Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Il9r'

369818

Institutional Source

Beutler Lab

Gene Symbol

Il9r

Ensembl Gene

ENSMUSG00000020279

Gene Name

interleukin 9 receptor

Synonyms

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4816 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

32187541-32200279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32192654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 295 (S295A)

Ref Sequence

ENSEMBL: ENSMUSP00000119557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020518] [ENSMUST00000128311] [ENSMUST00000142396] [ENSMUST00000145401]

AlphaFold

Q01114

Predicted Effect

probably benign
Transcript: ENSMUST00000020518

SMART Domains

Protein: ENSMUSP00000020518
Gene: ENSMUSG00000020279

Domain	Start	End	E-Value	Type
SCOP:d1gh7a2	47	98	1e-3	SMART
Blast:FN3	49	95	4e-22	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128311
AA Change: S295A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: S295A

Domain	Start	End	E-Value	Type
PDB:4GS7\|B	48	254	5e-6	PDB
SCOP:d1gh7a2	143	257	4e-11	SMART
Blast:FN3	146	229	5e-43	BLAST
transmembrane domain	270	292	N/A	INTRINSIC
low complexity region	343	352	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131979

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142396
AA Change: S300A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: S300A

Domain	Start	End	E-Value	Type
PDB:4GS7\|B	53	259	5e-6	PDB
SCOP:d1gh7a2	148	262	3e-11	SMART
Blast:FN3	151	234	5e-43	BLAST
transmembrane domain	275	297	N/A	INTRINSIC
low complexity region	348	357	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145401
AA Change: S294A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: S294A

Domain	Start	End	E-Value	Type
Blast:FN3	146	228	3e-42	BLAST
SCOP:d1egja_	147	256	1e-10	SMART
transmembrane domain	269	291	N/A	INTRINSIC
low complexity region	342	351	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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 a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are more susceptible to experimental autoimmune encephalomyelitis, a defect partially attributable to defective regulatory T cell function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 46,104,707 (GRCm38)	A1562S	probably benign	Het
Adam30	C	A	3: 98,162,745 (GRCm38)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,528,674 (GRCm38)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,653,299 (GRCm38)		probably null	Het
Baiap3	T	A	17: 25,247,295 (GRCm38)		probably benign	Het
Bicra	T	C	7: 15,988,906 (GRCm38)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,982,364 (GRCm38)		probably benign	Het
C2cd3	C	A	7: 100,391,019 (GRCm38)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,115,269 (GRCm38)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991 (GRCm38)		probably null	Het
Cdcp2	A	G	4: 107,106,772 (GRCm38)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,409,077 (GRCm38)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,479,222 (GRCm38)	I39N	probably damaging	Het
Cep152	A	C	2: 125,563,754 (GRCm38)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,245,108 (GRCm38)	I42T	probably damaging	Het
Cfap61	G	T	2: 146,143,100 (GRCm38)	V955L	probably damaging	Het
Cit	G	A	5: 115,908,691 (GRCm38)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,810,852 (GRCm38)	M328V	probably benign	Het
Cntn4	A	T	6: 106,550,497 (GRCm38)	I447L	probably benign	Het
Csmd3	T	C	15: 47,857,934 (GRCm38)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,372,985 (GRCm38)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,575,150 (GRCm38)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,333,722 (GRCm38)	T550S	probably benign	Het
Dtnb	A	G	12: 3,749,505 (GRCm38)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,789,758 (GRCm38)		probably benign	Het
Efl1	T	A	7: 82,671,719 (GRCm38)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,484,003 (GRCm38)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,806,366 (GRCm38)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,670,408 (GRCm38)	A196V	probably benign	Het
Gbp3	T	C	3: 142,567,574 (GRCm38)	V294A	probably damaging	Het
Gls	A	G	1: 52,199,945 (GRCm38)		probably benign	Het
Gm15130	A	T	2: 111,135,369 (GRCm38)		probably benign	Het
Gm6185	A	T	1: 161,213,158 (GRCm38)		noncoding transcript	Het
Gpr171	T	A	3: 59,098,096 (GRCm38)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,339,248 (GRCm38)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,283,820 (GRCm38)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,715,965 (GRCm38)	M60T	probably benign	Het
H2-M5	A	G	17: 36,989,417 (GRCm38)		probably benign	Het
Igf2r	A	T	17: 12,684,097 (GRCm38)	N2355K	probably damaging	Het
Ipo9	T	C	1: 135,406,550 (GRCm38)	T313A	probably benign	Het
Kalrn	C	T	16: 34,514,019 (GRCm38)		probably benign	Het
Lama3	G	A	18: 12,477,604 (GRCm38)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,670,375 (GRCm38)	C242*	probably null	Het
Lipe	A	G	7: 25,380,143 (GRCm38)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 70,618,076 (GRCm38)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,568,866 (GRCm38)		probably null	Het
Lrrd1	T	A	5: 3,851,126 (GRCm38)	L477*	probably null	Het
Lrriq4	A	G	3: 30,660,047 (GRCm38)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,381,092 (GRCm38)	Y1248C	unknown	Het
Maml1	G	T	11: 50,258,335 (GRCm38)	N859K	possibly damaging	Het
Mdm1	A	T	10: 118,146,877 (GRCm38)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,168,090 (GRCm38)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,211,021 (GRCm38)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,604,097 (GRCm38)	V405A	probably damaging	Het
Naip5	T	C	13: 100,219,696 (GRCm38)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,219,687 (GRCm38)	T1140M	probably benign	Het
Naip5	G	A	13: 100,219,681 (GRCm38)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,456,624 (GRCm38)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,548,301 (GRCm38)	I235V	probably benign	Het
Nyap2	T	A	1: 81,241,313 (GRCm38)	L318Q	probably damaging	Het
Nynrin	G	A	14: 55,872,001 (GRCm38)	V1522M	probably damaging	Het
Oog3	A	G	4: 144,159,161 (GRCm38)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,670,735 (GRCm38)	P11L	probably benign	Het
Or5b107	A	G	19: 13,165,124 (GRCm38)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,791,439 (GRCm38)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,773,430 (GRCm38)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,800,047 (GRCm38)	N74K	probably benign	Het
Pax6	T	C	2: 105,683,784 (GRCm38)		probably benign	Het
Pbrm1	G	A	14: 31,110,448 (GRCm38)	R1441K	probably benign	Het
Pcdha9	C	T	18: 36,999,458 (GRCm38)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,487,397 (GRCm38)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,687,995 (GRCm38)		probably null	Het
Pds5a	A	T	5: 65,651,289 (GRCm38)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,574,320 (GRCm38)		probably benign	Het
Phykpl	A	G	11: 51,592,953 (GRCm38)	E220G	probably benign	Het
Pias2	T	C	18: 77,105,891 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,199,415 (GRCm38)	I3302L	probably damaging	Het
Poli	A	G	18: 70,522,751 (GRCm38)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,679,379 (GRCm38)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,856,800 (GRCm38)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,198,397 (GRCm38)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,822,576 (GRCm38)	F59S	probably benign	Het
Sanbr	A	C	11: 23,615,243 (GRCm38)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,872,339 (GRCm38)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,413,646 (GRCm38)	T412I	probably benign	Het
Shank2	C	A	7: 144,052,306 (GRCm38)	N75K	probably damaging	Het
Shank3	T	A	15: 89,543,115 (GRCm38)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm38)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,713,838 (GRCm38)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,069,020 (GRCm38)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm38)	T292A	probably benign	Het
Spag9	T	C	11: 94,048,599 (GRCm38)		probably benign	Het
Tas2r113	C	T	6: 132,893,782 (GRCm38)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,138,741 (GRCm38)	S530G	probably benign	Het
Tenm2	A	G	11: 36,027,290 (GRCm38)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,641,149 (GRCm38)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,578,784 (GRCm38)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,788,281 (GRCm38)	E195V	probably damaging	Het
Try5	T	C	6: 41,313,415 (GRCm38)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm38)		probably benign	Het
Vmn2r105	T	C	17: 20,208,691 (GRCm38)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,867,947 (GRCm38)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,997,768 (GRCm38)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,415,694 (GRCm38)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,714,248 (GRCm38)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,674,286 (GRCm38)	T642I	possibly damaging	Het

