Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Il9r'

424734

Institutional Source

Beutler Lab

Gene Symbol

Il9r

Ensembl Gene

ENSMUSG00000020279

Gene Name

interleukin 9 receptor

Synonyms

MMRRC Submission

042956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5381 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

32137541-32150279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32140715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 435 (D435A)

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 benign
Transcript: ENSMUST00000128311
AA Change: D436A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: D436A

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

probably benign
Transcript: ENSMUST00000142396
AA Change: D441A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: D441A

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 benign
Transcript: ENSMUST00000145401
AA Change: D435A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: D435A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	G	T	11: 65,044,137 (GRCm39)	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,262,393 (GRCm39)		noncoding transcript	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,804,284 (GRCm39)	T900A	probably benign	Het
Anp32a	A	C	9: 62,279,459 (GRCm39)	E107A	probably damaging	Het
Arhgef40	T	C	14: 52,229,306 (GRCm39)	I623T	probably damaging	Het
Camsap3	T	A	8: 3,653,812 (GRCm39)	I483N	probably damaging	Het
Card9	G	A	2: 26,248,895 (GRCm39)	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,365,849 (GRCm39)	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,852,701 (GRCm39)	L422*	probably null	Het
Ccdc198	T	C	14: 49,470,364 (GRCm39)	D185G	probably damaging	Het
Ccdc73	A	T	2: 104,820,270 (GRCm39)	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,310,073 (GRCm39)	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,791,647 (GRCm39)	N317K	probably benign	Het
Col6a3	T	C	1: 90,703,334 (GRCm39)	R2471G	unknown	Het
Crocc	C	T	4: 140,756,622 (GRCm39)	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,604,611 (GRCm39)	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,407,034 (GRCm39)	D232E	probably benign	Het
Cuedc1	T	A	11: 88,078,812 (GRCm39)		probably null	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dusp6	G	A	10: 99,102,129 (GRCm39)	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,192,516 (GRCm39)	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,032,593 (GRCm39)	T70A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Il12b	C	A	11: 44,298,699 (GRCm39)	D51E	possibly damaging	Het
Jakmip2	T	C	18: 43,715,025 (GRCm39)	D167G	probably damaging	Het
Klrd1	A	G	6: 129,572,397 (GRCm39)	D63G	possibly damaging	Het
Lactb	A	G	9: 66,863,297 (GRCm39)	L439P	probably damaging	Het
Laptm5	T	C	4: 130,660,969 (GRCm39)		probably benign	Het
Lgals1	A	G	15: 78,814,223 (GRCm39)	D96G	probably benign	Het
Lrp8	A	T	4: 107,726,307 (GRCm39)	H871L	probably damaging	Het
Mfap4	A	T	11: 61,378,756 (GRCm39)	I235F	probably benign	Het
Muc6	G	A	7: 141,217,836 (GRCm39)	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,449,172 (GRCm39)	Y91*	probably null	Het
Osbp2	A	G	11: 3,655,593 (GRCm39)	Y383H	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Palb2	G	T	7: 121,727,636 (GRCm39)	T78K	probably benign	Het
Panx2	G	T	15: 88,944,433 (GRCm39)	V53L	probably damaging	Het
Pip4p1	T	C	14: 51,166,495 (GRCm39)	E161G	probably benign	Het
Pitx1	T	C	13: 55,973,892 (GRCm39)	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,481,904 (GRCm39)		probably null	Het
Pnldc1	T	G	17: 13,109,283 (GRCm39)	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,559,357 (GRCm39)	T513P	probably benign	Het
Pram1	A	T	17: 33,860,600 (GRCm39)	Q389L	probably damaging	Het
Prg4	T	C	1: 150,330,204 (GRCm39)		probably benign	Het
Prkch	C	A	12: 73,738,366 (GRCm39)	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Rad51c	A	T	11: 87,288,459 (GRCm39)	D241E	probably benign	Het
Rara	T	G	11: 98,862,410 (GRCm39)	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,571,544 (GRCm39)	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,522,810 (GRCm39)	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,149,382 (GRCm39)	L736Q	probably damaging	Het
Slco2a1	A	T	9: 102,945,213 (GRCm39)	D196V	probably damaging	Het
Sp3	C	A	2: 72,800,910 (GRCm39)	A368S	probably benign	Het
Stk24	A	T	14: 121,531,645 (GRCm39)	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,027,379 (GRCm39)	T96A	probably benign	Het
Tm2d3	G	A	7: 65,351,420 (GRCm39)	G225S	probably damaging	Het
Urb2	T	C	8: 124,756,651 (GRCm39)	V786A	probably benign	Het
Usp32	C	T	11: 84,949,953 (GRCm39)		probably benign	Het
Usp54	C	T	14: 20,636,144 (GRCm39)	G300D	probably damaging	Het
Vmn1r124	T	A	7: 20,994,323 (GRCm39)	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 11,775,952 (GRCm39)	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,437,219 (GRCm39)	Q422K	probably benign	Het
Vmn2r76	A	G	7: 85,874,496 (GRCm39)	F827S	probably damaging	Het
Vps52	A	G	17: 34,177,275 (GRCm39)	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zic2	A	G	14: 122,713,227 (GRCm39)	N47S	probably 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
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'- AACAGACATGGTGCACCTAG -3'
(R):5'- AGTTTGCCTGCCTGAAGTGG -3'

Sequencing Primer
(F):5'- CCTAGCAGAGACACGCAGAG -3'
(R):5'- CCTGAAGTGGGAGGCCACAG -3'

Posted On

2016-08-04