Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02991:Il4ra'

452923

Institutional Source

Beutler Lab

Gene Symbol

Il4ra

Ensembl Gene

ENSMUSG00000030748

Gene Name

interleukin 4 receptor, alpha

Synonyms

IL-4 receptor alpha chain, CD124, Il4r

Accession Numbers

Essential gene?

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

Stock #

IGL02991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125151443-125178646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125174833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 347 (V347A)

Ref Sequence

ENSEMBL: ENSMUSP00000033004 (fasta)

Gene Model

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

AlphaFold

P16382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033004
AA Change: V347A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: V347A

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

noncoding transcript
Transcript: ENSMUST00000206681

Predicted Effect

probably benign
Transcript: ENSMUST00000206846

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (73/77)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Adam23	T	C	1: 63,586,978 (GRCm39)		probably null	Het
Aptx	C	A	4: 40,686,687 (GRCm39)	G199C	probably damaging	Het
Asap2	T	C	12: 21,299,294 (GRCm39)		probably benign	Het
Atp11b	A	G	3: 35,881,140 (GRCm39)	T566A	probably benign	Het
Bcas3	C	T	11: 85,348,713 (GRCm39)	Q202*	probably null	Het
Cacna1h	C	A	17: 25,610,286 (GRCm39)	R740L	possibly damaging	Het
Casp8	T	A	1: 58,866,438 (GRCm39)	N146K	probably benign	Het
Ccdc63	T	C	5: 122,246,275 (GRCm39)	M549V	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh20	T	C	1: 104,861,972 (GRCm39)	S51P	probably benign	Het
Chd7	T	C	4: 8,828,398 (GRCm39)	M1113T	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	ACC	AC	1: 139,164,822 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cxcl11	C	T	5: 92,509,169 (GRCm39)	R28H	probably damaging	Het
Defb40	C	T	8: 19,025,119 (GRCm39)	C29Y	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fen1	A	T	19: 10,178,026 (GRCm39)	D139E	probably benign	Het
Frem3	A	G	8: 81,395,511 (GRCm39)	E1846G	probably damaging	Het
Gria2	T	A	3: 80,615,116 (GRCm39)	K455*	probably null	Het
Hmcn1	A	T	1: 150,614,409 (GRCm39)	N1332K	possibly damaging	Het
Htr5b	C	T	1: 121,455,756 (GRCm39)	V55M	probably benign	Het
Ighv6-5	A	T	12: 114,380,315 (GRCm39)	N86K	probably benign	Het
Itih5	A	G	2: 10,256,162 (GRCm39)	E876G	probably benign	Het
Itpkb	A	T	1: 180,155,279 (GRCm39)		probably benign	Het
Lbr	T	C	1: 181,649,117 (GRCm39)	Y334C	probably damaging	Het
Lrfn2	T	C	17: 49,377,732 (GRCm39)	L271P	probably damaging	Het
Lss	T	A	10: 76,379,745 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,132,091 (GRCm39)	V731A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3b	T	A	4: 35,083,805 (GRCm39)	Q128L	probably benign	Het
Mog	T	C	17: 37,334,091 (GRCm39)	M1V	probably null	Het
Mrpl4	A	G	9: 20,919,901 (GRCm39)	Y284C	probably damaging	Het
Mtus2	T	G	5: 148,250,310 (GRCm39)	V310G	probably damaging	Het
Mup11	ACAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCA	4: 60,618,275 (GRCm39)		probably benign	Het
Odad4	A	G	11: 100,444,698 (GRCm39)	S285G	probably benign	Het
Or10g9	T	C	9: 39,911,698 (GRCm39)	Y275C	probably damaging	Het
Or8g55	T	A	9: 39,785,362 (GRCm39)	S264T	probably benign	Het
Orc3	T	G	4: 34,593,083 (GRCm39)	Q328P	probably damaging	Het
Otulinl	T	C	15: 27,658,388 (GRCm39)	S211G	possibly damaging	Het
Pcdhb20	G	T	18: 37,639,264 (GRCm39)	G597C	probably damaging	Het
Pdxdc1	A	G	16: 13,675,260 (GRCm39)	I334T	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Proz	G	A	8: 13,123,490 (GRCm39)	E254K	probably benign	Het
Psma6	T	C	12: 55,454,357 (GRCm39)		probably benign	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,776,192 (GRCm39)	V1115A	probably damaging	Het
Sfxn5	G	T	6: 85,266,190 (GRCm39)	N102K	possibly damaging	Het
Sgo2a	G	T	1: 58,054,514 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,249,049 (GRCm39)	M1K	probably null	Het
Spag5	T	A	11: 78,205,077 (GRCm39)	L621M	probably damaging	Het
Spata31	A	G	13: 65,068,533 (GRCm39)	Y227C	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Supt6	T	C	11: 78,116,179 (GRCm39)	E728G	probably damaging	Het
Sympk	T	A	7: 18,764,502 (GRCm39)	L69Q	probably damaging	Het
Timd4	T	A	11: 46,732,974 (GRCm39)		probably benign	Het
Trh	G	A	6: 92,220,719 (GRCm39)	R48W	probably damaging	Het
Trip12	C	A	1: 84,716,536 (GRCm39)	D383Y	probably damaging	Het
Tspo2	T	A	17: 48,757,014 (GRCm39)	I23F	possibly damaging	Het
Tspyl5	A	G	15: 33,686,989 (GRCm39)	S319P	probably damaging	Het
Txlnb	A	G	10: 17,717,201 (GRCm39)	K403E	probably damaging	Het
Vmn2r34	C	A	7: 7,675,720 (GRCm39)	C556F	probably damaging	Het
Vps13c	C	A	9: 67,821,159 (GRCm39)	A1223E	probably 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
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
R0127:Il4ra	UTSW	7	125,168,242 (GRCm39)	missense	probably damaging	1.00
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'- GTGGCAAAACTTAACCCTCAG -3'
(R):5'- TTCTCAGCCTCCAACAAGTC -3'

Sequencing Primer
(F):5'- AGCTTTACCTCTGCAGGCAC -3'
(R):5'- AAACAGGTTCTCAGTGAGCC -3'

Posted On

2017-01-24