Other mutations in Il9r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03267:Il9r	APN	11	32,191,778 (GRCm38)	missense	possibly damaging	0.76
PIT4305001:Il9r	UTSW	11	32,194,734 (GRCm38)	missense	probably benign
PIT4651001:Il9r	UTSW	11	32,191,798 (GRCm38)	missense	probably benign	0.02
R1691:Il9r	UTSW	11	32,191,829 (GRCm38)	missense	possibly damaging	0.75
R1695:Il9r	UTSW	11	32,193,227 (GRCm38)	missense	probably benign	0.31
R5381:Il9r	UTSW	11	32,190,715 (GRCm38)	missense	probably benign	0.14
R5701:Il9r	UTSW	11	32,193,263 (GRCm38)	missense	probably benign	0.41
R6015:Il9r	UTSW	11	32,192,674 (GRCm38)	missense	probably benign	0.14
R6445:Il9r	UTSW	11	32,191,000 (GRCm38)	missense	possibly damaging	0.92
R6584:Il9r	UTSW	11	32,191,782 (GRCm38)	missense	probably benign	0.01
R6976:Il9r	UTSW	11	32,193,177 (GRCm38)	nonsense	probably null
R7171:Il9r	UTSW	11	32,192,671 (GRCm38)	missense	probably benign	0.15
R7326:Il9r	UTSW	11	32,194,389 (GRCm38)	missense	possibly damaging	0.78
R7948:Il9r	UTSW	11	32,194,486 (GRCm38)	missense	probably damaging	1.00
R9679:Il9r	UTSW	11	32,190,853 (GRCm38)	missense	probably benign	0.05
X0028:Il9r	UTSW	11	32,190,793 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTATCCATTTACACCGTGGCC -3'
(R):5'- TTGGCTCAGAGAACTAGTGGTG -3'

Sequencing Primer
(F):5'- GTGGCCTGCATCCTTTTACAGAC -3'
(R):5'- ATAGACTCTCTCTGCCCA -3'

Posted On

2016-02-04