Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Il5ra'

192120

Institutional Source

Beutler Lab

Gene Symbol

Il5ra

Ensembl Gene

ENSMUSG00000005364

Gene Name

interleukin 5 receptor, alpha

Synonyms

CDw125, Il5r, IL-5 receptor alpha chain, CD125

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

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

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106687336-106725998 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 106715335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 166 (Y166*)

Ref Sequence

ENSEMBL: ENSMUSP00000144718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167925] [ENSMUST00000204659] [ENSMUST00000205004]

AlphaFold

P21183

Predicted Effect

probably null
Transcript: ENSMUST00000167925
AA Change: Y166*

SMART Domains

Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: Y166*

Domain	Start	End	E-Value	Type
FN3	27	159	6.27e0	SMART
FN3	236	312	1.28e1	SMART
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000204659
AA Change: Y166*

SMART Domains

Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: Y166*

Domain	Start	End	E-Value	Type
FN3	27	159	6.27e0	SMART
FN3	236	312	1.28e1	SMART
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205004

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies. Mice homozygous for one knock-out allele exhibit increased metastasis of injected B16F10 melanoma cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	A	5: 121,638,970 (GRCm39)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,408,553 (GRCm39)	N75I	probably benign	Het
Adgrg5	A	G	8: 95,664,373 (GRCm39)	M328V	probably damaging	Het
Adk	A	G	14: 21,431,668 (GRCm39)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,429,201 (GRCm39)	D917V	probably damaging	Het
Appl2	C	T	10: 83,457,446 (GRCm39)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,706,632 (GRCm39)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,287,391 (GRCm39)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,009,580 (GRCm39)	L261P	probably damaging	Het
Brca1	G	T	11: 101,415,281 (GRCm39)	T951K	probably damaging	Het
Ccdc73	A	T	2: 104,822,450 (GRCm39)	S800C	probably damaging	Het
Cdh15	C	G	8: 123,588,755 (GRCm39)	D276E	probably benign	Het
Cfap119	A	G	7: 127,186,745 (GRCm39)		probably null	Het
Cfap418	T	A	4: 10,874,644 (GRCm39)	D10E	probably damaging	Het
Cfh	T	C	1: 140,030,575 (GRCm39)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm39)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,728,410 (GRCm39)	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,883,728 (GRCm39)	Y155C	probably damaging	Het
Cltc	C	A	11: 86,591,886 (GRCm39)		probably null	Het
Ctsll3	T	A	13: 60,948,791 (GRCm39)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,267,321 (GRCm39)	M130V	probably benign	Het
Daglb	T	C	5: 143,480,361 (GRCm39)	M455T	probably benign	Het
Dbn1	A	G	13: 55,624,521 (GRCm39)	S343P	probably benign	Het
Dnah2	T	A	11: 69,405,517 (GRCm39)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,099,555 (GRCm39)	M1K	probably null	Het
Eif3m	T	C	2: 104,847,298 (GRCm39)	E12G	probably damaging	Het
Epha2	T	C	4: 141,033,828 (GRCm39)	V29A	possibly damaging	Het
Farp2	T	A	1: 93,488,047 (GRCm39)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,978,971 (GRCm39)	S161R	probably benign	Het
Fgd2	A	T	17: 29,587,219 (GRCm39)	D315V	possibly damaging	Het
Fhip2a	T	C	19: 57,367,603 (GRCm39)	W337R	probably damaging	Het
Fstl4	T	A	11: 53,056,705 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,685,311 (GRCm39)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,364,922 (GRCm39)	L115P	probably damaging	Het
Hk2	T	A	6: 82,721,932 (GRCm39)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,140,415 (GRCm39)	A302E	probably benign	Het
Htr7	T	C	19: 35,947,136 (GRCm39)	N293D	probably benign	Het
Ikbkb	T	A	8: 23,163,496 (GRCm39)	E271D	probably benign	Het
Il9r	T	A	11: 32,143,227 (GRCm39)	H244L	probably benign	Het
Itih4	T	C	14: 30,613,456 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Limk2	A	G	11: 3,303,275 (GRCm39)		probably null	Het
Med15	A	G	16: 17,540,644 (GRCm39)	F34S	probably damaging	Het
Mprip	C	T	11: 59,643,357 (GRCm39)	T505I	probably damaging	Het
Mtor	T	A	4: 148,623,364 (GRCm39)	N2071K	probably benign	Het
Muc16	A	G	9: 18,408,729 (GRCm39)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,166,908 (GRCm39)		probably null	Het
Myo7a	A	C	7: 97,741,703 (GRCm39)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,851,593 (GRCm39)	L81R	probably benign	Het
Ntn4	T	A	10: 93,569,464 (GRCm39)		probably null	Het
Or2y13	T	C	11: 49,415,162 (GRCm39)	V204A	probably benign	Het
Or4p19	T	C	2: 88,242,444 (GRCm39)	D186G	probably damaging	Het
Or51l4	A	T	7: 103,404,131 (GRCm39)	Y220*	probably null	Het
Otogl	T	G	10: 107,649,878 (GRCm39)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,887,003 (GRCm39)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,335,921 (GRCm39)	R238H	probably damaging	Het
Pex5l	T	A	3: 33,008,531 (GRCm39)	N151I	probably benign	Het
Plekha7	T	C	7: 115,727,920 (GRCm39)	N980S	probably damaging	Het
Reg4	C	T	3: 98,143,677 (GRCm39)	T157I	probably benign	Het
Rev3l	A	T	10: 39,700,612 (GRCm39)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,700,611 (GRCm39)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,342,340 (GRCm39)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,335,220 (GRCm39)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,147,315 (GRCm39)	L387F	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,667,641 (GRCm39)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,086,124 (GRCm39)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,162,024 (GRCm39)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,446,485 (GRCm39)	E312*	probably null	Het
Synpo	A	G	18: 60,736,459 (GRCm39)	F496L	probably benign	Het
Syt15	C	T	14: 33,944,858 (GRCm39)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,032,832 (GRCm39)	E246G	probably benign	Het
Trim44	T	C	2: 102,187,830 (GRCm39)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,272,885 (GRCm39)	K29*	probably null	Het
Vim	T	A	2: 13,584,921 (GRCm39)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm39)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,996,560 (GRCm39)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,466,991 (GRCm39)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,667 (GRCm39)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,879,357 (GRCm39)	E566*	probably null	Het

