Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Il9r'

554568

Institutional Source

Beutler Lab

Gene Symbol

Il9r

Ensembl Gene

ENSMUSG00000020279

Gene Name

interleukin 9 receptor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4305001 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

32137541-32150279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32144734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 53 (Q53L)

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: Q48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: Q48L

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 benign
Transcript: ENSMUST00000142396
AA Change: Q53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: Q53L

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: Q48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: Q48L

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: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,086,610 (GRCm39)	N801D	probably benign	Het
Adcy2	T	C	13: 68,826,721 (GRCm39)	K661R	probably benign	Het
Akap1	A	T	11: 88,735,204 (GRCm39)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,373,825 (GRCm39)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,382,022 (GRCm39)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm39)	H340L	probably benign	Het
Cd5	A	G	19: 10,703,750 (GRCm39)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,785,138 (GRCm39)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,504,386 (GRCm39)	I59T	probably damaging	Het
Cutc	G	T	19: 43,756,708 (GRCm39)	A267S	probably damaging	Het
Dmwd	A	G	7: 18,814,643 (GRCm39)	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,042,738 (GRCm39)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,412,508 (GRCm39)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,617,918 (GRCm39)	I260T	probably benign	Het
Drd5	T	C	5: 38,477,927 (GRCm39)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,179,300 (GRCm39)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,383,634 (GRCm39)	E617*	probably null	Het
Dusp15	G	A	2: 152,787,396 (GRCm39)	H72Y	probably benign	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Fbxl13	T	A	5: 21,727,146 (GRCm39)	I584L	probably benign	Het
Gsap	T	C	5: 21,391,407 (GRCm39)	L16P	probably damaging	Het
Hgsnat	C	T	8: 26,435,227 (GRCm39)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,335,147 (GRCm39)	T161A		Het
Hspg2	T	C	4: 137,277,684 (GRCm39)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,355,485 (GRCm39)	P108S	probably benign	Het
Il17ra	A	T	6: 120,458,367 (GRCm39)	Y506F	probably damaging	Het
Irf2bp2	C	T	8: 127,319,398 (GRCm39)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,685,626 (GRCm39)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,305,249 (GRCm39)		probably null	Het
Klrd1	A	G	6: 129,573,670 (GRCm39)	T120A	unknown	Het
Lfng	A	G	5: 140,598,283 (GRCm39)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,802,095 (GRCm39)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,217,211 (GRCm39)	P342L	probably damaging	Het
Lum	A	C	10: 97,404,738 (GRCm39)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Nlrc4	T	C	17: 74,753,304 (GRCm39)	T360A	probably damaging	Het
Or4c1	T	C	2: 89,133,727 (GRCm39)	I70V	probably benign	Het
Or7g32	T	C	9: 19,389,357 (GRCm39)	Y63C	probably damaging	Het
Pakap	C	A	4: 57,638,029 (GRCm39)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,438,036 (GRCm39)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,484,901 (GRCm39)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,149,323 (GRCm39)	N349T	probably benign	Het
Poc1a	A	G	9: 106,227,028 (GRCm39)	Q420R		Het
Prl7d1	A	T	13: 27,898,320 (GRCm39)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,662,061 (GRCm39)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,570,203 (GRCm39)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,001,970 (GRCm39)	V166A		Het
Robo4	T	C	9: 37,322,687 (GRCm39)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,118,326 (GRCm39)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,345 (GRCm39)	T553A	probably benign	Het
Serpina12	A	G	12: 104,001,976 (GRCm39)	Y247H	probably damaging	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Ston2	G	T	12: 91,615,276 (GRCm39)	D377E	possibly damaging	Het
Syne1	A	G	10: 5,283,023 (GRCm39)	S1557P	probably damaging	Het
Syt6	C	T	3: 103,482,769 (GRCm39)	R26W	possibly damaging	Het
Tep1	C	T	14: 51,066,684 (GRCm39)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,328,771 (GRCm39)	T637A	possibly damaging	Het
Tnn	A	T	1: 159,913,647 (GRCm39)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,315,888 (GRCm39)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,579,862 (GRCm39)	V31A	possibly damaging	Het
Trpc7	G	T	13: 57,035,321 (GRCm39)	T204K	probably benign	Het
Urgcp	T	C	11: 5,667,996 (GRCm39)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 11,994,590 (GRCm39)	I6K	probably benign	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
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
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'- TCACCTGGTTACTGGGAAGG -3'
(R):5'- ACCCAGCAAAGCTCTTAGGTC -3'

Sequencing Primer
(F):5'- AAGGCCATGTGTTAGTGGCAC -3'
(R):5'- CAGCAAAGCTCTTAGGTCTGACTG -3'

Posted On

2019-06-07