Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01952:Ifngr2'

181067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ifngr2

Ensembl Gene

ENSMUSG00000022965

Gene Name

interferon gamma receptor 2

Synonyms

Ifgt, Ifgr2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01952

Quality Score

Status

Chromosome

Chromosomal Location

91547072-91565623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91559988 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 137 (P137S)

Ref Sequence

ENSEMBL: ENSMUSP00000023687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023687] [ENSMUST00000127644]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023687
AA Change: P137S

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

SMART Domains

Protein: ENSMUSP00000023687
Gene: ENSMUSG00000022965
AA Change: P137S

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	4	121	4.7e-29	PFAM
FN3	135	216	1.49e0	SMART
transmembrane domain	244	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130404

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene develop normally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astl	T	C	2: 127,342,478		probably null	Het
Bod1l	C	T	5: 41,816,954	C2339Y	possibly damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Celsr1	T	A	15: 85,963,223	I1438F	probably benign	Het
Dbr1	T	A	9: 99,582,412	N297K	possibly damaging	Het
Dmxl1	A	G	18: 49,890,654	H1668R	probably benign	Het
Dnajb11	A	G	16: 22,865,500	E91G	probably damaging	Het
Elmsan1	G	A	12: 84,173,266	P305S	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Grin2d	C	A	7: 45,862,280	R247L	probably benign	Het
Gzf1	G	A	2: 148,684,061	A151T	probably benign	Het
Hacl1	C	T	14: 31,641,122		probably benign	Het
Hivep2	C	A	10: 14,142,331	T1854K	possibly damaging	Het
Htr1d	T	C	4: 136,443,561	V367A	probably benign	Het
Ifi208	T	C	1: 173,679,031	S127P	possibly damaging	Het
Lcn9	T	C	2: 25,824,538	L138P	probably damaging	Het
Mdn1	T	C	4: 32,723,657	V2531A	possibly damaging	Het
Meioc	A	T	11: 102,672,185	I70F	possibly damaging	Het
Mlph	A	C	1: 90,933,471	D276A	probably benign	Het
Myh1	T	A	11: 67,220,392		probably null	Het
Nlrp9a	G	A	7: 26,558,019	S265N	probably benign	Het
Ofcc1	G	A	13: 40,280,861	A22V	probably damaging	Het
Olfr736	T	A	14: 50,393,403	F216I	probably benign	Het
Pisd	C	A	5: 32,739,132		probably null	Het
Prlr	A	G	15: 10,328,342	D301G	possibly damaging	Het
Ptk2	T	C	15: 73,229,931	E810G	probably damaging	Het
Slco1b2	T	G	6: 141,671,230	F430V	probably benign	Het
Supt6	T	C	11: 78,225,760	K646R	probably benign	Het
Tmem260	C	T	14: 48,472,476	A52V	probably damaging	Het
Tmpo	G	A	10: 91,163,242	R228C	probably benign	Het
Tulp1	G	A	17: 28,356,424	T103M	probably damaging	Het
Vwa5b1	G	A	4: 138,581,217	P770S	probably benign	Het
Wdr63	T	C	3: 146,097,163	H91R	probably damaging	Het
Zfp639	A	G	3: 32,515,347	Y18C	probably damaging	Het

Other mutations in Ifngr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03087:Ifngr2	APN	16	91563004	makesense	probably null
R1662:Ifngr2	UTSW	16	91560596	missense	probably benign	0.01
R2094:Ifngr2	UTSW	16	91561779	critical splice donor site	probably null
R2128:Ifngr2	UTSW	16	91562873	nonsense	probably null
R4580:Ifngr2	UTSW	16	91558018	missense	probably benign	0.01
R4665:Ifngr2	UTSW	16	91560038	missense	possibly damaging	0.51
R5845:Ifngr2	UTSW	16	91555059	missense	probably benign	0.39
R5896:Ifngr2	UTSW	16	91561765	missense	possibly damaging	0.53
R6980:Ifngr2	UTSW	16	91560007	missense	probably damaging	1.00
R7475:Ifngr2	UTSW	16	91557909	missense	unknown
R8387:Ifngr2	UTSW	16	91561647	missense	probably damaging	1.00

Posted On

2014-05-07