Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Il9r'

542466

Institutional Source

Beutler Lab

Gene Symbol

Il9r

Ensembl Gene

ENSMUSG00000020279

Gene Name

interleukin 9 receptor

Synonyms

MMRRC Submission

045382-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32137541-32150279 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 32143177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 260 (Q260*)

Ref Sequence

ENSEMBL: ENSMUSP00000118204 (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 null
Transcript: ENSMUST00000128311
AA Change: Q261*

SMART Domains

Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: Q261*

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

probably null
Transcript: ENSMUST00000142396
AA Change: Q266*

SMART Domains

Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: Q266*

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

probably null
Transcript: ENSMUST00000145401
AA Change: Q260*

SMART Domains

Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: Q260*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fam83c	T	A	2: 155,672,157 (GRCm39)	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,827,268 (GRCm39)	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or13e8	A	G	4: 43,697,170 (GRCm39)	M1T	probably null	Het
Or2ag17	A	T	7: 106,389,434 (GRCm39)	M258K	probably damaging	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	probably damaging	Het
Zfp943	T	C	17: 22,209,922 (GRCm39)	S65P	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
R1691:Il9r	UTSW	11	32,141,829 (GRCm39)	missense	possibly damaging	0.75
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
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'- AGAAGCTCCAGGCACACTTG -3'
(R):5'- ATTCTCTAGGACCCCGAACTCAG -3'

Sequencing Primer
(F):5'- CAGGCACACTTGTTCCTGATGG -3'
(R):5'- ACCGTATCGTTGGAGTGACC -3'

Posted On

2018-11-28