Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Ifngr1'

714265

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19467697-19485977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19483041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 265 (V265A)

Ref Sequence

ENSEMBL: ENSMUSP00000020188 (fasta)

Gene Model

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

AlphaFold

P15261

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020188
AA Change: V265A

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: V265A

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh8a1	T	A	10: 21,265,032 (GRCm39)	S220T	probably benign	Het
Ankrd66	A	G	17: 43,845,811 (GRCm39)	V192A	probably benign	Het
Aoc1l3	A	G	6: 48,965,774 (GRCm39)	Y594C	probably damaging	Het
Atp1a2	A	G	1: 172,103,494 (GRCm39)	Y1009H	probably benign	Het
Bptf	A	C	11: 106,935,411 (GRCm39)	M142R	probably damaging	Het
Brwd1	C	T	16: 95,845,703 (GRCm39)	R740Q	probably damaging	Het
C3	A	G	17: 57,531,169 (GRCm39)	M339T	probably benign	Het
Catsperg1	A	G	7: 28,897,772 (GRCm39)		probably null	Het
Cep295nl	T	A	11: 118,224,446 (GRCm39)	K133*	probably null	Het
Copg2	A	T	6: 30,793,786 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,402 (GRCm39)	D89E	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,765,209 (GRCm39)	R826L	probably damaging	Het
Dlg4	G	T	11: 69,922,065 (GRCm39)	K162N	probably damaging	Het
Dna2	T	A	10: 62,790,072 (GRCm39)	L185H	probably benign	Het
Dock9	C	T	14: 121,787,601 (GRCm39)		probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Etl4	A	G	2: 20,813,926 (GRCm39)	I1322V	probably benign	Het
Exd1	T	C	2: 119,355,064 (GRCm39)	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,462 (GRCm39)	T786A	probably damaging	Het
Gm29106	A	C	1: 118,127,644 (GRCm39)	E445D	possibly damaging	Het
Gm5592	T	C	7: 40,935,876 (GRCm39)	L126P	probably damaging	Het
Grep1	A	G	17: 23,936,187 (GRCm39)	Y19H	unknown	Het
Gtf3c2	T	G	5: 31,325,773 (GRCm39)	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,294,100 (GRCm39)	R669S	probably benign	Het
Hivep1	A	G	13: 42,337,252 (GRCm39)	T2444A	probably benign	Het
Hspg2	A	G	4: 137,238,380 (GRCm39)	E289G	probably damaging	Het
Htatip2	C	A	7: 49,408,987 (GRCm39)	T9K	unknown	Het
Ift140	A	G	17: 25,252,925 (GRCm39)	N359D	probably benign	Het
Mat1a	A	G	14: 40,836,803 (GRCm39)	R178G	probably damaging	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Myh14	C	T	7: 44,273,743 (GRCm39)		probably null	Het
Myof	A	G	19: 37,966,096 (GRCm39)		probably null	Het
Nfe2l1	G	T	11: 96,718,453 (GRCm39)	D27E	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Or4a15	A	T	2: 89,193,243 (GRCm39)	C177S	probably damaging	Het
Or4k51	T	C	2: 111,585,218 (GRCm39)	V208A	probably benign	Het
Or5p61	A	G	7: 107,758,468 (GRCm39)	V204A	probably benign	Het
Or8s5	A	G	15: 98,238,144 (GRCm39)	V242A	possibly damaging	Het
Plec	C	A	15: 76,067,987 (GRCm39)	Q1139H	unknown	Het
Plxna2	T	A	1: 194,326,692 (GRCm39)	S209T	probably benign	Het
Plxnd1	T	C	6: 115,940,277 (GRCm39)	E1369G	possibly damaging	Het
Psd3	T	C	8: 68,363,487 (GRCm39)	I3V	unknown	Het
Pwp1	T	A	10: 85,714,428 (GRCm39)	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,775,354 (GRCm39)	M1I	probably null	Het
Rad54l2	T	C	9: 106,585,488 (GRCm39)	K759R	probably benign	Het
Rims2	G	T	15: 39,300,724 (GRCm39)	V344L	probably damaging	Het
Robo1	G	A	16: 72,803,718 (GRCm39)	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,282,745 (GRCm39)		probably benign	Het
Serhl	A	C	15: 82,987,167 (GRCm39)	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,075,392 (GRCm39)		probably null	Het
Slc27a1	T	A	8: 72,032,808 (GRCm39)	Y248*	probably null	Het
Slitrk3	T	A	3: 72,958,616 (GRCm39)	E52V	possibly damaging	Het
Snx2	T	C	18: 53,343,415 (GRCm39)	V271A	probably benign	Het
Snx9	C	A	17: 5,949,768 (GRCm39)	P156Q	probably damaging	Het
Spag6	C	A	2: 18,715,369 (GRCm39)	Y71*	probably null	Het
Speer4a3	T	A	5: 26,156,569 (GRCm39)	K137*	probably null	Het
Speg	A	G	1: 75,394,377 (GRCm39)	D1724G	probably damaging	Het
Syt7	A	G	19: 10,421,532 (GRCm39)	N572S	probably damaging	Het
Thoc2l	C	A	5: 104,668,644 (GRCm39)	S1055R	probably benign	Het
Ticam2	A	G	18: 46,693,766 (GRCm39)	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,488,256 (GRCm39)	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663 (GRCm39)	T519A	possibly damaging	Het
Trim43b	G	A	9: 88,973,608 (GRCm39)	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,852,089 (GRCm39)	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,158 (GRCm39)	D97G	probably benign	Het
Uncx	A	G	5: 139,532,475 (GRCm39)	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Vmn2r51	A	T	7: 9,833,816 (GRCm39)	H407Q	probably damaging	Het
Wdfy4	C	T	14: 32,855,518 (GRCm39)	E699K		Het
Wdr95	A	G	5: 149,504,165 (GRCm39)	T324A	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
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
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'- GAAGAGTCTGACCTAGCTACGAG -3'
(R):5'- CGCCAGGGTACATTTCCAATG -3'

Sequencing Primer
(F):5'- GCTGAGTTCTCACGCACACTG -3'
(R):5'- GCCAGGGTACATTTCCAATGATACTG -3'

Posted On

2022-06-15