Other mutations in Il5ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Il5ra	APN	6	106,689,435 (GRCm39)	splice site	probably benign
IGL00726:Il5ra	APN	6	106,715,450 (GRCm39)	missense	probably damaging	1.00
IGL01095:Il5ra	APN	6	106,719,605 (GRCm39)	intron	probably benign
IGL01562:Il5ra	APN	6	106,708,865 (GRCm39)	missense	probably benign	0.00
IGL01569:Il5ra	APN	6	106,708,794 (GRCm39)	start codon destroyed	probably null
IGL02346:Il5ra	APN	6	106,719,619 (GRCm39)	missense	probably benign	0.02
IGL02573:Il5ra	APN	6	106,693,712 (GRCm39)	missense	possibly damaging	0.93
IGL02659:Il5ra	APN	6	106,719,644 (GRCm39)	missense	possibly damaging	0.49
R0037:Il5ra	UTSW	6	106,719,647 (GRCm39)	missense	probably damaging	1.00
R0037:Il5ra	UTSW	6	106,719,647 (GRCm39)	missense	probably damaging	1.00
R0294:Il5ra	UTSW	6	106,689,362 (GRCm39)	missense	probably benign	0.41
R0463:Il5ra	UTSW	6	106,708,851 (GRCm39)	missense	probably damaging	0.99
R0478:Il5ra	UTSW	6	106,715,423 (GRCm39)	missense	probably benign
R0597:Il5ra	UTSW	6	106,721,296 (GRCm39)	start codon destroyed	probably null	0.99
R1526:Il5ra	UTSW	6	106,712,781 (GRCm39)	missense	possibly damaging	0.49
R1888:Il5ra	UTSW	6	106,708,874 (GRCm39)	missense	probably damaging	1.00
R1888:Il5ra	UTSW	6	106,708,874 (GRCm39)	missense	probably damaging	1.00
R2176:Il5ra	UTSW	6	106,715,233 (GRCm39)	missense	probably benign
R2207:Il5ra	UTSW	6	106,689,402 (GRCm39)	nonsense	probably null
R2973:Il5ra	UTSW	6	106,718,196 (GRCm39)	missense	probably benign	0.08
R4546:Il5ra	UTSW	6	106,715,459 (GRCm39)	nonsense	probably null
R4842:Il5ra	UTSW	6	106,715,336 (GRCm39)	missense	probably damaging	1.00
R4851:Il5ra	UTSW	6	106,715,432 (GRCm39)	missense	probably benign	0.06
R4911:Il5ra	UTSW	6	106,692,629 (GRCm39)	missense	probably damaging	1.00
R4936:Il5ra	UTSW	6	106,715,123 (GRCm39)	missense	possibly damaging	0.90
R5297:Il5ra	UTSW	6	106,715,095 (GRCm39)	missense	probably benign	0.09
R6035:Il5ra	UTSW	6	106,718,226 (GRCm39)	missense	probably damaging	1.00
R6035:Il5ra	UTSW	6	106,718,226 (GRCm39)	missense	probably damaging	1.00
R8103:Il5ra	UTSW	6	106,692,611 (GRCm39)	missense	possibly damaging	0.87
R8338:Il5ra	UTSW	6	106,689,350 (GRCm39)	missense	probably benign	0.09
R8497:Il5ra	UTSW	6	106,715,066 (GRCm39)	missense	probably benign	0.01
R8936:Il5ra	UTSW	6	106,692,604 (GRCm39)	missense	possibly damaging	0.94
R9397:Il5ra	UTSW	6	106,721,258 (GRCm39)	missense	probably benign	0.10
R9576:Il5ra	UTSW	6	106,712,688 (GRCm39)	missense	probably damaging	1.00
R9583:Il5ra	UTSW	6	106,721,297 (GRCm39)	start codon destroyed	possibly damaging	0.84
R9583:Il5ra	UTSW	6	106,689,331 (GRCm39)	missense	unknown
Z1177:Il5ra	UTSW	6	106,718,095 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGCTGCTCAAACCCTTTGCTG -3'
(R):5'- CAAGAATGCTGAAGTTGCTGGACAC -3'

Sequencing Primer
(F):5'- AACCCTTTGCTGTTGATAAATGTCC -3'
(R):5'- GTTGCTGGACACATGACAC -3'

Posted On

2014-05-14