Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Il2rg'

226900

Institutional Source

Beutler Lab

Gene Symbol

Il2rg

Ensembl Gene

ENSMUSG00000031304

Gene Name

interleukin 2 receptor, gamma chain

Synonyms

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

MMRRC Submission

040073-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R2068 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

100307991-100311861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100311416 bp (GRCm39)

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: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Abcb5	A	T	12: 118,904,303 (GRCm39)	C162*	probably null	Het
Akr1c19	A	T	13: 4,288,391 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bsn	T	G	9: 107,987,883 (GRCm39)		probably benign	Het
Bsn	T	A	9: 108,003,749 (GRCm39)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,060,390 (GRCm39)	T453A	probably damaging	Het
C6	G	T	15: 4,820,552 (GRCm39)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cdh20	A	T	1: 110,065,666 (GRCm39)	R647*	probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cmya5	T	A	13: 93,227,032 (GRCm39)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,215,943 (GRCm39)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,899,022 (GRCm39)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah6	A	G	6: 72,998,165 (GRCm39)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Eps8	A	T	6: 137,499,172 (GRCm39)	W239R	probably benign	Het
Fance	T	C	17: 28,539,799 (GRCm39)	F83S	possibly damaging	Het
Fn1	A	G	1: 71,639,598 (GRCm39)	V1731A	probably damaging	Het
Gak	G	T	5: 108,718,091 (GRCm39)	T1244K	probably benign	Het
Gas8	T	A	8: 124,253,276 (GRCm39)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,375,579 (GRCm39)		noncoding transcript	Het
Gm9837	T	A	11: 53,361,092 (GRCm39)		probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hdac3	C	A	18: 38,076,569 (GRCm39)	G257V	probably damaging	Het
Heg1	A	G	16: 33,547,960 (GRCm39)	T916A	probably benign	Het
Herc2	G	T	7: 55,782,245 (GRCm39)	G1311C	probably damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Itm2b	T	C	14: 73,600,575 (GRCm39)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Klrg2	G	A	6: 38,613,928 (GRCm39)	T25I	probably benign	Het
Lcn5	G	A	2: 25,548,053 (GRCm39)	V21M	probably damaging	Het
Liat1	T	C	11: 75,891,077 (GRCm39)	S64P	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,502,995 (GRCm39)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,254,067 (GRCm39)	R1W	probably null	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mpzl2	G	A	9: 44,955,169 (GRCm39)		probably null	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Notch3	A	G	17: 32,354,482 (GRCm39)	C1748R	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oasl2	A	C	5: 115,049,298 (GRCm39)	D466A	probably benign	Het
Opa3	T	C	7: 18,978,739 (GRCm39)	I68T	possibly damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or8g37	T	C	9: 39,731,846 (GRCm39)	F304L	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,127,660 (GRCm39)	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 115,972,126 (GRCm39)	L768*	probably null	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Pramel11	T	C	4: 143,623,482 (GRCm39)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,501,745 (GRCm39)	T845A	probably benign	Het
Rad21l	T	C	2: 151,509,927 (GRCm39)	H58R	probably damaging	Het
Rgma	A	C	7: 73,059,379 (GRCm39)	D161A	probably damaging	Het
Scai	T	C	2: 39,013,025 (GRCm39)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,582,417 (GRCm39)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,472,087 (GRCm39)		probably null	Het
Slc12a3	A	G	8: 95,072,456 (GRCm39)	D658G	probably damaging	Het
Slc5a3	A	G	16: 91,874,128 (GRCm39)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,910,627 (GRCm39)	I649V	probably damaging	Het
Thbs1	C	T	2: 117,954,018 (GRCm39)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,099,687 (GRCm39)	R400L	probably benign	Het
Tle4	A	T	19: 14,427,113 (GRCm39)	Y769*	probably null	Het
Trmt5	A	T	12: 73,331,444 (GRCm39)		probably null	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubac2	T	A	14: 122,145,691 (GRCm39)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,165,844 (GRCm39)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,627,273 (GRCm39)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,269,613 (GRCm39)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,465,837 (GRCm39)	G449D	probably benign	Het

Other mutations in Il2rg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Il2rg	APN	X	100,308,454 (GRCm39)	unclassified	probably benign
deus	UTSW	X	100,311,416 (GRCm39)	missense	possibly damaging	0.74
R2062:Il2rg	UTSW	X	100,311,416 (GRCm39)	missense	possibly damaging	0.74
R2063:Il2rg	UTSW	X	100,311,416 (GRCm39)	missense	possibly damaging	0.74
R2064:Il2rg	UTSW	X	100,311,416 (GRCm39)	missense	possibly damaging	0.74
R2065:Il2rg	UTSW	X	100,311,416 (GRCm39)	missense	possibly damaging	0.74
R2066:Il2rg	UTSW	X	100,311,416 (GRCm39)	missense	possibly damaging	0.74
Z1191:Il2rg	UTSW	X	100,308,987 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

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

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

Posted On

2014-09-17