Mutagenetix > Incidental Mutation

Incidental Mutation 'R2484:Ifngr1'

250849

Institutional Source

Beutler Lab

Gene Symbol

Ifngr1

Ensembl Gene

ENSMUSG00000020009

Gene Name

interferon gamma receptor 1

Synonyms

IFN-gammaR, Ifgr, IFN-gamma R, Ifngr, Nktar, CD119

MMRRC Submission

040408-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19467697-19485977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19477163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000020188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020188] [ENSMUST00000164591]

AlphaFold

P15261

Predicted Effect

probably damaging
Transcript: ENSMUST00000020188
AA Change: V108A

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

SMART Domains

Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	119	2.2e-27	PFAM
Pfam:Interfer-bind	131	245	8.5e-9	PFAM
Pfam:IFNGR1	168	331	1.6e-53	PFAM
low complexity region	401	416	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110989

Predicted Effect

probably benign
Transcript: ENSMUST00000164591

SMART Domains

Protein: ENSMUSP00000129309
Gene: ENSMUSG00000020009

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	74	2.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171772

SMART Domains

Protein: ENSMUSP00000127219
Gene: ENSMUSG00000020009

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	94	1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172253

SMART Domains

Protein: ENSMUSP00000127484
Gene: ENSMUSG00000020009

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC

Meta Mutation Damage Score

0.8528

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutant allele exhibit increased susceptibility to viral infection and experimental autoimmune uveoretinitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,541,819 (GRCm39)	D46N	possibly damaging	Het
A830018L16Rik	G	T	1: 11,666,526 (GRCm39)	A278S	probably damaging	Het
Acsbg3	A	G	17: 57,189,641 (GRCm39)	N252S	probably benign	Het
Adarb2	A	T	13: 8,619,810 (GRCm39)	K99*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atxn1l	A	G	8: 110,458,883 (GRCm39)	S460P	probably damaging	Het
Bicra	T	A	7: 15,722,605 (GRCm39)	N304I	possibly damaging	Het
Capn10	A	T	1: 92,872,565 (GRCm39)	D470V	probably damaging	Het
Chchd3	A	G	6: 32,780,950 (GRCm39)	Y184H	possibly damaging	Het
Col6a6	T	C	9: 105,658,003 (GRCm39)	I736M	probably damaging	Het
Dhx36	T	A	3: 62,380,236 (GRCm39)	N820I	probably damaging	Het
Drd4	C	T	7: 140,874,649 (GRCm39)	P347S	probably benign	Het
Ephx1	A	T	1: 180,817,537 (GRCm39)	V378D	probably damaging	Het
Extl3	A	T	14: 65,313,184 (GRCm39)	V666E	probably damaging	Het
Fam20c	G	C	5: 138,794,872 (GRCm39)	R500S	probably benign	Het
Glod4	A	T	11: 76,130,344 (GRCm39)	D42E	probably damaging	Het
Golga2	T	C	2: 32,194,782 (GRCm39)	I643T	probably benign	Het
Hnf1b	A	T	11: 83,752,661 (GRCm39)	T73S	probably benign	Het
Hydin	A	G	8: 111,239,747 (GRCm39)	Y2009C	possibly damaging	Het
Ido2	A	G	8: 25,023,831 (GRCm39)	C336R	probably damaging	Het
Igbp1b	A	T	6: 138,634,492 (GRCm39)	N317K	probably benign	Het
Ints14	A	G	9: 64,893,366 (GRCm39)	S511G	probably benign	Het
Itpr1	T	C	6: 108,346,071 (GRCm39)	S125P	probably damaging	Het
