Mutagenetix > Incidental Mutation

Incidental Mutation 'R8936:Il5ra'

680638

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

068779-MU

Accession Numbers

Essential gene?

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

Stock #

R8936 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106687336-106725998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106692604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 380 (D380E)

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: D380E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: D380E

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: D380E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: D380E

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

unknown
Transcript: ENSMUST00000205004
AA Change: I35N

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,797,101 (GRCm39)	K491E	probably benign	Het
Abcd3	T	C	3: 121,569,117 (GRCm39)	I374V	probably benign	Het
Adam34	G	A	8: 44,104,439 (GRCm39)	T402I	probably benign	Het
Angptl7	G	T	4: 148,581,790 (GRCm39)	H199N	probably benign	Het
Ankrd11	A	G	8: 123,621,840 (GRCm39)	C671R	possibly damaging	Het
Anxa7	G	A	14: 20,521,495 (GRCm39)	P67L	unknown	Het
Ap3d1	T	A	10: 80,547,952 (GRCm39)	Q913H	probably benign	Het
Arhgef37	A	G	18: 61,656,948 (GRCm39)	I39T	probably damaging	Het
Armh4	G	A	14: 50,008,024 (GRCm39)	T483I	probably damaging	Het
C3ar1	T	A	6: 122,828,044 (GRCm39)	T58S	probably damaging	Het
Caap1	A	T	4: 94,389,332 (GRCm39)	L334Q	probably damaging	Het
Ccr1	A	T	9: 123,763,882 (GRCm39)	I216K	probably damaging	Het
Cdh9	T	A	15: 16,831,162 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,921 (GRCm39)	F351S	possibly damaging	Het
Cfap61	A	G	2: 145,791,879 (GRCm39)	D112G	possibly damaging	Het
Cul9	T	A	17: 46,839,528 (GRCm39)	S817C	possibly damaging	Het
Dido1	A	G	2: 180,303,195 (GRCm39)	S1570P	probably benign	Het
Disc1	A	G	8: 125,814,754 (GRCm39)	D206G	probably damaging	Het
Dock5	T	A	14: 68,083,439 (GRCm39)	R157*	probably null	Het
Dpp6	A	G	5: 27,926,140 (GRCm39)	D738G	probably damaging	Het
Enpep	A	G	3: 129,125,884 (GRCm39)	F83L	possibly damaging	Het
F10	G	T	8: 13,095,086 (GRCm39)	W81L	probably damaging	Het
Fam217a	T	C	13: 35,095,147 (GRCm39)	D356G	probably damaging	Het
Fes	T	C	7: 80,031,473 (GRCm39)	E467G	probably damaging	Het
Fignl2	A	T	15: 100,951,339 (GRCm39)	D314E	unknown	Het
Foxh1	T	C	15: 76,552,719 (GRCm39)		probably benign	Het
Gdpd5	T	C	7: 99,109,199 (GRCm39)	L573P	probably benign	Het
Gigyf1	T	A	5: 137,523,469 (GRCm39)	S934T	probably damaging	Het
Gm7356	C	T	17: 14,221,937 (GRCm39)	V31I	probably benign	Het
Hoatz	A	G	9: 51,011,298 (GRCm39)		probably null	Het
Hoxa2	C	A	6: 52,140,517 (GRCm39)	K156N	probably damaging	Het
Ifi203	G	A	1: 173,756,857 (GRCm39)		probably benign	Het
Ino80c	C	A	18: 24,254,865 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,163,966 (GRCm39)	W772R	probably benign	Het
Lipo3	G	T	19: 33,557,880 (GRCm39)	Q171K	probably damaging	Het
Mga	A	T	2: 119,794,709 (GRCm39)	T2798S	probably damaging	Het
Msantd5l	A	G	11: 51,145,249 (GRCm39)	S113P	probably damaging	Het
Mybpc1	T	A	10: 88,394,437 (GRCm39)	T297S	probably benign	Het
