Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Il4ra'

21453

Institutional Source

Beutler Lab

Gene Symbol

Il4ra

Ensembl Gene

ENSMUSG00000030748

Gene Name

interleukin 4 receptor, alpha

Synonyms

IL-4 receptor alpha chain, CD124, Il4r

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

125151443-125178646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 125168242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 87 (C87F)

Ref Sequence

ENSEMBL: ENSMUSP00000145824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033004] [ENSMUST00000205985] [ENSMUST00000206217] [ENSMUST00000206846]

AlphaFold

P16382

Predicted Effect

probably damaging
Transcript: ENSMUST00000033004
AA Change: C87F

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

SMART Domains

Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: C87F

Domain	Start	End	E-Value	Type
Pfam:IL4Ra_N	28	122	9.9e-39	PFAM
FN3	124	211	3.14e0	SMART
low complexity region	369	385	N/A	INTRINSIC
low complexity region	562	574	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC
low complexity region	635	647	N/A	INTRINSIC
low complexity region	674	683	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205394

Predicted Effect

probably damaging
Transcript: ENSMUST00000205985
AA Change: C87F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206681

Predicted Effect

probably damaging
Transcript: ENSMUST00000206846
AA Change: C87F

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

Meta Mutation Damage Score

0.9356

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection. Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,342 (GRCm39)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm39)	I1351V	probably benign	Het
Acap1	A	T	11: 69,778,043 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,720,935 (GRCm39)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,510,384 (GRCm39)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,556,112 (GRCm39)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,945,491 (GRCm39)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,945,057 (GRCm39)	D371E	probably benign	Het
Bphl	A	G	13: 34,248,029 (GRCm39)		probably benign	Het
Caskin2	C	A	11: 115,691,820 (GRCm39)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,406,875 (GRCm39)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,901,999 (GRCm39)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 54,957,169 (GRCm39)	F83L	probably damaging	Het
Cep290	T	A	10: 100,372,787 (GRCm39)		probably benign	Het
Cep89	C	A	7: 35,127,687 (GRCm39)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,610,738 (GRCm39)	M45V	probably benign	Het
Col16a1	T	A	4: 129,946,650 (GRCm39)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,845,326 (GRCm39)	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,554,190 (GRCm39)		probably benign	Het
Dao	T	A	5: 114,158,024 (GRCm39)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,313,617 (GRCm39)	D885G	probably benign	Het
Dlx4	T	G	11: 95,032,055 (GRCm39)	M240L	probably benign	Het
Dnah5	C	T	15: 28,295,071 (GRCm39)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,015,717 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,083,491 (GRCm39)	D139E	probably benign	Het
Dynlt5	T	C	4: 102,859,649 (GRCm39)		probably benign	Het
Fam234b	T	C	6: 135,195,821 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,180,112 (GRCm39)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,815,269 (GRCm39)	N3667K	probably benign	Het
Gm5114	T	C	7: 39,057,880 (GRCm39)	I580V	probably benign	Het
Hapln1	A	T	13: 89,755,988 (GRCm39)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,972,188 (GRCm39)	V694A	probably benign	Het
Hps1	A	G	19: 42,759,550 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,681 (GRCm39)	R1216L	possibly damaging	Het
Kmt5b	A	G	19: 3,836,465 (GRCm39)	M1V	probably null	Het
Krit1	A	G	5: 3,872,178 (GRCm39)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,224,491 (GRCm39)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,333,567 (GRCm39)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,937,232 (GRCm39)	I25V	probably benign	Het
Mep1a	A	G	17: 43,808,777 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,376,209 (GRCm39)	W466R	probably benign	Het
Muc2	C	A	7: 141,302,691 (GRCm39)	F11L	probably benign	Het
Nebl	T	A	2: 17,397,794 (GRCm39)	M501L	probably benign	Het
Oga	A	T	19: 45,760,327 (GRCm39)	I277N	probably damaging	Het
Or11g2	A	G	14: 50,855,789 (GRCm39)	I37V	probably benign	Het
Or4p18	A	G	2: 88,232,699 (GRCm39)	V193A	probably benign	Het
Or5w8	A	G	2: 87,687,827 (GRCm39)	I103V	probably benign	Het
Or8g32	A	G	9: 39,305,238 (GRCm39)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,776,787 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,418,001 (GRCm39)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,378,230 (GRCm39)	L58H	probably damaging	Het
Prkch	C	A	12: 73,768,561 (GRCm39)	H444N	possibly damaging	Het
Reln	T	C	5: 22,209,134 (GRCm39)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,703,458 (GRCm39)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,977,998 (GRCm39)	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,831,864 (GRCm39)	R101H	probably benign	Het
Rtf1	G	A	2: 119,557,224 (GRCm39)	R443H	probably damaging	Het
Serac1	G	T	17: 6,099,115 (GRCm39)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,061,682 (GRCm39)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,833,350 (GRCm39)	W456R	probably damaging	Het
Slc28a2b	T	A	2: 122,347,550 (GRCm39)		probably null	Het
Slc35f5	C	T	1: 125,503,942 (GRCm39)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,435,170 (GRCm39)	R167Q	probably benign	Het
Spag4	T	C	2: 155,909,962 (GRCm39)	V302A	probably damaging	Het
Spire2	A	C	8: 124,084,836 (GRCm39)		probably benign	Het
Sptbn2	G	T	19: 4,774,772 (GRCm39)	V142L	probably damaging	Het
Syt17	T	A	7: 118,009,164 (GRCm39)	D352V	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Thsd7a	A	G	6: 12,554,907 (GRCm39)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,767,257 (GRCm39)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,517,685 (GRCm39)	A678D	probably benign	Het
Trim12c	A	G	7: 103,990,113 (GRCm39)		probably null	Het
Tsc22d1	A	G	14: 76,656,421 (GRCm39)	T885A	possibly damaging	Het
Ttn	T	C	2: 76,572,542 (GRCm39)	D26117G	probably damaging	Het
Ttn	T	A	2: 76,707,355 (GRCm39)		probably benign	Het
Ugt3a1	T	C	15: 9,306,342 (GRCm39)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,693,160 (GRCm39)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,484,313 (GRCm39)		probably benign	Het
Wt1	C	A	2: 104,963,802 (GRCm39)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,053,608 (GRCm39)	A368V	probably benign	Het
Zc3h13	A	T	14: 75,560,694 (GRCm39)	D428V	unknown	Het
Zcchc8	C	G	5: 123,845,400 (GRCm39)	G320A	probably damaging	Het
Znfx1	T	C	2: 166,886,130 (GRCm39)	E810G	possibly damaging	Het