Jag1	T	C	2: 136,926,620 (GRCm39)	T975A	possibly damaging	Het
Klra17	A	G	6: 129,845,720 (GRCm39)	W165R	probably damaging	Het
Leo1	T	A	9: 75,352,755 (GRCm39)	N99K	possibly damaging	Het
Lonp1	C	A	17: 56,921,659 (GRCm39)	G883C	probably damaging	Het
Lpin1	C	A	12: 16,597,500 (GRCm39)	G682W	probably damaging	Het
Macf1	A	C	4: 123,367,465 (GRCm39)	L2432R	probably damaging	Het
Med12l	T	G	3: 59,205,259 (GRCm39)	I2075M	probably benign	Het
Mroh6	A	G	15: 75,756,177 (GRCm39)	S660P	probably benign	Het
Myh6	G	T	14: 55,198,699 (GRCm39)	Y309*	probably null	Het
Myof	C	T	19: 37,892,291 (GRCm39)	R1154H	probably benign	Het
Myrip	G	A	9: 120,253,685 (GRCm39)	E253K	probably benign	Het
Ndst3	T	C	3: 123,346,186 (GRCm39)	D281G	possibly damaging	Het
Nipbl	T	C	15: 8,353,182 (GRCm39)	K1788R	probably damaging	Het
Nol12	A	G	15: 78,824,717 (GRCm39)		probably benign	Het
Nptn	A	G	9: 58,550,956 (GRCm39)	T212A	possibly damaging	Het
Nptx2	C	T	5: 144,493,155 (GRCm39)	A414V	probably damaging	Het
Nub1	A	G	5: 24,913,700 (GRCm39)	D503G	possibly damaging	Het
Obscn	T	A	11: 58,898,366 (GRCm39)		probably benign	Het
Or4a80	A	G	2: 89,582,578 (GRCm39)	I198T	probably benign	Het
Or51q1	A	G	7: 103,628,545 (GRCm39)	T49A	probably benign	Het
Or5b97	C	T	19: 12,879,005 (GRCm39)	M46I	probably benign	Het
Pcnx2	T	C	8: 126,617,859 (GRCm39)	E132G	probably damaging	Het
Pkdcc	A	G	17: 83,529,667 (GRCm39)		probably benign	Het
Prdm2	T	A	4: 142,861,776 (GRCm39)	I505F	probably damaging	Het
Psmc3	C	G	2: 90,886,346 (GRCm39)	Q169E	probably damaging	Het
Ptger4	A	T	15: 5,264,654 (GRCm39)	I334N	probably benign	Het
Ptrh1	T	C	2: 32,667,183 (GRCm39)	M161T	probably benign	Het
Rapgef6	T	A	11: 54,533,582 (GRCm39)	V482D	possibly damaging	Het
Rdh16f2	T	C	10: 127,710,946 (GRCm39)	S188P	probably damaging	Het
Rrh	T	C	3: 129,616,040 (GRCm39)	Y31C	probably damaging	Het
Selp	G	T	1: 163,971,523 (GRCm39)	W659L	probably benign	Het
Selp	G	T	1: 163,971,524 (GRCm39)	W659C	probably damaging	Het
Shh	A	G	5: 28,671,740 (GRCm39)	C8R	probably benign	Het
Spdye4b	C	A	5: 143,187,848 (GRCm39)	S167R	possibly damaging	Het
Strip1	T	C	3: 107,535,537 (GRCm39)	Y62C	possibly damaging	Het
Sucla2	A	T	14: 73,819,149 (GRCm39)	I232F	probably benign	Het
Sugp1	A	G	8: 70,522,174 (GRCm39)	D437G	possibly damaging	Het
Taf1a	A	G	1: 183,177,422 (GRCm39)		probably benign	Het
Tbc1d20	T	A	2: 152,153,283 (GRCm39)	M271K	probably damaging	Het
Tecpr2	T	C	12: 110,899,752 (GRCm39)	S707P	probably benign	Het
Tert	G	A	13: 73,796,104 (GRCm39)	R1017H	probably benign	Het
Tox	C	G	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Tpo	C	T	12: 30,153,968 (GRCm39)	A246T	probably benign	Het
Traf7	A	T	17: 24,730,613 (GRCm39)	V358D	probably damaging	Het
Trim56	C	T	5: 137,141,528 (GRCm39)	V663M	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usf3	C	T	16: 44,041,045 (GRCm39)	H1842Y	probably damaging	Het
Uvrag	T	C	7: 98,537,668 (GRCm39)	E509G	probably benign	Het
Vmn2r5	T	C	3: 64,411,392 (GRCm39)	D305G	possibly damaging	Het
Vmn2r52	T	C	7: 9,903,058 (GRCm39)	R457G	probably damaging	Het
Vti1a	A	C	19: 55,369,411 (GRCm39)	N101T	possibly damaging	Het
Zfp236	A	G	18: 82,686,762 (GRCm39)	F259L	probably benign	Het

