Mutagenetix > Incidental Mutation

Incidental Mutation 'R9573:Il4ra'

722116

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

Accession Numbers

Essential gene?

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

Stock #

R9573 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125151443-125178646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125169158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 137 (S137T)

Ref Sequence

ENSEMBL: ENSMUSP00000033004 (fasta)

Gene Model

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

AlphaFold

P16382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033004
AA Change: S137T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: S137T

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

possibly damaging
Transcript: ENSMUST00000205985
AA Change: S137T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000206217

Predicted Effect

probably damaging
Transcript: ENSMUST00000206846
AA Change: S137T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,050,229 (GRCm39)	V472E	probably damaging	Het
Ak3	T	C	19: 29,003,667 (GRCm39)	I170V	probably benign	Het
Ank3	T	A	10: 69,791,977 (GRCm39)	L1058*	probably null	Het
Ankrd60	A	G	2: 173,410,791 (GRCm39)	V243A	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arid3c	T	G	4: 41,726,003 (GRCm39)	E200A	probably benign	Het
Astn2	T	G	4: 65,566,591 (GRCm39)	I856L	probably benign	Het
Bcs1l	C	A	1: 74,629,492 (GRCm39)	R177S	probably damaging	Het
Bin2	A	T	15: 100,560,433 (GRCm39)	F43I	probably damaging	Het
Braf	A	G	6: 39,600,544 (GRCm39)	L691P	probably damaging	Het
Bud23	C	T	5: 135,082,274 (GRCm39)	V266I	possibly damaging	Het
Casp12	A	T	9: 5,354,629 (GRCm39)	I333L	probably benign	Het
Cavin2	T	A	1: 51,328,795 (GRCm39)	I84N	probably damaging	Het
Ccdc168	A	C	1: 44,095,307 (GRCm39)	Y1930*	probably null	Het
Ccdc196	A	T	12: 78,244,098 (GRCm39)	N17I		Het
Cep170b	T	A	12: 112,691,154 (GRCm39)	F24I	probably damaging	Het
Chd9	A	G	8: 91,704,302 (GRCm39)	Y719C	unknown	Het
Commd7	A	G	2: 153,463,981 (GRCm39)	M137T	probably damaging	Het
Dmbt1	G	A	7: 130,657,910 (GRCm39)		probably null	Het
Dnah12	A	C	14: 26,414,619 (GRCm39)	T7P	probably benign	Het
Elapor1	A	T	3: 108,373,094 (GRCm39)	I548N	probably damaging	Het
Endod1	A	T	9: 14,292,247 (GRCm39)	L7Q	probably damaging	Het
Galnt14	C	T	17: 73,802,662 (GRCm39)	V477M	probably damaging	Het
Glis2	C	T	16: 4,429,505 (GRCm39)	R211C	probably damaging	Het
Gm4744	A	T	6: 40,925,497 (GRCm39)	V122D		Het
Gm4952	G	A	19: 12,604,090 (GRCm39)	M167I	probably benign	Het
Hyal4	T	C	6: 24,756,508 (GRCm39)	V242A	possibly damaging	Het
Ift122	T	G	6: 115,857,646 (GRCm39)	S131A	probably benign	Het
Lcor	T	A	19: 41,573,471 (GRCm39)	L742Q	probably damaging	Het
Lpin2	A	G	17: 71,538,185 (GRCm39)	K315R	probably benign	Het
Map3k6	T	C	4: 132,979,774 (GRCm39)	Y1258H	probably damaging	Het
Mapk9	A	T	11: 49,769,239 (GRCm39)	K290N	probably damaging	Het
Mfhas1	C	T	8: 36,143,903 (GRCm39)	H1045Y	possibly damaging	Het
Ndufaf7	C	A	17: 79,246,036 (GRCm39)	Q90K	probably damaging	Het
Nlrc3	A	T	16: 3,771,841 (GRCm39)	V157E	probably benign	Het
Npas4	A	G	19: 5,035,837 (GRCm39)	F776L	probably benign	Het
Nuggc	A	C	14: 65,848,603 (GRCm39)	D184A	probably benign	Het
Ogdhl	A	G	14: 32,066,678 (GRCm39)	E795G	probably damaging	Het
Or5a1	A	G	19: 12,097,509 (GRCm39)	I189T	probably damaging	Het
Or9a2	T	G	6: 41,748,940 (GRCm39)	I98L	probably benign	Het
Pcbp1	A	T	6: 86,502,677 (GRCm39)	M74K	possibly damaging	Het
Plk4	A	G	3: 40,763,257 (GRCm39)	D476G	probably benign	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Rab44	A	T	17: 29,364,277 (GRCm39)	Y617F	unknown	Het
Rabepk	T	C	2: 34,675,627 (GRCm39)	R168G	probably benign	Het
Rbmyf9	T	A	Y: 3,775,370 (GRCm39)	M40K	possibly damaging	Het
Rif1	T	G	2: 52,000,466 (GRCm39)	S1307A	probably benign	Het
Ror2	C	T	13: 53,265,467 (GRCm39)	V542I	probably benign	Het
Rtp1	A	G	16: 23,250,159 (GRCm39)	I175V	possibly damaging	Het
Slc11a2	T	A	15: 100,304,225 (GRCm39)	I158F	probably damaging	Het
Slc24a3	T	G	2: 145,455,548 (GRCm39)	M479R	probably damaging	Het
Slc4a9	T	C	18: 36,668,589 (GRCm39)	F723S	probably damaging	Het
Syne2	C	A	12: 75,927,134 (GRCm39)	N93K	probably damaging	Het
Sytl2	A	G	7: 90,057,599 (GRCm39)	Q846R	probably damaging	Het
Tas2r116	A	C	6: 132,833,140 (GRCm39)	H247P	probably benign	Het
Tcstv3	T	C	13: 120,779,130 (GRCm39)	S10P	probably damaging	Het
Tgm7	T	C	2: 120,934,606 (GRCm39)	N124S	probably benign	Het
Tmem219	A	T	7: 126,490,933 (GRCm39)	Y175N	probably damaging	Het
Tnfrsf18	G	A	4: 156,112,484 (GRCm39)	G114S	possibly damaging	Het
Trim38	G	A	13: 23,966,688 (GRCm39)	C45Y	probably benign	Het
Tshz1	T	C	18: 84,032,404 (GRCm39)	E668G	probably benign	Het
Ubr4	T	A	4: 139,148,450 (GRCm39)	M382K		Het
Vps39	T	C	2: 120,155,179 (GRCm39)	E549G	possibly damaging	Het
Wdr35	G	A	12: 9,078,014 (GRCm39)	G1135D	probably benign	Het
Zbtb46	A	G	2: 181,053,548 (GRCm39)	L388P	probably benign	Het
Zdhhc25	T	A	15: 88,485,307 (GRCm39)	M214K	probably damaging	Het
Zfp735	G	A	11: 73,602,936 (GRCm39)	E627K	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
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

Predicted Primers

PCR Primer
(F):5'- CATGTGTATGATTGCCTCAGAAGTG -3'
(R):5'- TCCAAAGACGGAGCATCCTTC -3'

Sequencing Primer
(F):5'- ATTGCCTCAGAAGTGATGAGCCC -3'
(R):5'- GAGCATCCTTCCCAGCCTG -3'

Posted On

2022-08-09