Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Il17ra'

682010

Institutional Source

Beutler Lab

Gene Symbol

Il17ra

Ensembl Gene

ENSMUSG00000002897

Gene Name

interleukin 17 receptor A

Synonyms

Il17r, VDw217

MMRRC Submission

068792-MU

Accession Numbers

Essential gene?

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

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120440143-120460692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120458465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 539 (I539F)

Ref Sequence

ENSEMBL: ENSMUSP00000002976 (fasta)

Gene Model

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

AlphaFold

Q60943

Predicted Effect

probably damaging
Transcript: ENSMUST00000002976
AA Change: I539F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: I539F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 78,750,713 (GRCm39)	T1828I	probably benign	Het
Acsf2	A	G	11: 94,461,211 (GRCm39)	S322P	probably benign	Het
Acss2	T	A	2: 155,391,438 (GRCm39)	I170N	probably damaging	Het
Adam22	G	A	5: 8,142,343 (GRCm39)	T814I	probably damaging	Het
Agrn	G	T	4: 156,250,995 (GRCm39)	D1914E	probably damaging	Het
Akap6	T	C	12: 53,187,127 (GRCm39)	S1514P	probably benign	Het
Akap9	T	C	5: 3,998,805 (GRCm39)	L58P	possibly damaging	Het
Apof	A	G	10: 128,105,712 (GRCm39)	I289V	probably benign	Het
Arhgap35	G	A	7: 16,348,404 (GRCm39)		probably benign	Het
Atad3a	A	C	4: 155,838,054 (GRCm39)	F239L	probably damaging	Het
Atf6	T	C	1: 170,621,576 (GRCm39)	T482A	probably damaging	Het
Atg9b	T	C	5: 24,591,850 (GRCm39)		probably benign	Het
Atp8b4	T	A	2: 126,167,327 (GRCm39)		probably null	Het
B4galt5	T	C	2: 167,143,260 (GRCm39)	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,749,689 (GRCm39)	L495P	probably damaging	Het
Bcl6	T	C	16: 23,793,716 (GRCm39)	E77G	probably damaging	Het
Bst1	C	A	5: 43,982,716 (GRCm39)	S187*	probably null	Het
Car4	A	G	11: 84,855,377 (GRCm39)	N170S	probably null	Het
Cdk14	A	T	5: 5,277,182 (GRCm39)	V131E	probably damaging	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,121 (GRCm39)	R99G	probably damaging	Het
Col9a1	G	A	1: 24,276,300 (GRCm39)	G736D	probably damaging	Het
Copa	T	A	1: 171,937,480 (GRCm39)	V477D	possibly damaging	Het
Coq9	G	A	8: 95,576,886 (GRCm39)	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,165 (GRCm39)	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,798,095 (GRCm39)	N721S	probably benign	Het
Dnhd1	A	T	7: 105,341,852 (GRCm39)	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,437,398 (GRCm39)	E247*	probably null	Het
Elovl7	A	T	13: 108,393,320 (GRCm39)	I18F	probably benign	Het
Eml5	T	C	12: 98,818,952 (GRCm39)	K785E	possibly damaging	Het
Faap100	C	A	11: 120,268,185 (GRCm39)	C196F	probably damaging	Het
Fat2	G	A	11: 55,173,729 (GRCm39)	T2328M	probably damaging	Het
Gcnt2	T	A	13: 41,041,204 (GRCm39)	I121N	probably benign	Het
Gm12253	A	G	11: 58,327,605 (GRCm39)	K152E	probably benign	Het
Gm16440	T	A	14: 17,574,527 (GRCm39)	R167*	probably null	Het
Gm43302	T	A	5: 105,425,602 (GRCm39)	I276F	possibly damaging	Het
Gys2	A	G	6: 142,374,267 (GRCm39)	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,772,245 (GRCm39)	N168Y	probably benign	Het
Hpca	C	A	4: 129,012,287 (GRCm39)	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,121,109 (GRCm39)	F13L	probably benign	Het
Kdm4a	A	G	4: 118,019,013 (GRCm39)	V401A	possibly damaging	Het
Krt86	A	T	15: 101,375,157 (GRCm39)	T351S	probably benign	Het