Other mutations in Ifngr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Ifngr1	APN	10	19,484,946 (GRCm39)	missense	probably damaging	0.99
IGL01125:Ifngr1	APN	10	19,473,161 (GRCm39)	splice site	probably benign
IGL01366:Ifngr1	APN	10	19,485,348 (GRCm39)	missense	probably damaging	1.00
IGL01951:Ifngr1	APN	10	19,485,202 (GRCm39)	missense	possibly damaging	0.94
IGL02037:Ifngr1	APN	10	19,483,007 (GRCm39)	missense	probably benign	0.26
Marigold	UTSW	10	19,477,233 (GRCm39)	critical splice donor site	probably null
BB007:Ifngr1	UTSW	10	19,484,931 (GRCm39)	missense	probably damaging	1.00
BB017:Ifngr1	UTSW	10	19,484,931 (GRCm39)	missense	probably damaging	1.00
R0023:Ifngr1	UTSW	10	19,485,197 (GRCm39)	nonsense	probably null
R0325:Ifngr1	UTSW	10	19,473,180 (GRCm39)	missense	probably damaging	1.00
R0590:Ifngr1	UTSW	10	19,479,690 (GRCm39)	splice site	probably benign
R1305:Ifngr1	UTSW	10	19,482,001 (GRCm39)	missense	possibly damaging	0.91
R1496:Ifngr1	UTSW	10	19,477,193 (GRCm39)	missense	probably benign	0.04
R1597:Ifngr1	UTSW	10	19,485,090 (GRCm39)	missense	probably damaging	0.99
R2019:Ifngr1	UTSW	10	19,467,861 (GRCm39)	missense	probably damaging	0.99
R2302:Ifngr1	UTSW	10	19,485,393 (GRCm39)	missense	probably damaging	1.00
R4089:Ifngr1	UTSW	10	19,477,233 (GRCm39)	critical splice donor site	probably null
R4464:Ifngr1	UTSW	10	19,473,265 (GRCm39)	missense	possibly damaging	0.75
R4863:Ifngr1	UTSW	10	19,485,164 (GRCm39)	missense	probably damaging	1.00
R6045:Ifngr1	UTSW	10	19,484,909 (GRCm39)	missense	possibly damaging	0.61
R6047:Ifngr1	UTSW	10	19,482,061 (GRCm39)	missense	probably damaging	1.00
R6089:Ifngr1	UTSW	10	19,482,048 (GRCm39)	missense	probably benign	0.01
R6750:Ifngr1	UTSW	10	19,485,099 (GRCm39)	missense	probably benign	0.06
R6950:Ifngr1	UTSW	10	19,483,041 (GRCm39)	missense	probably damaging	0.99
R7162:Ifngr1	UTSW	10	19,485,101 (GRCm39)	missense	probably benign
R7930:Ifngr1	UTSW	10	19,484,931 (GRCm39)	missense	probably damaging	1.00
R8178:Ifngr1	UTSW	10	19,485,241 (GRCm39)	missense	probably benign	0.03
R8436:Ifngr1	UTSW	10	19,479,553 (GRCm39)	missense	probably damaging	1.00
R8975:Ifngr1	UTSW	10	19,485,360 (GRCm39)	missense	probably damaging	1.00
R9451:Ifngr1	UTSW	10	19,483,041 (GRCm39)	missense	possibly damaging	0.61
T0975:Ifngr1	UTSW	10	19,485,221 (GRCm39)	missense	probably damaging	0.98
X0005:Ifngr1	UTSW	10	19,485,221 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTAATCCAGCCCTTCAAAGAAGC -3'
(R):5'- ACACAAGTACTGCATGAATGTGG -3'

Sequencing Primer
(F):5'- CCCTTCAAAGAAGCTAACTGGATGG -3'
(R):5'- CATGTGGACAAAGCACCA -3'

Posted On

2014-12-04