Mutagenetix > Incidental Mutation

Incidental Mutation 'R1109:Il3ra'

98683

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

039182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1109 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

8114270-8123851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14349317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 138 (R138W)

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: R138W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758
AA Change: R138W

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: R138W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224163
AA Change: R138W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224415

Predicted Effect

probably damaging
Transcript: ENSMUST00000224877
AA Change: R45W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225560

Predicted Effect

probably damaging
Transcript: ENSMUST00000225775
AA Change: R138W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.9%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	T	G	3: 121,573,245 (GRCm39)	E262D	probably damaging	Het
Abcg1	G	A	17: 31,330,210 (GRCm39)	A504T	probably benign	Het
Acot11	T	C	4: 106,606,545 (GRCm39)	T515A	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Arhgap44	T	A	11: 64,917,642 (GRCm39)	H375L	probably benign	Het
Aspm	A	T	1: 139,384,496 (GRCm39)	I98F	probably damaging	Het
Atp8b5	T	C	4: 43,305,719 (GRCm39)		probably benign	Het
Coa3	T	C	11: 101,169,611 (GRCm39)	K48R	probably damaging	Het
Col12a1	A	G	9: 79,607,005 (GRCm39)	S473P	probably damaging	Het
Dnmt1	A	T	9: 20,833,684 (GRCm39)	Y451N	probably damaging	Het
Dock5	A	G	14: 68,043,927 (GRCm39)	Y819H	possibly damaging	Het
Dtx1	G	A	5: 120,848,484 (GRCm39)		probably benign	Het
Dus2	T	A	8: 106,780,114 (GRCm39)	F479I	probably benign	Het
Elp1	T	C	4: 56,786,723 (GRCm39)	T407A	probably benign	Het
Esrp1	T	C	4: 11,365,205 (GRCm39)	E262G	probably damaging	Het
Exoc4	A	G	6: 33,418,951 (GRCm39)	Y466C	probably damaging	Het
Fasn	A	G	11: 120,703,150 (GRCm39)	F1625S	possibly damaging	Het
Fbxw25	A	T	9: 109,479,128 (GRCm39)	H374Q	probably benign	Het
Focad	T	C	4: 88,114,984 (GRCm39)		probably benign	Het
Gad2	G	T	2: 22,571,406 (GRCm39)	R448L	probably damaging	Het
Gad2	G	A	2: 22,580,171 (GRCm39)		probably benign	Het
Galnt16	G	T	12: 80,637,405 (GRCm39)	E377D	probably benign	Het
Gcc1	A	C	6: 28,419,166 (GRCm39)	L389R	probably damaging	Het
Ggct	A	T	6: 54,966,554 (GRCm39)		probably benign	Het
Gm7052	G	A	17: 22,259,133 (GRCm39)		probably benign	Het
Gps2	T	A	11: 69,806,507 (GRCm39)	H177Q	possibly damaging	Het
Heg1	T	A	16: 33,583,961 (GRCm39)	L1256Q	probably damaging	Het
Il36a	G	A	2: 24,106,602 (GRCm39)	G62E	probably damaging	Het
Itprid1	G	T	6: 55,945,245 (GRCm39)	K655N	probably damaging	Het
Kdm4b	T	A	17: 56,706,430 (GRCm39)	I848N	probably damaging	Het
L3hypdh	A	G	12: 72,120,770 (GRCm39)	V327A	possibly damaging	Het
Lepr	G	T	4: 101,628,552 (GRCm39)	L552F	probably damaging	Het
Lpin3	T	C	2: 160,740,941 (GRCm39)	I449T	probably damaging	Het
