Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Il3ra'

534731

Institutional Source

Beutler Lab

Gene Symbol

Il3ra

Ensembl Gene

ENSMUSG00000068758

Gene Name

interleukin 3 receptor, alpha chain

Synonyms

CD123, SUT-1, IL-3 receptor alpha chain

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

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

Stock #

R6845 (G1)

Quality Score

123.008

Status

Not validated

Chromosome

Chromosomal Location

8114270-8123851 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to C at 14346517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090591] [ENSMUST00000223589] [ENSMUST00000224163] [ENSMUST00000224877] [ENSMUST00000225775]

AlphaFold

P26952

Predicted Effect

probably null
Transcript: ENSMUST00000090591

SMART Domains

Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:IL6Ra-bind	119	233	6.1e-33	PFAM
transmembrane domain	333	355	N/A	INTRINSIC
low complexity region	359	374	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223589

Predicted Effect

probably benign
Transcript: ENSMUST00000224163

Predicted Effect

probably null
Transcript: ENSMUST00000224877

Predicted Effect

probably null
Transcript: ENSMUST00000225775

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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 3 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 IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]
PHENOTYPE: A number of distantly related inbred mouse strains carrying an identical spontaneous deletion at the branch point in intron 7 exhibit a reduced capacity of bone marrow cells to form colonies in response to interleukin-3 in CFU-GM assays. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	Het

Other mutations in Il3ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02454:Il3ra	APN	14	14,351,113 (GRCm38)	missense	probably benign	0.36
IGL02547:Il3ra	APN	14	14,351,970 (GRCm38)	missense	probably benign	0.01
IGL02550:Il3ra	APN	14	14,348,055 (GRCm38)	missense	probably benign	0.03
IGL02632:Il3ra	APN	14	14,350,807 (GRCm38)	critical splice donor site	probably null
IGL02737:Il3ra	APN	14	14,350,760 (GRCm38)	missense	probably benign	0.02
R0165:Il3ra	UTSW	14	14,350,967 (GRCm38)	missense	probably benign	0.01
R0597:Il3ra	UTSW	14	14,351,166 (GRCm38)	critical splice donor site	probably null
R1109:Il3ra	UTSW	14	14,349,317 (GRCm38)	missense	probably damaging	1.00
R2211:Il3ra	UTSW	14	14,355,029 (GRCm38)	missense	probably benign	0.03
R2409:Il3ra	UTSW	14	14,349,377 (GRCm38)	splice site	probably null
R4258:Il3ra	UTSW	14	14,347,961 (GRCm38)	missense	probably damaging	1.00
R4896:Il3ra	UTSW	14	14,355,381 (GRCm38)	missense	probably benign	0.07
R4994:Il3ra	UTSW	14	14,351,080 (GRCm38)	missense	probably benign	0.19
R5004:Il3ra	UTSW	14	14,355,381 (GRCm38)	missense	probably benign	0.07
R5935:Il3ra	UTSW	14	14,350,799 (GRCm38)	missense	probably damaging	0.99
R6274:Il3ra	UTSW	14	14,350,180 (GRCm38)	missense	probably benign	0.19
R6350:Il3ra	UTSW	14	14,348,903 (GRCm38)	missense	probably benign	0.07
R6403:Il3ra	UTSW	14	14,347,137 (GRCm38)	missense	probably damaging	0.98
R7417:Il3ra	UTSW	14	14,349,345 (GRCm38)	missense	probably benign	0.08
R7432:Il3ra	UTSW	14	14,350,691 (GRCm38)	missense	possibly damaging	0.64
R7450:Il3ra	UTSW	14	14,351,090 (GRCm38)	missense	probably benign	0.25
R7917:Il3ra	UTSW	14	14,350,773 (GRCm38)	missense	possibly damaging	0.66
R8048:Il3ra	UTSW	14	14,348,903 (GRCm38)	missense	probably benign	0.07
Z1088:Il3ra	UTSW	14	14,351,129 (GRCm38)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACTATCTCAGGAAGTTGCTCAATC -3'
(R):5'- CCGCGAGTAAACAGTGTGAG -3'

Sequencing Primer
(F):5'- AAGTTGCTCAATCTCGGGAC -3'
(R):5'- ACCACGAGTTAGTTTCTGAGGCAG -3'

Posted On

2018-09-12