Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Il7r'

24493

Institutional Source

Beutler Lab

Gene Symbol

Il7r

Ensembl Gene

ENSMUSG00000003882

Gene Name

interleukin 7 receptor

Synonyms

IL-7 receptor alpha chain, CD127, IL-7Ralpha

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0278 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

9505874-9530262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9516423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 126 (I126K)

Ref Sequence

ENSEMBL: ENSMUSP00000154530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003981] [ENSMUST00000228782]

AlphaFold

P16872

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003981
AA Change: I126K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: I126K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	25	37	N/A	INTRINSIC
FN3	129	216	1.09e1	SMART
transmembrane domain	241	263	N/A	INTRINSIC
low complexity region	413	422	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228673

Predicted Effect

probably damaging
Transcript: ENSMUST00000228782
AA Change: I126K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

MGI Phenotype

FUNCTION: Interleukin-7 is a glycoptorein involved in the regulation of lymphopoiesis. Response of cells to IL7 is dependent on the presence of the interleukin 7 receptor (IL7R); the active receptor is a alpha/gamma chain heterodimer. The gamma(c) chain, which also associates with the interleukin-2 receptor, serves primarily to activate signal transduction by the IL7R complex, while the alpha chain of IL7R determines specific signaling events through its association with cytoplasmic signaling molecules. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,215 (GRCm39)	S3429R	probably damaging	Het
Abca3	A	G	17: 24,600,894 (GRCm39)	D436G	probably benign	Het
Acacb	C	A	5: 114,371,320 (GRCm39)	Y1816*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,754,872 (GRCm39)	I657V	probably benign	Het
Akap1	A	G	11: 88,736,020 (GRCm39)	V214A	probably benign	Het
Ankrd42	T	C	7: 92,280,865 (GRCm39)	R22G	possibly damaging	Het
Apc2	C	T	10: 80,148,647 (GRCm39)	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,273,652 (GRCm39)	I441T	probably damaging	Het
Cenpu	G	A	8: 47,031,344 (GRCm39)	A242T	probably damaging	Het
Col6a6	A	T	9: 105,644,487 (GRCm39)	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,094,516 (GRCm39)	T58A	probably benign	Het
Ddx6	T	G	9: 44,542,722 (GRCm39)	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,543,305 (GRCm39)	N2288K	probably benign	Het
Egfl8	A	T	17: 34,833,342 (GRCm39)		probably null	Het
Elmo2	A	T	2: 165,139,287 (GRCm39)	I420N	probably damaging	Het
Elovl4	A	G	9: 83,665,248 (GRCm39)	F113L	probably benign	Het
Fancd2	T	A	6: 113,525,409 (GRCm39)		probably null	Het
Fbxl13	A	G	5: 21,728,908 (GRCm39)	V456A	probably benign	Het
Fgfr2	A	T	7: 129,863,592 (GRCm39)		probably null	Het
Fkbpl	A	T	17: 34,864,384 (GRCm39)	R51*	probably null	Het
Fn3krp	G	A	11: 121,312,406 (GRCm39)	V40M	probably damaging	Het
Fnip1	A	G	11: 54,380,169 (GRCm39)		probably null	Het
Gm15446	A	T	5: 110,091,281 (GRCm39)	Q511L	probably benign	Het
Gm7334	A	G	17: 51,006,289 (GRCm39)	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,784,204 (GRCm39)	T282S	possibly damaging	Het
Hspa9	A	G	18: 35,073,963 (GRCm39)	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,053,155 (GRCm39)	S128T	probably benign	Het
Kcnj8	T	C	6: 142,516,074 (GRCm39)	E11G	probably benign	Het
Klkb1	A	C	8: 45,725,446 (GRCm39)	F498V	probably benign	Het
Lama1	A	G	17: 68,117,178 (GRCm39)	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,310,943 (GRCm39)	V71A	probably benign	Het
Lin9	T	C	1: 180,493,488 (GRCm39)	I198T	probably damaging	Het
Lrrc7	T	A	3: 157,885,432 (GRCm39)	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,326,424 (GRCm39)	T519A	probably benign	Het
Or10w1	C	A	19: 13,632,128 (GRCm39)	L112I	probably damaging	Het
Or10w1	T	A	19: 13,632,129 (GRCm39)	L112H	probably damaging	Het
Or1d2	T	C	11: 74,256,028 (GRCm39)	F178L	probably damaging	Het
Or4a74	G	T	2: 89,440,108 (GRCm39)	L113M	probably damaging	Het
Or4a74	A	T	2: 89,440,107 (GRCm39)	L113Q	probably damaging	Het
Or5al7	A	T	2: 85,992,923 (GRCm39)	Y123*	probably null	Het
Or7h8	G	T	9: 20,124,182 (GRCm39)	C179F	probably damaging	Het
Parp4	A	G	14: 56,844,980 (GRCm39)	R624G	probably damaging	Het
Pex16	C	T	2: 92,211,401 (GRCm39)	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,493,902 (GRCm39)	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Prss43	T	A	9: 110,656,430 (GRCm39)	M39K	probably benign	Het
Psd4	T	C	2: 24,284,450 (GRCm39)	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,816 (GRCm39)	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl10l	A	G	12: 66,331,130 (GRCm39)	M1T	probably null	Het
Sec16a	A	G	2: 26,318,328 (GRCm39)	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,827,052 (GRCm39)	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,236,263 (GRCm39)	S497T	probably benign	Het
Spata13	A	G	14: 60,929,537 (GRCm39)	Y365C	probably benign	Het
Trim5	T	C	7: 103,928,882 (GRCm39)	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,659,194 (GRCm39)	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,821,987 (GRCm39)	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,449,644 (GRCm39)	V198D	probably damaging	Het
Wapl	A	G	14: 34,414,569 (GRCm39)	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,119,778 (GRCm39)	H194N	probably benign	Het
Zfp212	C	T	6: 47,903,453 (GRCm39)	R13W	probably damaging	Het

