Mutagenetix > Incidental Mutation

Incidental Mutation 'R4936:Il5ra'

380373

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

042536-MU

Accession Numbers

Essential gene?

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

Stock #

R4936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106687336-106725998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106715123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 212 (I212F)

Ref Sequence

ENSEMBL: ENSMUSP00000144718 (fasta)

Gene Model

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

AlphaFold

P21183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167925
AA Change: I212F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: I212F

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

possibly damaging
Transcript: ENSMUST00000204659
AA Change: I212F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: I212F

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: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,212 (GRCm39)	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,921,245 (GRCm39)	M775K	probably damaging	Het
Actn1	T	G	12: 80,219,772 (GRCm39)	I700L	probably benign	Het
Adam5	T	C	8: 25,276,287 (GRCm39)	Y460C	probably damaging	Het
Akna	C	T	4: 63,313,502 (GRCm39)	G207E	probably damaging	Het
Ank2	T	A	3: 126,748,688 (GRCm39)	H527L	possibly damaging	Het
Anks1	C	A	17: 28,207,779 (GRCm39)	N383K	probably damaging	Het
Apba3	C	T	10: 81,105,204 (GRCm39)		probably null	Het
Atp9b	C	A	18: 80,779,308 (GRCm39)	V1121F	possibly damaging	Het
Bsn	T	C	9: 107,988,960 (GRCm39)	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,997,799 (GRCm39)	D266G	probably damaging	Het
Cep55	A	G	19: 38,060,202 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckb	T	C	12: 111,637,664 (GRCm39)	K156E	probably benign	Het
Cln3	T	A	7: 126,174,393 (GRCm39)	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,227,796 (GRCm39)	F479S	probably damaging	Het
Col1a1	A	G	11: 94,837,958 (GRCm39)	D826G	unknown	Het
Cyp27a1	T	C	1: 74,774,564 (GRCm39)	V194A	probably benign	Het
Dis3l2	C	T	1: 86,971,890 (GRCm39)	P643S	probably benign	Het
Dpf3	T	C	12: 83,378,740 (GRCm39)	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,350,241 (GRCm39)	G27D	probably benign	Het
Eif4a1	T	G	11: 69,563,251 (GRCm39)		probably benign	Het
Espl1	A	T	15: 102,213,372 (GRCm39)	D566V	probably damaging	Het
Ext2	T	A	2: 93,644,024 (GRCm39)	R86*	probably null	Het
Fasn	A	T	11: 120,706,911 (GRCm39)	F914I	probably damaging	Het
Fbf1	A	G	11: 116,043,378 (GRCm39)	L477P	probably benign	Het
Fsd1	A	T	17: 56,303,452 (GRCm39)	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,815,384 (GRCm39)	S3706T	probably benign	Het
Gabra5	A	T	7: 57,058,547 (GRCm39)	N400K	probably benign	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gli2	A	G	1: 118,763,870 (GRCm39)	V1427A	probably benign	Het
Gm7334	A	T	17: 51,005,855 (GRCm39)	Y47F	probably damaging	Het
Gm8674	T	G	13: 50,054,791 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,896,039 (GRCm39)	T377K	probably benign	Het
Gp9	T	A	6: 87,756,229 (GRCm39)	D81E	probably benign	Het
Klhl18	G	T	9: 110,258,029 (GRCm39)	N470K	possibly damaging	Het
Lfng	G	T	5: 140,598,150 (GRCm39)		probably null	Het
Lpo	A	G	11: 87,701,166 (GRCm39)	I430T	probably benign	Het
Lrrc31	C	T	3: 30,743,417 (GRCm39)	D183N	probably damaging	Het
Meis2	T	C	2: 115,694,893 (GRCm39)	T410A	probably benign	Het
Myo6	A	G	9: 80,214,963 (GRCm39)	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,146,803 (GRCm39)	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,319,743 (GRCm39)	V251M	probably damaging	Het
Nmbr	C	A	10: 14,642,730 (GRCm39)	H96Q	probably damaging	Het
Nop14	C	T	5: 34,809,737 (GRCm39)	R256H	probably damaging	Het
Nqo2	T	A	13: 34,165,501 (GRCm39)	Y133N	probably damaging	Het
Or1f12	T	C	13: 21,721,357 (GRCm39)	I273V	probably benign	Het
Or5w20	A	G	2: 87,727,157 (GRCm39)	I213V	probably benign	Het
Pbld2	C	A	10: 62,888,017 (GRCm39)	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,475,202 (GRCm39)	G113*	probably null	Het
Pcdhb7	G	T	18: 37,475,203 (GRCm39)	G113V	probably damaging	Het
Pdgfra	A	T	5: 75,355,687 (GRCm39)	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,332,881 (GRCm39)		probably null	Het
Prdm8	G	T	5: 98,332,882 (GRCm39)		probably null	Het
Prkg1	T	C	19: 30,563,775 (GRCm39)	Y479C	probably benign	Het
Pudp	T	C	18: 50,701,539 (GRCm39)	T65A	probably benign	Het
Rbbp6	C	T	7: 122,598,926 (GRCm39)		probably benign	Het
Rcc1	C	G	4: 132,063,046 (GRCm39)	V187L	probably damaging	Het
Rims2	T	A	15: 39,301,124 (GRCm39)	M285K	probably damaging	Het
Rtkn2	T	C	10: 67,877,745 (GRCm39)	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,866 (GRCm39)	S169R	probably damaging	Het
Sardh	T	C	2: 27,118,253 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,584 (GRCm39)	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,559,191 (GRCm39)	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,070,864 (GRCm39)	R408G	probably damaging	Het
Slc44a5	T	G	3: 153,959,353 (GRCm39)	I348S	probably damaging	Het
Slc8a2	A	T	7: 15,868,100 (GRCm39)	K111*	probably null	Het
Smc5	A	G	19: 23,211,367 (GRCm39)	V589A	probably damaging	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,605,882 (GRCm39)	M541T	probably benign	Het
Tie1	T	A	4: 118,341,968 (GRCm39)		silent	Het
Tln1	A	G	4: 43,547,522 (GRCm39)	F813S	possibly damaging	Het
Tnrc18	A	T	5: 142,751,732 (GRCm39)	L1191*	probably null	Het
Tubb2a	A	C	13: 34,259,240 (GRCm39)	Y183*	probably null	Het
Ubr4	T	A	4: 139,123,877 (GRCm39)	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,524,327 (GRCm39)	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,647,494 (GRCm39)	S624R	probably benign	Het
Wwox	G	A	8: 115,433,098 (GRCm39)	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804 (GRCm39)	K546E	probably damaging	Het
Xirp2	T	A	2: 67,340,163 (GRCm39)	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,577,589 (GRCm39)	I1175V	probably benign	Het
Zfp646	T	A	7: 127,480,933 (GRCm39)	C1037S	possibly damaging	Het
Zfp786	A	T	6: 47,798,202 (GRCm39)	C245*	probably null	Het
Zfp827	T	C	8: 79,787,812 (GRCm39)	V326A	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
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'- GGAACTCTGCCTCAGTAGTTTTC -3'
(R):5'- CCCCTGAGGACACACAGTATTTC -3'

Sequencing Primer
(F):5'- GCCTCAGTAGTTTTCCTATGTTAGC -3'
(R):5'- CTGAGGACACACAGTATTTCCTATAC -3'

Posted On

2016-04-15