Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Il3ra'

55144

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

038786-MU

Accession Numbers

Essential gene?

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

Stock #

R0597 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

8114270-8123851 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 14351166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153086 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000224163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224415

Predicted Effect

probably null
Transcript: ENSMUST00000224877

Predicted Effect

probably null
Transcript: ENSMUST00000224877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225560

Predicted Effect

probably benign
Transcript: ENSMUST00000225775

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,352,631 (GRCm39)		probably null	Het
Anxa11	T	C	14: 25,874,652 (GRCm39)	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,225,871 (GRCm39)	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,880,584 (GRCm39)		probably benign	Het
Btn2a2	T	A	13: 23,670,580 (GRCm39)	H51L	probably benign	Het
Casz1	T	C	4: 149,028,851 (GRCm39)	S1099P	probably benign	Het
Cnot4	A	G	6: 35,028,438 (GRCm39)	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,112,191 (GRCm39)		probably benign	Het
Cobl	T	C	11: 12,204,699 (GRCm39)	T586A	probably benign	Het
Crocc	T	C	4: 140,747,224 (GRCm39)	K1528R	probably benign	Het
Crocc	A	G	4: 140,744,382 (GRCm39)	L1838P	probably benign	Het
Dact2	A	G	17: 14,417,303 (GRCm39)	V299A	probably benign	Het
Dapk1	C	A	13: 60,909,198 (GRCm39)	N1270K	probably benign	Het
Ddx41	T	C	13: 55,680,819 (GRCm39)	Y375C	probably damaging	Het
Dock5	T	A	14: 68,022,383 (GRCm39)		probably null	Het
Dyrk4	T	G	6: 126,863,612 (GRCm39)		probably null	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam210b	A	G	2: 172,187,773 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,819,712 (GRCm39)	I229T	probably benign	Het
Fbxo39	A	G	11: 72,207,747 (GRCm39)	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,670,496 (GRCm39)	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,701,032 (GRCm39)	L261Q	probably damaging	Het
Gm5800	A	C	14: 51,953,461 (GRCm39)	N51K	probably benign	Het
Gm6899	A	G	11: 26,543,768 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,035 (GRCm39)	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351 (GRCm39)	V1095M	probably damaging	Het
Grip2	T	C	6: 91,773,178 (GRCm39)		probably benign	Het
Hacd4	A	G	4: 88,355,757 (GRCm39)	F43L	probably damaging	Het
Hif1a	T	G	12: 73,989,049 (GRCm39)	S645R	probably benign	Het
Hipk3	A	G	2: 104,263,982 (GRCm39)	S839P	possibly damaging	Het
Idi2l	C	A	13: 8,990,802 (GRCm39)		probably benign	Het
Il16	A	T	7: 83,327,183 (GRCm39)		probably benign	Het
Il5ra	A	G	6: 106,721,296 (GRCm39)	M1T	probably null	Het
Klra2	G	A	6: 131,197,148 (GRCm39)	R251C	probably benign	Het
Lamc2	C	T	1: 153,009,367 (GRCm39)	V813M	probably benign	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Map3k6	C	T	4: 132,972,863 (GRCm39)	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,529,609 (GRCm39)	E140G	probably benign	Het
Med1	T	C	11: 98,060,264 (GRCm39)	M222V	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Muc19	A	T	15: 91,784,696 (GRCm39)		noncoding transcript	Het
Nr1h2	A	G	7: 44,201,684 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,706,592 (GRCm39)		probably null	Het
Or2w6	C	A	13: 21,843,316 (GRCm39)	R59L	probably damaging	Het
Or56a42-ps1	A	G	7: 104,777,425 (GRCm39)	V73A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,123 (GRCm39)	F250I	probably damaging	Het
P4hb	G	A	11: 120,459,070 (GRCm39)	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,534,202 (GRCm39)	V101A	probably benign	Het
Pou4f2	A	G	8: 79,161,869 (GRCm39)	S245P	probably benign	Het
Pramel26	G	T	4: 143,539,222 (GRCm39)	N90K	probably damaging	Het
Rnpep	A	G	1: 135,200,157 (GRCm39)	V266A	probably damaging	Het
Scly	G	A	1: 91,237,555 (GRCm39)	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,024,814 (GRCm39)	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,781,874 (GRCm39)	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,001,190 (GRCm39)	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,843,249 (GRCm39)	F377L	probably benign	Het
Slc44a3	T	C	3: 121,253,719 (GRCm39)	I625V	probably benign	Het
Slc47a2	A	T	11: 61,200,802 (GRCm39)	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 82,926,479 (GRCm39)		noncoding transcript	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Sort1	A	G	3: 108,246,226 (GRCm39)	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,195,897 (GRCm39)	M1I	probably null	Het
Sycp2	A	C	2: 177,998,373 (GRCm39)	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,502,775 (GRCm39)	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,564 (GRCm39)	C303*	probably null	Het
Vmn2r23	A	G	6: 123,706,680 (GRCm39)	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,240,670 (GRCm39)	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399 (GRCm39)	N1882D	probably benign	Het
Zfp91	T	C	19: 12,747,459 (GRCm39)	I555V	possibly damaging	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
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
R6845:Il3ra	UTSW	14	14,346,517 (GRCm38)	splice site	probably null
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'- TGGCAGTGGCAATGACATCACAG -3'
(R):5'- TCAATGCTGGACATGGCGTAGG -3'

Sequencing Primer
(F):5'- TGACATCACAGAGGCCCTG -3'
(R):5'- TGGCGTAGGGAAATTGGGC -3'

Posted On

2013-07-11