Lig4	A	G	8: 10,021,378 (GRCm39)	C801R	probably benign	Het
Lrrn4	G	A	2: 132,714,011 (GRCm39)	P312S	probably damaging	Het
Macf1	T	A	4: 123,368,641 (GRCm39)	H2040L	probably benign	Het
Madcam1	A	G	10: 79,502,466 (GRCm39)	K317E	possibly damaging	Het
Maip1	T	C	1: 57,450,961 (GRCm39)	I201T	probably damaging	Het
Map4k4	C	A	1: 40,039,840 (GRCm39)	D513E	probably benign	Het
Mideas	T	A	12: 84,209,102 (GRCm39)	I667L	probably benign	Het
Mpped1	G	A	15: 83,740,469 (GRCm39)	G137R	probably damaging	Het
Mrgprd	T	G	7: 144,875,923 (GRCm39)	F265V	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Mylk	A	G	16: 34,791,779 (GRCm39)	T1484A	probably benign	Het
Nbas	C	T	12: 13,482,923 (GRCm39)	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,633,708 (GRCm39)	S405T	probably benign	Het
Neil2	A	G	14: 63,429,227 (GRCm39)	V22A	probably damaging	Het
Nrip1	G	C	16: 76,089,193 (GRCm39)	A788G	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or10ab4	A	G	7: 107,655,160 (GRCm39)	T324A	probably benign	Het
Or10d4c	C	T	9: 39,558,496 (GRCm39)	T158I	probably damaging	Het
Or2b7	T	C	13: 21,740,169 (GRCm39)	I8V	probably benign	Het
Or2bd2	G	A	7: 6,442,020 (GRCm39)		probably benign	Het
Or2r2	T	A	6: 42,463,830 (GRCm39)	Q99L	probably damaging	Het
Or6c215	C	T	10: 129,638,222 (GRCm39)	M57I	possibly damaging	Het
Orc2	T	C	1: 58,505,221 (GRCm39)	N478S	probably damaging	Het
Oxct1	A	G	15: 4,064,806 (GRCm39)	E48G	possibly damaging	Het
Pcca	A	G	14: 122,975,324 (GRCm39)	I28V	probably benign	Het
Pcdha8	T	C	18: 37,126,241 (GRCm39)	V241A	probably benign	Het
Pgap6	T	A	17: 26,339,374 (GRCm39)	S563T	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkd2	T	A	5: 104,631,090 (GRCm39)	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,746,448 (GRCm39)	V430I	probably benign	Het
Prkd3	A	G	17: 79,278,883 (GRCm39)	M401T	probably damaging	Het
Rgmb	A	G	17: 16,027,748 (GRCm39)	C324R	probably benign	Het
Rsph6a	A	T	7: 18,799,364 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,636,209 (GRCm39)	M264K	probably benign	Het
Serhl	T	A	15: 82,985,899 (GRCm39)	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,902,159 (GRCm39)	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,587,030 (GRCm39)	Q408*	probably null	Het
Slc35b2	A	G	17: 45,877,673 (GRCm39)	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,765,242 (GRCm39)	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,351,660 (GRCm39)	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,737,810 (GRCm39)	C742*	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tor1aip1	T	A	1: 155,909,582 (GRCm39)		probably benign	Het
Trim9	T	C	12: 70,393,665 (GRCm39)	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 106,570,813 (GRCm39)	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,775,196 (GRCm39)	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,367 (GRCm39)	L881P	probably damaging	Het
Upp2	C	T	2: 58,457,454 (GRCm39)		probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn2r116	A	T	17: 23,605,736 (GRCm39)	D216V	probably damaging	Het
Vps52	A	G	17: 34,177,049 (GRCm39)	Q96R	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
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
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'- ACCTTTTCACTGCAGCCATG -3'
(R):5'- AGTGGGTCTTCAAACACTTCTTC -3'

Sequencing Primer
(F):5'- TTTCACTGCAGCCATGAACATG -3'
(R):5'- CTTCTTCATCCAGGGAGGGAAGATC -3'

Posted On

2021-08-31