Mutagenetix > Incidental Mutation

Incidental Mutation 'R1691:Il9r'

191808

Institutional Source

Beutler Lab

Gene Symbol

Il9r

Ensembl Gene

ENSMUSG00000020279

Gene Name

interleukin 9 receptor

Synonyms

MMRRC Submission

039724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32137541-32150279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32141829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 309 (Q309L)

Ref Sequence

ENSEMBL: ENSMUSP00000119185 (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

probably benign
Transcript: ENSMUST00000128311
AA Change: Q304L

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: Q304L

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: Q309L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: Q309L

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: Q303L

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: Q303L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,148,814 (GRCm39)	S283P	probably damaging	Het
Adck2	T	A	6: 39,551,902 (GRCm39)	L223*	probably null	Het
Ank	T	C	15: 27,591,030 (GRCm39)	W390R	probably damaging	Het
Ano5	T	C	7: 51,240,327 (GRCm39)	Y752H	probably damaging	Het
Apcs	T	A	1: 172,722,160 (GRCm39)	D62V	probably damaging	Het
Atad5	A	G	11: 79,986,358 (GRCm39)	T482A	probably benign	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,654,134 (GRCm39)		probably null	Het
Ccdc157	G	A	11: 4,099,030 (GRCm39)	P159S	probably benign	Het
Cdhr3	C	T	12: 33,132,246 (GRCm39)	V126M	probably damaging	Het
Cdr1	T	C	X: 60,227,780 (GRCm39)	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,180,559 (GRCm39)	V9A	probably benign	Het
Col19a1	T	C	1: 24,576,022 (GRCm39)	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038 (GRCm39)	H972Q	unknown	Het
Col3a1	T	A	1: 45,387,776 (GRCm39)		probably benign	Het
Dbnl	A	G	11: 5,747,174 (GRCm39)	S235G	probably null	Het
Dock4	T	A	12: 40,775,754 (GRCm39)	S566T	probably benign	Het
Efcab6	T	C	15: 83,817,407 (GRCm39)	D722G	probably benign	Het
Esyt1	T	C	10: 128,361,403 (GRCm39)	Q97R	probably benign	Het
Fat2	G	A	11: 55,202,678 (GRCm39)	T132I	probably damaging	Het
Fgd2	C	T	17: 29,597,918 (GRCm39)	Q618*	probably null	Het
Flnc	T	A	6: 29,441,213 (GRCm39)	V389E	probably benign	Het
Garnl3	A	T	2: 32,887,675 (GRCm39)	Y778*	probably null	Het
Gpaa1	A	T	15: 76,216,416 (GRCm39)	Y45F	probably damaging	Het
Grid1	A	T	14: 35,174,286 (GRCm39)	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,705,314 (GRCm39)	D133G	probably damaging	Het
Hp	T	C	8: 110,302,204 (GRCm39)	D248G	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna13	T	C	4: 88,562,291 (GRCm39)	D111G	probably benign	Het
Insyn2a	C	T	7: 134,520,015 (GRCm39)	A172T	probably damaging	Het
Ints1	A	T	5: 139,754,687 (GRCm39)	D617E	probably damaging	Het
Kcnj12	A	T	11: 60,961,103 (GRCm39)	N467I	possibly damaging	Het
Kmt2e	T	A	5: 23,669,847 (GRCm39)	D111E	probably damaging	Het
Lama4	A	G	10: 38,956,559 (GRCm39)	K1161E	probably benign	Het
Lamc1	C	T	1: 153,122,995 (GRCm39)	D732N	probably benign	Het
Larp1	A	G	11: 57,938,874 (GRCm39)	T517A	probably benign	Het
Lrp12	A	G	15: 39,735,661 (GRCm39)	I757T	probably damaging	Het
Max	T	C	12: 77,000,046 (GRCm39)	D23G	possibly damaging	Het
Nars1	A	T	18: 64,649,485 (GRCm39)		probably null	Het
Nipsnap3a	G	A	4: 52,994,185 (GRCm39)	D91N	probably null	Het
Nphp3	A	G	9: 103,880,010 (GRCm39)	T11A	probably benign	Het
Nr2c2	C	A	6: 92,133,673 (GRCm39)	T226K	probably damaging	Het
Nrxn1	A	G	17: 90,469,717 (GRCm39)	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,425,537 (GRCm39)	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or10a3b	A	G	7: 108,444,348 (GRCm39)	Y290H	possibly damaging	Het
Or13a21	A	T	7: 139,998,855 (GRCm39)	L277Q	probably damaging	Het
Or4e1	A	T	14: 52,701,288 (GRCm39)	H59Q	possibly damaging	Het
Or4k37	G	A	2: 111,159,198 (GRCm39)	V145I	probably benign	Het
Or6d14	A	G	6: 116,533,538 (GRCm39)	T51A	probably benign	Het
Or9i1b	C	T	19: 13,896,783 (GRCm39)	T133I	probably benign	Het
Pcsk1	A	G	13: 75,280,344 (GRCm39)	D723G	possibly damaging	Het
Phrf1	C	A	7: 140,841,787 (GRCm39)	Y715*	probably null	Het
Pigm	T	C	1: 172,204,354 (GRCm39)	V30A	probably benign	Het
Pkd1l2	A	T	8: 117,783,158 (GRCm39)	F721I	possibly damaging	Het
Pla2g15	A	G	8: 106,881,581 (GRCm39)	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,893,365 (GRCm39)	I182N	probably damaging	Het
Prss23	T	C	7: 89,159,922 (GRCm39)	K49R	probably benign	Het
Rps6	A	T	4: 86,775,046 (GRCm39)	D19E	probably benign	Het
Slco6d1	A	T	1: 98,435,292 (GRCm39)	H669L	probably benign	Het
Svil	G	T	18: 5,056,336 (GRCm39)	C490F	probably benign	Het
Tom1	T	C	8: 75,778,227 (GRCm39)	I103T	probably damaging	Het
Trim10	T	A	17: 37,187,791 (GRCm39)	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,722,752 (GRCm39)	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,246,551 (GRCm39)	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,571,991 (GRCm39)	I14L	probably benign	Het
Unc5a	A	C	13: 55,150,737 (GRCm39)	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,453,337 (GRCm39)	M1K	probably null	Het
Vmn2r58	C	T	7: 41,486,913 (GRCm39)	G661R	possibly damaging	Het
Vps41	A	C	13: 19,025,413 (GRCm39)	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489 (GRCm39)	F1818L	possibly damaging	Het
Zp3	G	A	5: 136,009,135 (GRCm39)	E50K	possibly damaging	Het

