Mutagenetix > Incidental Mutation

Incidental Mutation 'R2066:Il2rg'

226721

Institutional Source

Beutler Lab

Gene Symbol

Il2rg

Ensembl Gene

ENSMUSG00000031304

Gene Name

interleukin 2 receptor, gamma chain

Synonyms

common cytokine receptor gamma chain, gc, gamma C receptor, common gamma chain, gamma(c), CD132, [g]c

MMRRC Submission

040071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2066 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

101264378-101268255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101267810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 57 (L57P)

Ref Sequence

ENSEMBL: ENSMUSP00000033664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033664] [ENSMUST00000101358] [ENSMUST00000117736] [ENSMUST00000135038]

AlphaFold

P34902

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033664
AA Change: L57P

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033664
Gene: ENSMUSG00000031304
AA Change: L57P

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:IL6Ra-bind	56	151	1.1e-12	PFAM
FN3	154	235	2.44e-5	SMART
transmembrane domain	263	285	N/A	INTRINSIC
low complexity region	336	350	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101358

SMART Domains

Protein: ENSMUSP00000098910
Gene: ENSMUSG00000090141

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
low complexity region	146	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117736

SMART Domains

Protein: ENSMUSP00000112905
Gene: ENSMUSG00000092463

Domain	Start	End	E-Value	Type
FN3	88	169	2.44e-5	SMART
transmembrane domain	192	214	N/A	INTRINSIC
Pfam:Il2rg	262	359	1.1e-32	PFAM
low complexity region	404	423	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127538

Predicted Effect

probably benign
Transcript: ENSMUST00000135038

SMART Domains

Protein: ENSMUSP00000123318
Gene: ENSMUSG00000031304

Domain	Start	End	E-Value	Type
FN3	44	125	2.44e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145074

Meta Mutation Damage Score

0.7086

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that is a common subunit of several interleukin receptor complexes. These receptors are comprised of alpha and beta subunits in addition to this gamma subunit. Signalling through this pathway in important in immune cell differentiation and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Males hemizygous for targeted null mutations exhibit markedly reduced numbers of T and B cells, lack NK cells and Peyer's patches, and have severely reduced numbers of gut-associated intraepithelial lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Acadl	C	T	1: 66,841,746		probably null	Het
Acss1	G	A	2: 150,668,131	Q23*	probably null	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ano5	T	G	7: 51,585,386	L639R	probably damaging	Het
Arhgap26	T	C	18: 39,306,728	S71P	probably damaging	Het
B3gnt2	A	G	11: 22,836,735	L151P	probably damaging	Het
Bach1	A	T	16: 87,729,625	K658N	probably damaging	Het
Bdnf	C	A	2: 109,723,902	T207K	probably damaging	Het
Bod1l	G	T	5: 41,805,156	T2746K	probably damaging	Het
Brwd1	A	G	16: 96,046,465	S652P	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Clasp2	T	A	9: 113,906,157	I1021N	possibly damaging	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cntn6	C	T	6: 104,861,822	R946*	probably null	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnajc13	A	T	9: 104,221,441	I471N	probably benign	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Emx2	A	G	19: 59,461,698	N149S	probably benign	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Filip1	A	G	9: 79,820,216	S374P	probably damaging	Het
Fry	T	A	5: 150,370,119		probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Hdlbp	A	G	1: 93,421,880		probably benign	Het
Hunk	G	A	16: 90,481,245		probably null	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Ints1	A	G	5: 139,767,496	V720A	probably benign	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Jpt2	G	A	17: 24,948,739	Q79*	probably null	Het
Lingo2	A	G	4: 35,709,179	L267P	probably benign	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Meiob	G	T	17: 24,818,316	R56L	probably damaging	Het
Mindy3	A	T	2: 12,419,249	S2T	probably damaging	Het
Mrm3	A	T	11: 76,250,321	D385V	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nbea	A	G	3: 55,968,146	V1701A	probably damaging	Het
Nipal4	T	G	11: 46,156,795	D104A	probably damaging	Het
Npas4	A	G	19: 4,987,414	V284A	probably damaging	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Obscn	G	A	11: 59,135,732	A215V	possibly damaging	Het
Olfr1218	A	G	2: 89,054,899	Y176H	probably damaging	Het
Olfr870	G	T	9: 20,171,554	Q6K	probably benign	Het
Olfr938	T	C	9: 39,078,214	Y177C	probably damaging	Het
Pgs1	G	A	11: 118,014,570		probably benign	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Phldb2	A	T	16: 45,770,758	L970Q	probably damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Ppip5k1	A	G	2: 121,342,871		probably benign	Het
Prune2	A	G	19: 17,120,678	D1182G	possibly damaging	Het
Psg25	G	A	7: 18,529,562	T112I	probably damaging	Het
Sec61g	T	C	11: 16,508,124	T24A	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Sorbs1	T	C	19: 40,365,028		probably null	Het
Sox2	C	A	3: 34,651,307	Q298K	possibly damaging	Het
Spatc1	T	A	15: 76,283,537		probably null	Het
Szt2	T	C	4: 118,373,980	M2529V	unknown	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tpp2	T	G	1: 43,978,438	I734S	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ttc28	C	A	5: 111,225,933	F1078L	probably benign	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vstm2a	A	T	11: 16,261,483	I98F	probably benign	Het
Zdhhc13	T	A	7: 48,816,427	V284D	probably benign	Het
Zfp668	C	A	7: 127,867,031	R327L	probably damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	Het

Other mutations in Il2rg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Il2rg	APN	X	101264848	unclassified	probably benign
deus	UTSW	X	101267810	missense	possibly damaging	0.74
R2062:Il2rg	UTSW	X	101267810	missense	possibly damaging	0.74
R2063:Il2rg	UTSW	X	101267810	missense	possibly damaging	0.74
R2064:Il2rg	UTSW	X	101267810	missense	possibly damaging	0.74
R2065:Il2rg	UTSW	X	101267810	missense	possibly damaging	0.74
R2068:Il2rg	UTSW	X	101267810	missense	possibly damaging	0.74
Z1191:Il2rg	UTSW	X	101265381	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGATTGGGTCCTCAAGCAGTC -3'
(R):5'- CTAGGACCAGAGGGAGTTGTTG -3'

Sequencing Primer
(F):5'- GGGTCCTCAAGCAGTCTCTCC -3'
(R):5'- GGCCTGCTAGTGCTCACTATAATG -3'

Posted On

2014-09-17