Other mutations in Il7r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Il7r	APN	15	9,525,195 (GRCm39)	missense	probably damaging	1.00
IGL01016:Il7r	APN	15	9,510,294 (GRCm39)	missense	probably damaging	0.98
IGL01094:Il7r	APN	15	9,508,085 (GRCm39)	missense	possibly damaging	0.94
IGL01406:Il7r	APN	15	9,508,300 (GRCm39)	nonsense	probably null
IGL02135:Il7r	APN	15	9,508,092 (GRCm39)	missense	probably benign	0.11
IGL02642:Il7r	APN	15	9,513,133 (GRCm39)	splice site	probably benign
happy	UTSW	15	9,508,273 (GRCm39)	missense	probably benign
R0322:Il7r	UTSW	15	9,510,301 (GRCm39)	missense	probably benign	0.14
R1075:Il7r	UTSW	15	9,516,543 (GRCm39)	missense	probably benign	0.03
R4364:Il7r	UTSW	15	9,513,014 (GRCm39)	missense	probably damaging	1.00
R4451:Il7r	UTSW	15	9,513,034 (GRCm39)	missense	probably benign	0.13
R5527:Il7r	UTSW	15	9,513,010 (GRCm39)	missense	probably benign	0.21
R5575:Il7r	UTSW	15	9,508,273 (GRCm39)	missense	probably benign
R6949:Il7r	UTSW	15	9,508,090 (GRCm39)	missense	probably damaging	1.00
R7479:Il7r	UTSW	15	9,513,117 (GRCm39)	missense	probably damaging	1.00
R7533:Il7r	UTSW	15	9,508,047 (GRCm39)	missense	probably benign	0.02
R7682:Il7r	UTSW	15	9,513,013 (GRCm39)	missense	probably damaging	1.00
R8394:Il7r	UTSW	15	9,516,504 (GRCm39)	missense	probably damaging	1.00
R8467:Il7r	UTSW	15	9,512,973 (GRCm39)	missense	probably benign	0.32
R9092:Il7r	UTSW	15	9,510,270 (GRCm39)	missense	probably benign	0.01
Z1177:Il7r	UTSW	15	9,510,315 (GRCm39)	missense	probably benign	0.00
Z1177:Il7r	UTSW	15	9,508,143 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GATGGCCTGCTTTAGCAATATTCCTCA -3'
(R):5'- GGGCTCTTTTACGAGTGAAATGCCTA -3'

Sequencing Primer
(F):5'- GTCAGACACTCTTTCATAGCTGAG -3'
(R):5'- CGAGTGAAATGCCTAACTCTTAAC -3'

Posted On

2013-04-16