Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Il17ra'

102562

Institutional Source

Beutler Lab

Gene Symbol

Il17ra

Ensembl Gene

ENSMUSG00000002897

Gene Name

interleukin 17 receptor A

Synonyms

Il17r, VDw217

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120440143-120460692 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 120449086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002976]

AlphaFold

Q60943

Predicted Effect

probably benign
Transcript: ENSMUST00000002976

SMART Domains

Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:IL17R_fnIII_D1	48	198	1.3e-70	PFAM
Pfam:IL17R_fnIII_D2	199	303	9.6e-53	PFAM
transmembrane domain	321	343	N/A	INTRINSIC
Pfam:SEFIR	380	539	1.5e-51	PFAM
low complexity region	747	765	N/A	INTRINSIC
low complexity region	801	830	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204239

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Acr	T	A	15: 89,458,535 (GRCm39)	H405Q	probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atl3	T	G	19: 7,506,388 (GRCm39)	I306S	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Dym	T	C	18: 75,258,610 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
Or8h7	A	G	2: 86,720,835 (GRCm39)	I228T	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rdh10	T	C	1: 16,178,260 (GRCm39)		probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	probably benign	Het

Other mutations in Il17ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Il17ra	APN	6	120,458,426 (GRCm39)	missense	probably damaging	1.00
IGL01413:Il17ra	APN	6	120,452,542 (GRCm39)	missense	probably benign	0.00
IGL01418:Il17ra	APN	6	120,452,542 (GRCm39)	missense	probably benign	0.00
IGL03215:Il17ra	APN	6	120,449,075 (GRCm39)	missense	probably damaging	1.00
IGL03047:Il17ra	UTSW	6	120,458,187 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Il17ra	UTSW	6	120,458,367 (GRCm39)	missense	probably damaging	1.00
R0042:Il17ra	UTSW	6	120,449,086 (GRCm39)	splice site	probably benign
R0365:Il17ra	UTSW	6	120,455,410 (GRCm39)	missense	probably benign	0.03
R0391:Il17ra	UTSW	6	120,453,940 (GRCm39)	splice site	probably benign
R0470:Il17ra	UTSW	6	120,458,767 (GRCm39)	missense	probably benign	0.01
R0599:Il17ra	UTSW	6	120,458,466 (GRCm39)	missense	probably damaging	1.00
R1525:Il17ra	UTSW	6	120,450,751 (GRCm39)	missense	probably damaging	0.98
R1900:Il17ra	UTSW	6	120,454,355 (GRCm39)	critical splice acceptor site	probably null
R1972:Il17ra	UTSW	6	120,459,177 (GRCm39)	missense	probably benign	0.01
R4192:Il17ra	UTSW	6	120,458,472 (GRCm39)	missense	probably damaging	1.00
R4923:Il17ra	UTSW	6	120,454,406 (GRCm39)	missense	possibly damaging	0.94
R5009:Il17ra	UTSW	6	120,459,168 (GRCm39)	missense	probably benign	0.00
R5133:Il17ra	UTSW	6	120,458,514 (GRCm39)	missense	possibly damaging	0.81
R5411:Il17ra	UTSW	6	120,458,403 (GRCm39)	missense	probably damaging	1.00
R5548:Il17ra	UTSW	6	120,455,434 (GRCm39)	missense	probably benign	0.23
R6137:Il17ra	UTSW	6	120,452,543 (GRCm39)	missense	probably benign	0.23
R6190:Il17ra	UTSW	6	120,452,234 (GRCm39)	missense	probably damaging	1.00
R7202:Il17ra	UTSW	6	120,452,572 (GRCm39)	missense	probably benign	0.01
R7300:Il17ra	UTSW	6	120,459,063 (GRCm39)	missense	probably benign	0.00
R8130:Il17ra	UTSW	6	120,455,416 (GRCm39)	missense	probably benign	0.01
R8152:Il17ra	UTSW	6	120,459,063 (GRCm39)	missense	probably benign	0.00
R8213:Il17ra	UTSW	6	120,449,995 (GRCm39)	missense	probably benign	0.39
R8525:Il17ra	UTSW	6	120,451,298 (GRCm39)	nonsense	probably null
R8560:Il17ra	UTSW	6	120,459,226 (GRCm39)	missense	possibly damaging	0.78
R8675:Il17ra	UTSW	6	120,458,949 (GRCm39)	missense	probably benign	0.05
R8754:Il17ra	UTSW	6	120,458,417 (GRCm39)	missense	probably benign	0.09
R8956:Il17ra	UTSW	6	120,458,465 (GRCm39)	missense	probably damaging	1.00
R9419:Il17ra	UTSW	6	120,458,255 (GRCm39)	missense	possibly damaging	0.63
R9478:Il17ra	UTSW	6	120,451,336 (GRCm39)	missense	possibly damaging	0.83
R9742:Il17ra	UTSW	6	120,458,466 (GRCm39)	missense	probably damaging	1.00
R9790:Il17ra	UTSW	6	120,459,240 (GRCm39)	missense	probably damaging	1.00
R9791:Il17ra	UTSW	6	120,459,240 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCACCTCCTCTGCTGGACAAAG -3'
(R):5'- ACCACTGATGCTGTGACAAGCTG -3'

Sequencing Primer
(F):5'- TTGACTACTTGGCAGCAGAGC -3'
(R):5'- CAGGCATAGTTAGATGCACTAGG -3'

Posted On

2014-01-15