Mutagenetix > Incidental Mutation

Incidental Mutation 'R7682:Il7r'

592842

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

045748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9505874-9530262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9513013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 165 (H165Q)

Ref Sequence

ENSEMBL: ENSMUSP00000003981 (fasta)

Gene Model

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

AlphaFold

P16872

PDB Structure

Cytokine receptor complex - Crystal form 1A [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 1B [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003981
AA Change: H165Q

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

SMART Domains

Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: H165Q

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

probably damaging
Transcript: ENSMUST00000228782
AA Change: H165Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,556,373 (GRCm39)	S196T	probably benign	Het
Abcc5	T	C	16: 20,186,803 (GRCm39)	D977G	probably damaging	Het
Acot2	T	C	12: 84,034,698 (GRCm39)	V8A	probably benign	Het
Adamts9	T	A	6: 92,857,679 (GRCm39)	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,942,407 (GRCm39)	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,504,934 (GRCm39)	K275R	probably benign	Het
Alpk1	T	C	3: 127,466,195 (GRCm39)	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,582,539 (GRCm39)	I119N	probably damaging	Het
Ank3	A	T	10: 69,824,065 (GRCm39)	E129D	possibly damaging	Het
Brca2	T	A	5: 150,466,618 (GRCm39)	H2127Q	probably benign	Het
Brd4	A	G	17: 32,420,134 (GRCm39)	F1008S	unknown	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Casp3	A	G	8: 47,085,420 (GRCm39)	Y41C	probably benign	Het
Ces4a	A	T	8: 105,873,297 (GRCm39)	T381S	probably benign	Het
Clstn1	A	G	4: 149,710,558 (GRCm39)	T77A	possibly damaging	Het
Cul7	G	T	17: 46,966,521 (GRCm39)	V615L	probably benign	Het
Dnpep	A	G	1: 75,293,384 (GRCm39)	F24L	probably damaging	Het
Efcab3	T	A	11: 104,855,174 (GRCm39)		probably null	Het
Emsy	G	A	7: 98,239,905 (GRCm39)	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,191,282 (GRCm39)	C34S	possibly damaging	Het
Fan1	C	A	7: 64,022,512 (GRCm39)	G247V	probably benign	Het
Fbxl9	C	A	8: 106,041,916 (GRCm39)	R304L	possibly damaging	Het
Glipr1l3	T	G	10: 111,977,777 (GRCm39)	H218P	probably benign	Het
Gm14305	T	A	2: 176,412,703 (GRCm39)	S198R	probably benign	Het
Gm14326	T	C	2: 177,590,274 (GRCm39)	Y29C	probably damaging	Het
Gm45713	C	T	7: 44,783,426 (GRCm39)	V147I	probably benign	Het
Gpr149	C	T	3: 62,438,160 (GRCm39)	D666N	probably damaging	Het
Gpr183	A	G	14: 122,192,152 (GRCm39)	I123T	possibly damaging	Het
Krt73	A	G	15: 101,710,480 (GRCm39)	F85L	probably benign	Het
Lrrc8d	A	G	5: 105,960,657 (GRCm39)	T356A	probably damaging	Het
Marco	A	G	1: 120,421,771 (GRCm39)		probably null	Het
Mettl14	T	A	3: 123,177,253 (GRCm39)	E49D	possibly damaging	Het
Mrap	T	A	16: 90,546,110 (GRCm39)		probably null	Het
Mrps34	C	T	17: 25,114,852 (GRCm39)	A152V	probably benign	Het
Nfasc	T	A	1: 132,501,511 (GRCm39)	Y1163F	unknown	Het
Nfic	T	C	10: 81,256,334 (GRCm39)	D110G	probably damaging	Het
Nip7	T	C	8: 107,783,751 (GRCm39)	V28A	possibly damaging	Het
Odam	T	C	5: 88,040,287 (GRCm39)	F251S	possibly damaging	Het
Olfm5	T	A	7: 103,810,979 (GRCm39)	Q53L	probably null	Het
P2ry13	T	G	3: 59,117,545 (GRCm39)	M78L	probably benign	Het
Pacs1	T	C	19: 5,202,727 (GRCm39)	E385G	probably damaging	Het
Pip5k1b	C	T	19: 24,337,343 (GRCm39)	G315D	probably damaging	Het
Pla2g4a	C	A	1: 149,762,022 (GRCm39)	R145L	probably damaging	Het
Pramel26	A	G	4: 143,537,290 (GRCm39)	L347S	probably benign	Het
Rars1	T	C	11: 35,719,579 (GRCm39)	Q81R	probably benign	Het
Rassf7	A	G	7: 140,797,847 (GRCm39)	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,485,262 (GRCm39)	A94T	probably benign	Het
Rgs8	T	C	1: 153,566,668 (GRCm39)	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,616,043 (GRCm39)	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,331,004 (GRCm39)	V43A	probably benign	Het
Sesn2	T	C	4: 132,224,200 (GRCm39)	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,164,453 (GRCm39)	S15L	unknown	Het
Slc7a5	T	C	8: 122,633,879 (GRCm39)	Y156C	probably damaging	Het
Spata18	A	G	5: 73,826,008 (GRCm39)	H105R		Het
Specc1l	A	G	10: 75,081,636 (GRCm39)	D344G	probably damaging	Het
Syne1	A	G	10: 5,112,461 (GRCm39)	V415A	probably benign	Het
Thbs4	T	G	13: 92,912,070 (GRCm39)	D220A	probably benign	Het
Tmco5	T	C	2: 116,716,752 (GRCm39)	S152P	probably benign	Het
Tmem35b	A	T	4: 127,022,734 (GRCm39)	D125V	probably damaging	Het
Trim17	A	G	11: 58,857,634 (GRCm39)	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,195,481 (GRCm39)	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,655,906 (GRCm39)	Q705L		Het
Vmn2r93	A	G	17: 18,525,583 (GRCm39)	R414G	probably benign	Het
Xirp2	T	C	2: 67,339,193 (GRCm39)	L478P	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
R0278:Il7r	UTSW	15	9,516,423 (GRCm39)	missense	probably damaging	0.98
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
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'- TGCAGAGCAAGGATCAGGTT -3'
(R):5'- TGGGTTTCAGAGAAGAAGGACT -3'

Sequencing Primer
(F):5'- GCAAGGATCAGGTTTATCTGAGC -3'
(R):5'- GGACTTTAAAACGTGTAGTTATCAGC -3'

Posted On

2019-11-12