Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Il3ra'

321917

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

041071-MU

Accession Numbers

Essential gene?

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

Stock #

R4258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8114270-8123851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14347961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 36 (N36Y)

Ref Sequence

ENSEMBL: ENSMUSP00000153664 (fasta)

Gene Model

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

AlphaFold

P26952

Predicted Effect

probably damaging
Transcript: ENSMUST00000090591
AA Change: N36Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758
AA Change: N36Y

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 damaging
Transcript: ENSMUST00000223589
AA Change: N36Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224163
AA Change: N36Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224415

Predicted Effect

probably benign
Transcript: ENSMUST00000224877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225560

Predicted Effect

probably damaging
Transcript: ENSMUST00000225775
AA Change: N36Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	T	A	17: 54,031,441 (GRCm39)		noncoding transcript	Het
Ank3	T	C	10: 69,840,592 (GRCm39)	I984T	probably benign	Het
Arnt2	T	C	7: 83,960,163 (GRCm39)	T204A	probably damaging	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Aspg	A	T	12: 112,087,687 (GRCm39)	N346I	probably benign	Het
Brdt	A	G	5: 107,507,775 (GRCm39)	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,150,392 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,937,923 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,363,474 (GRCm39)	H319Q	unknown	Het
Colec12	T	C	18: 9,720,950 (GRCm39)	S13P	probably damaging	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp2c65	A	C	19: 39,081,872 (GRCm39)	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,928,248 (GRCm39)	K266E	probably damaging	Het
Dennd1b	G	T	1: 138,990,678 (GRCm39)	R214L	probably damaging	Het
Dock9	T	C	14: 121,818,854 (GRCm39)	I1533V	probably benign	Het
Dynlt1a	C	T	17: 6,361,184 (GRCm39)	M102I	probably benign	Het
Edil3	G	T	13: 89,325,272 (GRCm39)	L220F	probably damaging	Het
Eml5	A	G	12: 98,831,693 (GRCm39)	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130 (GRCm39)	T393S	probably benign	Het
Fbxo8	A	T	8: 57,041,076 (GRCm39)	D164V	probably benign	Het
Gbp4	T	A	5: 105,284,841 (GRCm39)	N16I	probably damaging	Het
Gdf6	G	A	4: 9,844,877 (GRCm39)	V134I	probably damaging	Het
Gm5475	A	G	15: 100,322,117 (GRCm39)		probably benign	Het
Gm6430	T	G	1: 96,952,561 (GRCm39)		noncoding transcript	Het
Ighv9-4	A	T	12: 114,263,765 (GRCm39)	V56E	probably damaging	Het
Kif7	G	T	7: 79,360,261 (GRCm39)	C325*	probably null	Het
Lipo2	A	T	19: 33,708,328 (GRCm39)	F229I	possibly damaging	Het
Lrba	A	G	3: 86,352,656 (GRCm39)	K1935E	probably damaging	Het
Mki67	A	T	7: 135,297,017 (GRCm39)	D2672E	possibly damaging	Het
Mtf1	A	G	4: 124,732,576 (GRCm39)	T545A	probably benign	Het
Mup6	A	T	4: 60,004,812 (GRCm39)		probably null	Het
Myo9b	T	C	8: 71,808,409 (GRCm39)	V1672A	probably damaging	Het
Nudt16l2	T	C	9: 105,020,767 (GRCm39)	I165V	probably damaging	Het
Or10al6	C	A	17: 38,082,949 (GRCm39)	P135Q	probably damaging	Het
Or10j5	C	T	1: 172,785,205 (GRCm39)	T281I	possibly damaging	Het
Or4k36	A	T	2: 111,145,983 (GRCm39)	H53L	probably benign	Het
Or5d37	T	A	2: 87,923,362 (GRCm39)	N306I	probably damaging	Het
Pcdhgb2	A	T	18: 37,825,102 (GRCm39)	I698F	probably damaging	Het
Pkn3	C	T	2: 29,978,572 (GRCm39)	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,383,531 (GRCm39)	L99*	probably null	Het
Psg22	T	A	7: 18,458,554 (GRCm39)	V376E	probably damaging	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rasa2	A	T	9: 96,439,433 (GRCm39)		probably benign	Het
Schip1	T	A	3: 68,525,963 (GRCm39)	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,395,398 (GRCm39)		probably benign	Het
Sh3tc1	C	T	5: 35,864,322 (GRCm39)	A622T	probably benign	Het
Smarcd2	A	T	11: 106,156,076 (GRCm39)	I292N	probably damaging	Het
Ssxb17	C	T	X: 21,041,167 (GRCm39)	S45N	probably damaging	Het
Stab1	G	A	14: 30,876,629 (GRCm39)	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,087,312 (GRCm39)	H870L	probably benign	Het
Tnfaip8	A	G	18: 50,223,443 (GRCm39)	R60G	possibly damaging	Het
Traf3ip3	C	T	1: 192,880,254 (GRCm39)	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,601,150 (GRCm39)	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,042,118 (GRCm39)	D199A	probably damaging	Het
Washc2	C	A	6: 116,185,202 (GRCm39)	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,671,896 (GRCm39)	I121V	probably benign	Het
Zfp606	T	A	7: 12,228,267 (GRCm39)		probably null	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
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'- TGTCAATCAAAGCCTAAGTCCC -3'
(R):5'- TGACGGACAGTGTGGAGATC -3'

Sequencing Primer
(F):5'- GCCTAAGTCCCGCCCACTTC -3'
(R):5'- ACAGTGTGGAGATCCCTACC -3'

Posted On

2015-06-20