215K	probably damaging	Het
Abca6	T	C	11: 110,141,234 (GRCm39)	E29G	probably damaging	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,506 (GRCm39)	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,877,321 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,527 (GRCm39)	I513F	possibly damaging	Het
Ak5	A	T	3: 152,361,670 (GRCm39)	M84K	possibly damaging	Het
Akap1	T	C	11: 88,736,453 (GRCm39)	T103A	probably benign	Het
Akap9	A	G	5: 4,100,590 (GRCm39)	T2751A	probably benign	Het
Amer3	A	T	1: 34,627,462 (GRCm39)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,818,232 (GRCm39)	Y325C	probably benign	Het
Apba2	A	G	7: 64,345,554 (GRCm39)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,315,983 (GRCm39)	V967E	probably damaging	Het
Atosa	T	A	9: 74,932,961 (GRCm39)	V976E	probably damaging	Het
Boc	A	G	16: 44,320,024 (GRCm39)	V320A	probably damaging	Het
Car13	T	A	3: 14,710,180 (GRCm39)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cep295	C	A	9: 15,246,404 (GRCm39)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,244,090 (GRCm39)	H1455Q	probably damaging	Het
Cr2	G	T	1: 194,836,581 (GRCm39)	H861N	probably damaging	Het
Cul5	T	C	9: 53,534,243 (GRCm39)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,982,596 (GRCm39)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,833,443 (GRCm39)	T500M	probably damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Fam161a	T	A	11: 22,965,725 (GRCm39)	I6N	probably damaging	Het
Fry	T	C	5: 150,304,332 (GRCm39)	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,736,122 (GRCm39)	L553I	probably benign	Het
Gm1123	T	C	9: 98,896,244 (GRCm39)	D212G	probably benign	Het
Grin2a	T	A	16: 9,810,090 (GRCm39)	D103V	probably damaging	Het
Heg1	A	G	16: 33,527,333 (GRCm39)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,310,824 (GRCm39)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 61,349,834 (GRCm39)	I154S	possibly damaging	Het
Iqcc	A	T	4: 129,510,320 (GRCm39)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,025,006 (GRCm39)	I669T	probably damaging	Het
Itgae	A	G	11: 73,020,074 (GRCm39)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,840,503 (GRCm39)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm39)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,541,348 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,742,278 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,109,943 (GRCm39)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,148,273 (GRCm39)	T682A	probably damaging	Het
Mab21l4	T	C	1: 93,080,668 (GRCm39)	T413A	probably damaging	Het
Mslnl	G	T	17: 25,956,816 (GRCm39)	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,426,044 (GRCm39)	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,426,051 (GRCm39)		probably null	Het
Nkx2-2	T	C	2: 147,026,319 (GRCm39)	T140A	probably damaging	Het
Or11h6	T	C	14: 50,880,524 (GRCm39)	V262A	probably benign	Het
Or4c125	A	T	2: 89,170,049 (GRCm39)	V199E	possibly damaging	Het
Oser1	C	T	2: 163,248,965 (GRCm39)	R79H	probably damaging	Het
Pfas	A	G	11: 68,881,958 (GRCm39)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,388 (GRCm39)	E1970G	probably benign	Het
Prph2	G	T	17: 47,221,593 (GRCm39)		probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm39)	A1288S	probably benign	Het
Scart2	G	A	7: 139,828,853 (GRCm39)	V171I	possibly damaging	Het
Sdha	A	G	13: 74,471,958 (GRCm39)		probably null	Het
Sec16a	T	G	2: 26,329,907 (GRCm39)	T703P	probably benign	Het
Senp7	T	A	16: 55,993,571 (GRCm39)	N724K	possibly damaging	Het
Skint1	A	G	4: 111,882,699 (GRCm39)	I248V	probably benign	Het
Slc9a5	T	C	8: 106,083,645 (GRCm39)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,780,385 (GRCm39)	N135S	possibly damaging	Het
Sncaip	A	G	18: 53,028,028 (GRCm39)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,225,781 (GRCm39)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,242,663 (GRCm39)	H281Q	probably benign	Het
Tex46	G	T	4: 136,340,228 (GRCm39)	M104I	probably benign	Het
Tjp3	T	C	10: 81,114,454 (GRCm39)		probably null	Het
Treh	A	G	9: 44,593,975 (GRCm39)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,337,611 (GRCm39)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,830,968 (GRCm39)	K1278E	probably damaging	Het
Tut4	G	A	4: 108,414,570 (GRCm39)	R49H	probably damaging	Het
Usp34	T	C	11: 23,325,024 (GRCm39)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Ywhae	T	C	11: 75,647,750 (GRCm39)	M160T	probably benign	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
R4592:Ifnar2	UTSW	16	91,188,684 (GRCm39)	missense	probably benign
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
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'- ACTGGCCCCTATGAGAGAAG -3'
(R):5'- GTCGGACTCTGAAGAGAAACCC -3'

Sequencing Primer
(F):5'- GAAAGAGTGTGCTCGAGGACTC -3'
(R):5'- CCAGTCAGTGAACCTCTTTGGAG -3'

Posted On

2016-11-08