Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Il5ra'

479142

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

044207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106687336-106725998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106718226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 76 (T76I)

Ref Sequence

ENSEMBL: ENSMUSP00000144718 (fasta)

Gene Model

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

AlphaFold

P21183

Predicted Effect

probably damaging
Transcript: ENSMUST00000167925
AA Change: T76I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: T76I

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 damaging
Transcript: ENSMUST00000204659
AA Change: T76I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: T76I

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

Meta Mutation Damage Score

0.1330

Coding Region Coverage

1x: 99.8%
3x: 98.9%
10x: 91.8%
20x: 70.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,621,424 (GRCm39)	Y392*	probably null	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Cdh13	A	G	8: 119,232,437 (GRCm39)	D47G	probably benign	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,791,605 (GRCm39)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,741,746 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Mroh2a	G	A	1: 88,158,390 (GRCm39)	V146M	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1e1	T	C	11: 73,244,582 (GRCm39)	M1T	probably null	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Selp	T	A	1: 163,969,079 (GRCm39)	W560R	probably benign	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	probably benign	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
R1695:Il5ra	UTSW	6	106,715,335 (GRCm39)	nonsense	probably null
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
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

Posted On

2017-06-26