Lrrn1	A	G	6: 107,544,225 (GRCm39)	K8E	probably benign	Het
Mex3a	G	T	3: 88,443,967 (GRCm39)	D348Y	possibly damaging	Het
Mindy2	G	A	9: 70,538,361 (GRCm39)	R325*	probably null	Het
Mkrn1	A	T	6: 39,376,268 (GRCm39)	M382K	probably damaging	Het
Mroh1	G	T	15: 76,330,709 (GRCm39)		probably benign	Het
Myo15a	T	A	11: 60,383,892 (GRCm39)	D1646E	probably damaging	Het
Neu2	A	G	1: 87,524,450 (GRCm39)	D145G	probably damaging	Het
Obi1	A	T	14: 104,717,200 (GRCm39)	L391*	probably null	Het
Or10ah1-ps1	A	T	5: 143,123,374 (GRCm39)	N216K	probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2w3b	T	C	11: 58,623,742 (GRCm39)	Y83C	probably benign	Het
Plekhm2	T	A	4: 141,355,295 (GRCm39)	I938F	probably benign	Het
Pnma8a	A	T	7: 16,695,392 (GRCm39)	K416*	probably null	Het
Ppid	T	C	3: 79,506,168 (GRCm39)	S198P	probably benign	Het
Rabl6	G	T	2: 25,477,538 (GRCm39)	P304Q	probably damaging	Het
Rasal2	A	T	1: 157,005,208 (GRCm39)		probably benign	Het
Ripor1	G	T	8: 106,345,560 (GRCm39)		probably benign	Het
Rnf216	A	T	5: 143,054,124 (GRCm39)	L658Q	probably damaging	Het
Safb	T	A	17: 56,908,228 (GRCm39)		probably benign	Het
Sf3b5	T	C	10: 12,884,497 (GRCm39)	M44T	probably benign	Het
Slc26a9	A	T	1: 131,686,536 (GRCm39)	M419L	probably benign	Het
Slc38a8	T	C	8: 120,209,394 (GRCm39)	D393G	probably benign	Het
Slc6a3	A	G	13: 73,705,199 (GRCm39)	D230G	probably benign	Het
Smc1b	T	C	15: 84,997,016 (GRCm39)	T535A	probably damaging	Het
Smg7	G	C	1: 152,721,334 (GRCm39)	P626R	probably damaging	Het
Smu1	C	T	4: 40,755,722 (GRCm39)	V48M	probably benign	Het
Spag17	T	C	3: 99,934,667 (GRCm39)	Y650H	possibly damaging	Het
Spata1	C	T	3: 146,181,053 (GRCm39)	V302I	possibly damaging	Het
Sptb	G	A	12: 76,650,377 (GRCm39)	A1780V	probably damaging	Het
Srrm2	G	A	17: 24,038,591 (GRCm39)		probably benign	Het
Sspo	A	C	6: 48,474,377 (GRCm39)	N4933H	probably damaging	Het
Sult2a2	T	C	7: 13,468,798 (GRCm39)	I88T	probably benign	Het
Tgfa	G	T	6: 86,247,072 (GRCm39)		probably benign	Het
Thsd1	T	A	8: 22,733,708 (GRCm39)	C252S	possibly damaging	Het
Tmem102	T	A	11: 69,695,630 (GRCm39)	H114L	probably damaging	Het
Tnni3k	T	A	3: 154,498,414 (GRCm39)	K808N	possibly damaging	Het
Trpm7	G	T	2: 126,639,713 (GRCm39)	L1628M	probably benign	Het
Ttn	A	G	2: 76,561,081 (GRCm39)	Y29107H	probably damaging	Het
Upb1	T	C	10: 75,273,999 (GRCm39)	L342P	probably damaging	Het
Vmn2r120	T	C	17: 57,832,829 (GRCm39)	T117A	probably benign	Het
Vmn2r16	A	G	5: 109,487,652 (GRCm39)	D175G	probably damaging	Het
Vps35l	A	T	7: 118,374,552 (GRCm39)	I351F	probably damaging	Het
Zfhx4	T	G	3: 5,464,930 (GRCm39)	M1696R	possibly damaging	Het
Zfp746	A	G	6: 48,041,856 (GRCm39)	V289A	possibly damaging	Het
Zfyve26	A	C	12: 79,318,901 (GRCm39)	F1146V	probably 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
R0597:Il3ra	UTSW	14	14,351,166 (GRCm38)	critical splice donor site	probably null
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'- TGACCTCTGATCCCATGTGTGACC -3'
(R):5'- ATCAAAGGTGACCTCACGACCCTG -3'

Sequencing Primer
(F):5'- CCATGTGTGACCAGGGG -3'
(R):5'- CCCACCCAAGATGTGGC -3'

Posted On

2014-01-05