Myh7	T	G	14: 55,228,440 (GRCm39)	Q222P	probably benign	Het
N4bp2l2	T	C	5: 150,585,362 (GRCm39)	D206G	probably benign	Het
Nacc2	G	C	2: 25,952,216 (GRCm39)	T380S	probably benign	Het
Niban3	T	A	8: 72,060,307 (GRCm39)		probably benign	Het
Nkpd1	T	A	7: 19,255,875 (GRCm39)	D186E	probably damaging	Het
Nol10	A	T	12: 17,466,863 (GRCm39)	E581V	probably benign	Het
Ntrk1	A	T	3: 87,693,366 (GRCm39)	N255K	possibly damaging	Het
Nudt5	T	G	2: 5,869,228 (GRCm39)	D151E	probably benign	Het
Obscn	A	T	11: 58,892,858 (GRCm39)	L6796Q	probably benign	Het
Or10p21	C	T	10: 128,847,802 (GRCm39)	A216V	probably benign	Het
Or4k2	A	G	14: 50,423,999 (GRCm39)	I225T	possibly damaging	Het
Oxct2b	A	G	4: 123,010,838 (GRCm39)	T253A	probably benign	Het
Patl1	G	A	19: 11,891,725 (GRCm39)	C10Y	probably damaging	Het
Pikfyve	A	G	1: 65,310,427 (GRCm39)	R1905G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,402,312 (GRCm39)	E2228G	possibly damaging	Het
Plcg1	A	G	2: 160,589,986 (GRCm39)	K135E	probably benign	Het
Proz	A	G	8: 13,115,319 (GRCm39)	T112A	probably benign	Het
Prune2	A	G	19: 17,099,199 (GRCm39)	N1568D	probably benign	Het
Rbm4	A	G	19: 4,837,539 (GRCm39)	V431A	probably benign	Het
Rgs19	G	T	2: 181,333,058 (GRCm39)	C40*	probably null	Het
Rimbp3	T	A	16: 17,030,884 (GRCm39)	I1436K	probably benign	Het
Rnps1	T	A	17: 24,641,176 (GRCm39)	M192K	probably damaging	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Slc17a9	G	A	2: 180,380,210 (GRCm39)	V318I	probably benign	Het
Slc5a12	A	G	2: 110,467,455 (GRCm39)	I412V	probably damaging	Het
Smc4	T	A	3: 68,925,491 (GRCm39)	N329K	probably benign	Het
St3gal4	G	A	9: 34,964,723 (GRCm39)	R165W	probably damaging	Het
Strbp	G	A	2: 37,493,949 (GRCm39)	R375*	probably null	Het
Tacc2	A	G	7: 130,228,367 (GRCm39)	N1684S	possibly damaging	Het
Tet1	A	T	10: 62,676,063 (GRCm39)	L671*	probably null	Het
Tex2	C	A	11: 106,458,144 (GRCm39)	E429*	probably null	Het
Tgm4	T	C	9: 122,869,541 (GRCm39)	I40T	possibly damaging	Het
Tmem132d	C	T	5: 127,869,676 (GRCm39)	D553N	probably damaging	Het
Tnks	A	T	8: 35,320,501 (GRCm39)	Y723*	probably null	Het
Tnks1bp1	A	T	2: 84,894,320 (GRCm39)	T1416S	probably benign	Het
Tnxb	T	A	17: 34,904,646 (GRCm39)	L1137Q	probably damaging	Het
Tor4a	A	C	2: 25,085,202 (GRCm39)	C68G	probably damaging	Het
Tubb2b	A	C	13: 34,312,445 (GRCm39)	V116G	probably damaging	Het
Upb1	T	A	10: 75,250,827 (GRCm39)	S99T	probably benign	Het
Vmn1r31	T	A	6: 58,449,083 (GRCm39)	I261F	unknown	Het
Vmn1r53	T	C	6: 90,200,571 (GRCm39)	Y251C	probably benign	Het
Vmn2r58	T	C	7: 41,513,981 (GRCm39)	R221G		Het
Vmn2r88	A	T	14: 51,655,983 (GRCm39)	I740F	possibly damaging	Het
Zfp644	C	T	5: 106,783,503 (GRCm39)	G1015R	probably damaging	Het
Zfy1	T	C	Y: 738,726 (GRCm39)	D160G	unknown	Het
Zscan25	T	A	5: 145,223,200 (GRCm39)	V156E	probably damaging	Het
Zyg11b	A	T	4: 108,109,356 (GRCm39)	F443I		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
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
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'- TTCAGGTTTAAATGGCAAGAGC -3'
(R):5'- CTTGGAGATCTCAGAAGCCAC -3'

Sequencing Primer
(F):5'- TGCATGTGAAACAGAGACATACATAC -3'
(R):5'- ACCCAAGGTCTTCAATGGTG -3'

Posted On

2021-08-31