Mutagenetix > Incidental Mutation

Incidental Mutation 'R8529:Ifnar2'

658967

Institutional Source

Beutler Lab

Gene Symbol

Ifnar2

Ensembl Gene

ENSMUSG00000022971

Gene Name

interferon (alpha and beta) receptor 2

Synonyms

Ifnar-2

MMRRC Submission

068499-MU

Accession Numbers

Essential gene?

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

Stock #

R8529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91169671-91202477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91188684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 157 (V157D)

Ref Sequence

ENSEMBL: ENSMUSP00000113358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000117836] [ENSMUST00000134491] [ENSMUST00000139503]

AlphaFold

O35664

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023693
AA Change: V157D

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: V157D

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

possibly damaging
Transcript: ENSMUST00000089042
AA Change: V157D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971
AA Change: V157D

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

possibly damaging
Transcript: ENSMUST00000117836
AA Change: V157D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113358
Gene: ENSMUSG00000022971
AA Change: V157D

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

possibly damaging
Transcript: ENSMUST00000134491
AA Change: V55D

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134796
Gene: ENSMUSG00000022971
AA Change: V55D

Domain	Start	End	E-Value	Type
Pfam:Interfer-bind	30	117	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139503

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: V25D

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701
AA Change: V25D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,970,704 (GRCm39)	Y173C	probably benign	Het
Ankrd55	A	T	13: 112,480,670 (GRCm39)	T192S	probably benign	Het
Apob	A	T	12: 8,057,353 (GRCm39)	H1912L	probably damaging	Het
Bcl2l11	T	C	2: 127,970,796 (GRCm39)	S82P	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Btnl10	A	T	11: 58,813,238 (GRCm39)	D289V	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Crybg3	C	A	16: 59,376,984 (GRCm39)	K1423N	probably damaging	Het
Dgat1	T	A	15: 76,387,237 (GRCm39)	Y350F	probably damaging	Het
Dhx36	TCCGCCGCCGCCGCCGC	TCCGCCGCCGCCGC	3: 62,414,277 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,611,682 (GRCm39)	D86G	probably damaging	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Erbb3	A	G	10: 128,419,069 (GRCm39)	V264A	probably damaging	Het
Fam149b	T	A	14: 20,408,370 (GRCm39)		probably null	Het
Foxc1	A	G	13: 31,992,520 (GRCm39)	S444G	unknown	Het
Gm2042	G	A	12: 87,926,856 (GRCm39)	S391N	possibly damaging	Het
Gnb3	A	T	6: 124,814,633 (GRCm39)	N88K	probably benign	Het
Il27	A	T	7: 126,191,977 (GRCm39)	L53Q	probably damaging	Het
Ints13	T	C	6: 146,464,926 (GRCm39)	E225G	probably damaging	Het
Itpr2	G	A	6: 146,231,051 (GRCm39)	R1167C	probably damaging	Het
Lrp2	A	T	2: 69,330,986 (GRCm39)	I1690K	probably damaging	Het
Lrrc37a	T	C	11: 103,348,373 (GRCm39)	E2774G	unknown	Het
Lyz2	A	T	10: 117,116,568 (GRCm39)	N93K	probably damaging	Het
Mki67	A	G	7: 135,315,688 (GRCm39)		probably null	Het
Mroh1	T	C	15: 76,311,832 (GRCm39)	F522L	probably benign	Het
Myo5a	A	G	9: 75,120,154 (GRCm39)	I1626V	probably benign	Het
Nav3	A	T	10: 109,689,192 (GRCm39)	S362T	probably benign	Het
Neurl4	C	T	11: 69,799,613 (GRCm39)	P972L	probably damaging	Het
Or11i1	A	T	3: 106,729,109 (GRCm39)	Y255*	probably null	Het
Or13p8	A	T	4: 118,583,770 (GRCm39)	T109S	probably benign	Het
Or8a1	A	T	9: 37,642,252 (GRCm39)	V9E	probably damaging	Het
Potefam3b	A	G	8: 21,159,174 (GRCm39)	D176G	possibly damaging	Het
Prdm5	C	T	6: 65,878,829 (GRCm39)	R128C	probably damaging	Het
Prom1	A	T	5: 44,170,369 (GRCm39)		probably null	Het
Prrc2c	T	A	1: 162,536,663 (GRCm39)		probably benign	Het
Prss3b	T	A	6: 41,009,369 (GRCm39)	Y155F	probably benign	Het
Ptprd	T	C	4: 76,047,262 (GRCm39)	T322A	probably damaging	Het
Reg3d	C	G	6: 78,353,382 (GRCm39)	G154R	probably null	Het
Rsf1	A	G	7: 97,320,074 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,769,509 (GRCm39)	T2724S	possibly damaging	Het
Sec63	A	G	10: 42,665,379 (GRCm39)	Y103C	probably damaging	Het
Serpinb9b	A	T	13: 33,223,543 (GRCm39)	D245V	probably benign	Het
Slc22a28	G	A	19: 8,040,778 (GRCm39)	T491I	probably benign	Het
Slc24a2	T	C	4: 86,946,517 (GRCm39)	N484S	possibly damaging	Het
Slc44a3	G	T	3: 121,319,334 (GRCm39)	L136I	probably benign	Het
Tff3	A	G	17: 31,348,460 (GRCm39)		probably null	Het
Tpp2	T	A	1: 44,022,300 (GRCm39)	D899E	probably benign	Het
Tsbp1	G	T	17: 34,679,143 (GRCm39)	C302F	possibly damaging	Het
Tsen54	G	T	11: 115,711,386 (GRCm39)	D268Y	possibly damaging	Het
Ttbk2	A	C	2: 120,604,338 (GRCm39)	V220G	possibly damaging	Het
Uggt1	A	G	1: 36,223,513 (GRCm39)	V592A	possibly damaging	Het
Usp49	A	T	17: 47,983,037 (GRCm39)	Q14L	probably damaging	Het
Vldlr	T	A	19: 27,207,656 (GRCm39)	L48Q	probably benign	Het
Zbed6	T	C	1: 133,584,706 (GRCm39)	Y877C	probably benign	Het
Zp3	C	A	5: 136,016,119 (GRCm39)	T282N	probably damaging	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
R5645:Ifnar2	UTSW	16	91,201,115 (GRCm39)	missense	possibly damaging	0.85
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
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'- GCCCATTCAGACAGAATTAGC -3'
(R):5'- CGTCTAAAGTAACCCTTCCCTGG -3'

Sequencing Primer
(F):5'- GCCCATTCAGACAGAATTAGCCTTTC -3'
(R):5'- CTGGCCTTACACAGTTCTTGAGAAG -3'

Posted On

2021-01-18