Mutagenetix > Incidental Mutation

Incidental Mutation 'R8178:Ifngr1'

634495

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

067603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8178 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19467697-19485977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19485241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 413 (I413M)

Ref Sequence

ENSEMBL: ENSMUSP00000020188 (fasta)

Gene Model

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

AlphaFold

P15261

Predicted Effect

probably benign
Transcript: ENSMUST00000020188
AA Change: I413M

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: I413M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,935,699 (GRCm39)	I276V		Het
Acsm5	C	A	7: 119,141,618 (GRCm39)	H538N	probably damaging	Het
Adamts17	A	G	7: 66,499,464 (GRCm39)	I4V	possibly damaging	Het
Adgrg3	T	C	8: 95,761,675 (GRCm39)	V146A	probably damaging	Het
Ankrd52	T	A	10: 128,225,170 (GRCm39)	L877Q	probably damaging	Het
Aox3	A	T	1: 58,189,481 (GRCm39)	D394V	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	A	G	1: 34,761,983 (GRCm39)	E413G	unknown	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Arsk	G	T	13: 76,239,861 (GRCm39)	T114K	probably damaging	Het
Bpifb2	T	C	2: 153,733,876 (GRCm39)	V406A	probably damaging	Het
Cbr3	C	A	16: 93,480,393 (GRCm39)	Q61K	probably benign	Het
Ccdc73	C	T	2: 104,821,557 (GRCm39)	S502L	probably benign	Het
Cdhr3	A	T	12: 33,098,931 (GRCm39)		probably null	Het
Cep170b	T	A	12: 112,705,719 (GRCm39)	M1159K	possibly damaging	Het
Cep295	A	T	9: 15,244,836 (GRCm39)	S1159T		Het
Cit	C	T	5: 116,107,131 (GRCm39)	R1088W	probably damaging	Het
Col16a1	A	T	4: 129,947,270 (GRCm39)	H205L	unknown	Het
Cpt1c	T	G	7: 44,609,077 (GRCm39)	H748P	probably damaging	Het
Cstdc4	T	G	16: 36,006,772 (GRCm39)	Y35*	probably null	Het
Dcaf8	A	T	1: 172,013,886 (GRCm39)	D359V	probably benign	Het
Dcstamp	A	G	15: 39,618,422 (GRCm39)	Y277C	probably damaging	Het
Dnah10	A	G	5: 124,832,790 (GRCm39)	K898R	probably benign	Het
Dnah6	T	A	6: 73,037,208 (GRCm39)	T3345S	probably benign	Het
Dpp6	A	T	5: 27,803,815 (GRCm39)	N254Y	probably damaging	Het
F2	A	T	2: 91,460,618 (GRCm39)		probably null	Het
Fam216b	G	C	14: 78,322,504 (GRCm39)	H67D	possibly damaging	Het
Fbxl17	A	C	17: 63,794,967 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,547,026 (GRCm39)	M59K	probably damaging	Het
Glud1	G	A	14: 34,065,664 (GRCm39)	G554D	probably damaging	Het
Gys2	C	T	6: 142,402,138 (GRCm39)	G234R	probably damaging	Het
Inpp5a	C	T	7: 139,118,153 (GRCm39)	R236C	probably damaging	Het
Kcnip3	A	G	2: 127,323,934 (GRCm39)	S32P	probably benign	Het
Lingo3	T	A	10: 80,670,464 (GRCm39)	T489S	possibly damaging	Het
Lrpprc	A	G	17: 85,079,575 (GRCm39)	L227P	probably damaging	Het
Morn1	A	G	4: 155,213,160 (GRCm39)	Q356R	probably benign	Het
Naxd	A	C	8: 11,561,987 (GRCm39)	K275Q	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or1ad8	T	A	11: 50,898,437 (GRCm39)	C213S	probably damaging	Het
Or5aq6	C	T	2: 86,923,220 (GRCm39)	V174M	possibly damaging	Het
Or7e175	T	C	9: 20,048,571 (GRCm39)	V53A	possibly damaging	Het
Pdxk	C	T	10: 78,289,338 (GRCm39)	V38M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pes1	T	C	11: 3,927,718 (GRCm39)	S482P	probably benign	Het
Pglyrp1	T	A	7: 18,618,657 (GRCm39)	F3I	unknown	Het
Pira13	T	C	7: 3,824,260 (GRCm39)	K631R	unknown	Het
Plce1	T	A	19: 38,761,423 (GRCm39)	F2092I	possibly damaging	Het
Pms1	A	G	1: 53,246,505 (GRCm39)	S345P	probably benign	Het
Pom121l12	C	A	11: 14,550,011 (GRCm39)	P239H	probably damaging	Het
Prdm2	A	G	4: 142,859,018 (GRCm39)	I1424T	probably benign	Het
Prmt6	A	G	3: 110,158,140 (GRCm39)	Y50H	probably damaging	Het
Rbm39	T	C	2: 155,996,195 (GRCm39)	I397V	probably benign	Het
Rnf157	A	G	11: 116,238,307 (GRCm39)	V519A	possibly damaging	Het
Sec23a	T	C	12: 59,053,980 (GRCm39)	E6G	possibly damaging	Het
Shank1	T	C	7: 43,962,748 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,105,505 (GRCm39)	I378V	probably benign	Het
Smn1	T	A	13: 100,267,303 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,874,975 (GRCm39)	F632S	possibly damaging	Het
Sun5	T	C	2: 153,698,131 (GRCm39)		probably null	Het
Tial1	T	C	7: 128,046,614 (GRCm39)	R209G	probably benign	Het
Trhde	T	C	10: 114,244,598 (GRCm39)	I963V	possibly damaging	Het
Tssc4	G	T	7: 142,623,932 (GRCm39)	R80L	possibly damaging	Het
Ttn	A	T	2: 76,642,852 (GRCm39)	N13261K	probably damaging	Het
Ugdh	A	T	5: 65,581,005 (GRCm39)		probably null	Het
Vmn1r218	A	T	13: 23,321,472 (GRCm39)	E273V	probably benign	Het
Vmn2r92	T	A	17: 18,386,988 (GRCm39)	F109Y	possibly damaging	Het
Zcchc7	A	G	4: 44,931,398 (GRCm39)	S196G	probably benign	Het
Zfp788	T	A	7: 41,298,335 (GRCm39)	C324S	probably damaging	Het
Zfp976	T	C	7: 42,262,959 (GRCm39)	T294A	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
R2484:Ifngr1	UTSW	10	19,477,163 (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
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

Posted On

2020-07-13