Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4418001:Il4ra'

555587

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: 0.066) question?

Stock #

PIT4418001 (G1)

Quality Score

152.008

Status

Not validated

Chromosome

Chromosomal Location

125151443-125178646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125175510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 573 (G573S)

Ref Sequence

ENSEMBL: ENSMUSP00000033004 (fasta)

Gene Model

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

AlphaFold

P16382

Predicted Effect

probably benign
Transcript: ENSMUST00000033004
AA Change: G573S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: G573S

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

probably benign
Transcript: ENSMUST00000206846

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,816,630 (GRCm39)	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,161,961 (GRCm39)	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,074,587 (GRCm39)	I1049F	probably benign	Het
Atg9b	A	T	5: 24,590,513 (GRCm39)	S859T	possibly damaging	Het
Banp	G	A	8: 122,732,365 (GRCm39)	A380T	probably damaging	Het
Brinp3	C	T	1: 146,777,161 (GRCm39)	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,631,384 (GRCm39)	E1155G		Het
Capn12	T	C	7: 28,585,961 (GRCm39)	S270P	probably benign	Het
Cbs	A	T	17: 31,834,495 (GRCm39)	I498N	possibly damaging	Het
Cep68	T	C	11: 20,189,731 (GRCm39)	K427R	probably benign	Het
Cobl	G	A	11: 12,206,240 (GRCm39)	T545I	possibly damaging	Het
Cr2	T	A	1: 194,839,760 (GRCm39)	M556L	probably benign	Het
Crebbp	A	G	16: 3,932,689 (GRCm39)	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,766,590 (GRCm39)	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,008,999 (GRCm39)	L159P		Het
Dnajb4	A	T	3: 151,899,134 (GRCm39)	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,498,260 (GRCm39)	F369S	probably damaging	Het
Dtl	A	T	1: 191,273,429 (GRCm39)	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,022,877 (GRCm39)	Q612L	possibly damaging	Het
Efr3b	A	T	12: 4,030,490 (GRCm39)	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,003,494 (GRCm39)	Q1085L	probably damaging	Het
Ell	T	C	8: 71,034,331 (GRCm39)	V199A	probably damaging	Het
Elmod2	G	T	8: 84,048,171 (GRCm39)	T97K	probably benign	Het
Epn3	T	C	11: 94,386,956 (GRCm39)	E138G	probably damaging	Het
Esf1	A	T	2: 140,001,697 (GRCm39)	F383L	probably benign	Het
Fam193a	A	T	5: 34,597,879 (GRCm39)	T559S	probably damaging	Het
Galr2	T	C	11: 116,174,084 (GRCm39)	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411 (GRCm38)	I237M	probably benign	Het
Gm5160	A	T	18: 14,558,339 (GRCm39)	I139F	probably damaging	Het
Gpr15	T	C	16: 58,538,313 (GRCm39)	T259A	probably benign	Het
Iffo1	A	G	6: 125,126,746 (GRCm39)	K293E	possibly damaging	Het
Ikbip	T	A	10: 90,932,395 (GRCm39)	H346Q	probably benign	Het
Ing2	A	T	8: 48,122,125 (GRCm39)	M141K	probably benign	Het
Itga6	T	C	2: 71,664,414 (GRCm39)	S517P	probably benign	Het
Itprid1	T	G	6: 55,945,330 (GRCm39)	S684A	probably damaging	Het
Kcnab1	A	G	3: 65,265,741 (GRCm39)	E295G	probably benign	Het
Klhl21	A	C	4: 152,099,835 (GRCm39)	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,714,553 (GRCm39)	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,717,052 (GRCm39)	L64F	probably null	Het
Mos	T	C	4: 3,870,814 (GRCm39)	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,775,591 (GRCm39)	F338V	probably damaging	Het
Nefl	G	A	14: 68,323,979 (GRCm39)	V406M	probably damaging	Het
Nfam1	C	A	15: 82,885,689 (GRCm39)	R181L	probably damaging	Het
Ntn5	A	G	7: 45,335,925 (GRCm39)	R119G	probably damaging	Het
Or12e10	G	T	2: 87,640,938 (GRCm39)	C258F	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or7a40	T	C	16: 16,491,719 (GRCm39)	N42S	probably damaging	Het
Plch2	A	T	4: 155,073,960 (GRCm39)	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,504,266 (GRCm39)	Q111R	probably null	Het
Ptchd3	T	A	11: 121,732,566 (GRCm39)	Y485*	probably null	Het
Ptchd4	T	A	17: 42,813,980 (GRCm39)	I627N	probably damaging	Het
Retnlb	T	C	16: 48,637,631 (GRCm39)	V19A	probably benign	Het
Rimbp2	T	A	5: 128,857,425 (GRCm39)	T809S	probably benign	Het
Sema6c	T	A	3: 95,077,401 (GRCm39)	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,479,821 (GRCm39)	A631V	unknown	Het
Snai3	A	T	8: 123,183,073 (GRCm39)	H157Q	probably benign	Het
Snx15	T	C	19: 6,173,961 (GRCm39)	Y52C	probably damaging	Het
Strbp	T	C	2: 37,535,504 (GRCm39)	E68G	probably benign	Het
Sun1	T	A	5: 139,212,343 (GRCm39)	D155E	probably damaging	Het
Susd2	T	C	10: 75,474,183 (GRCm39)	D627G	probably benign	Het
Tas2r108	T	A	6: 40,470,614 (GRCm39)	I30K	probably damaging	Het
Tmc2	T	C	2: 130,090,571 (GRCm39)	V639A	probably damaging	Het
Trmt1	T	C	8: 85,424,299 (GRCm39)	Y445H	probably damaging	Het
Ttn	A	T	2: 76,597,554 (GRCm39)	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 11,910,766 (GRCm39)	V216G	probably damaging	Het
Wdr64	C	A	1: 175,571,160 (GRCm39)	Y331*	probably null	Het
Zfyve28	A	T	5: 34,390,721 (GRCm39)	V180E	probably damaging	Het
Zic4	C	T	9: 91,261,447 (GRCm39)	T234I	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
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'- GTTTTAGTGACTGCTGTAGCCC -3'
(R):5'- ATTCTGGAAGGGCTTGTAGC -3'

Sequencing Primer
(F):5'- AAATCCTGGAGAGCTGGCTC -3'
(R):5'- GTAGCCTCCATGCCCATCG -3'

Posted On

2019-06-07