Other mutations in Il9r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03267:Il9r	APN	11	32,141,778 (GRCm39)	missense	possibly damaging	0.76
PIT4305001:Il9r	UTSW	11	32,144,734 (GRCm39)	missense	probably benign
PIT4651001:Il9r	UTSW	11	32,141,798 (GRCm39)	missense	probably benign	0.02
R1695:Il9r	UTSW	11	32,143,227 (GRCm39)	missense	probably benign	0.31
R4816:Il9r	UTSW	11	32,142,654 (GRCm39)	missense	possibly damaging	0.93
R5381:Il9r	UTSW	11	32,140,715 (GRCm39)	missense	probably benign	0.14
R5701:Il9r	UTSW	11	32,143,263 (GRCm39)	missense	probably benign	0.41
R6015:Il9r	UTSW	11	32,142,674 (GRCm39)	missense	probably benign	0.14
R6445:Il9r	UTSW	11	32,141,000 (GRCm39)	missense	possibly damaging	0.92
R6584:Il9r	UTSW	11	32,141,782 (GRCm39)	missense	probably benign	0.01
R6976:Il9r	UTSW	11	32,143,177 (GRCm39)	nonsense	probably null
R7171:Il9r	UTSW	11	32,142,671 (GRCm39)	missense	probably benign	0.15
R7326:Il9r	UTSW	11	32,144,389 (GRCm39)	missense	possibly damaging	0.78
R7948:Il9r	UTSW	11	32,144,486 (GRCm39)	missense	probably damaging	1.00
R9679:Il9r	UTSW	11	32,140,853 (GRCm39)	missense	probably benign	0.05
X0028:Il9r	UTSW	11	32,140,793 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTAGGGCAACATGAGCAAGACAC -3'
(R):5'- CTTGAGGACAGGTTTGAATACAGTGGG -3'

Sequencing Primer
(F):5'- CAATATGTACCCTCTGAGGCTAGG -3'
(R):5'- GGCCCATTTGCTAGGTAGAAG -3'

Posted On

2014-05-14