Other mutations in Il4ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Il4ra	APN	7	125,168,347 (GRCm39)	critical splice donor site	probably null
IGL01067:Il4ra	APN	7	125,174,333 (GRCm39)	missense	probably benign	0.09
IGL01107:Il4ra	APN	7	125,175,086 (GRCm39)	missense	possibly damaging	0.88
IGL02224:Il4ra	APN	7	125,169,271 (GRCm39)	splice site	probably benign
IGL02249:Il4ra	APN	7	125,166,396 (GRCm39)	missense	probably benign	0.01
IGL02383:Il4ra	APN	7	125,170,676 (GRCm39)	missense	probably benign	0.06
IGL02614:Il4ra	APN	7	125,174,962 (GRCm39)	nonsense	probably null
IGL02879:Il4ra	APN	7	125,176,069 (GRCm39)	missense	possibly damaging	0.88
Haile	UTSW	7	125,173,889 (GRCm39)	critical splice donor site	probably null
Lowe	UTSW	7	125,166,393 (GRCm39)	missense	probably damaging	1.00
BB006:Il4ra	UTSW	7	125,174,348 (GRCm39)	missense	probably benign	0.00
BB016:Il4ra	UTSW	7	125,174,348 (GRCm39)	missense	probably benign	0.00
IGL02991:Il4ra	UTSW	7	125,174,833 (GRCm39)	missense	possibly damaging	0.70
PIT4418001:Il4ra	UTSW	7	125,175,510 (GRCm39)	missense	probably benign	0.01
R0066:Il4ra	UTSW	7	125,175,403 (GRCm39)	missense	possibly damaging	0.80
R0148:Il4ra	UTSW	7	125,174,709 (GRCm39)	missense	probably damaging	1.00
R0238:Il4ra	UTSW	7	125,174,371 (GRCm39)	splice site	probably benign
R0239:Il4ra	UTSW	7	125,174,371 (GRCm39)	splice site	probably benign
R0884:Il4ra	UTSW	7	125,173,835 (GRCm39)	missense	probably damaging	1.00
R1102:Il4ra	UTSW	7	125,173,889 (GRCm39)	critical splice donor site	probably null
R1622:Il4ra	UTSW	7	125,169,225 (GRCm39)	missense	possibly damaging	0.87
R1773:Il4ra	UTSW	7	125,166,354 (GRCm39)	missense	possibly damaging	0.94
R4510:Il4ra	UTSW	7	125,175,280 (GRCm39)	missense	possibly damaging	0.63
R4511:Il4ra	UTSW	7	125,175,280 (GRCm39)	missense	possibly damaging	0.63
R4612:Il4ra	UTSW	7	125,175,255 (GRCm39)	missense	probably benign	0.14
R5865:Il4ra	UTSW	7	125,174,348 (GRCm39)	missense	probably benign	0.00
R5996:Il4ra	UTSW	7	125,166,393 (GRCm39)	missense	probably damaging	1.00
R6057:Il4ra	UTSW	7	125,170,735 (GRCm39)	missense	probably damaging	1.00
R6246:Il4ra	UTSW	7	125,175,577 (GRCm39)	missense	probably benign	0.00
R7218:Il4ra	UTSW	7	125,174,950 (GRCm39)	missense	probably benign	0.01
R7624:Il4ra	UTSW	7	125,168,280 (GRCm39)	missense	probably damaging	1.00
R7904:Il4ra	UTSW	7	125,164,845 (GRCm39)	missense	probably benign	0.05
R7929:Il4ra	UTSW	7	125,174,348 (GRCm39)	missense	probably benign	0.00
R8360:Il4ra	UTSW	7	125,169,138 (GRCm39)	missense	probably damaging	1.00
R9573:Il4ra	UTSW	7	125,169,158 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CACAGCCAGAATAGCAGTGTCCAG -3'
(R):5'- TGCAGTCAATGTGTACCCCACCTC -3'

Sequencing Primer
(F):5'- GAGATGCTAACCAAGTCATTTCCTC -3'
(R):5'- CTCCCGCACTGGAGCAC -3'

Posted On

2013-04-11