Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Il17ra'

36340

Institutional Source

Beutler Lab

Gene Symbol

Il17ra

Ensembl Gene

ENSMUSG00000002897

Gene Name

interleukin 17 receptor A

Synonyms

Il17r, VDw217

MMRRC Submission

038571-MU

Accession Numbers

Essential gene?

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

Stock #

R0365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120440143-120460692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120455410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 340 (V340M)

Ref Sequence

ENSEMBL: ENSMUSP00000002976 (fasta)

Gene Model

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

AlphaFold

Q60943

Predicted Effect

probably benign
Transcript: ENSMUST00000002976
AA Change: V340M

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: V340M

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: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,088 (GRCm39)	M173K	probably benign	Het
Abcb1b	T	A	5: 8,856,009 (GRCm39)	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,566,177 (GRCm39)	Y290C	probably damaging	Het
Alg12	A	C	15: 88,700,352 (GRCm39)	I28R	possibly damaging	Het
Amer2	A	T	14: 60,616,984 (GRCm39)	D393V	probably damaging	Het
Anxa5	A	T	3: 36,511,618 (GRCm39)	V153D	probably damaging	Het
Arl5a	T	C	2: 52,306,141 (GRCm39)	M64V	probably benign	Het
Astn1	T	C	1: 158,516,118 (GRCm39)	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,297,713 (GRCm39)	S424P	possibly damaging	Het
AW551984	A	T	9: 39,510,617 (GRCm39)	S239R	probably benign	Het
Baz1b	T	C	5: 135,268,985 (GRCm39)	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 123,361,799 (GRCm39)	L408I	probably benign	Het
Cdc27	A	T	11: 104,419,250 (GRCm39)	N227K	possibly damaging	Het
Cdh20	A	T	1: 110,036,486 (GRCm39)	Q555H	probably damaging	Het
Cdh23	T	A	10: 60,215,094 (GRCm39)	N1412I	probably damaging	Het
Cdhr2	T	C	13: 54,866,105 (GRCm39)	S302P	probably benign	Het
Cep350	C	A	1: 155,782,317 (GRCm39)	E1563D	probably benign	Het
Cfap221	T	A	1: 119,912,753 (GRCm39)	E107V	probably benign	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Coro6	A	T	11: 77,354,916 (GRCm39)	I60F	probably benign	Het
Dennd2b	A	T	7: 109,138,156 (GRCm39)	V753E	probably damaging	Het
Dock10	G	T	1: 80,573,400 (GRCm39)	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,345,119 (GRCm39)	N286K	probably damaging	Het
Fam83g	G	T	11: 61,593,935 (GRCm39)	E490*	probably null	Het
Gnb1l	T	C	16: 18,371,211 (GRCm39)	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,885,747 (GRCm39)	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,470,276 (GRCm39)	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731 (GRCm39)	H76Q	probably benign	Het
Klhl25	T	C	7: 75,516,264 (GRCm39)	L390P	probably damaging	Het
Klhl26	T	C	8: 70,904,479 (GRCm39)	D443G	probably damaging	Het
Lama3	A	T	18: 12,640,064 (GRCm39)	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,599,984 (GRCm39)	A385V	probably benign	Het
Maea	C	T	5: 33,517,787 (GRCm39)	A109V	probably benign	Het
Mtor	A	T	4: 148,570,507 (GRCm39)	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,243,977 (GRCm39)	D202G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Nup155	C	T	15: 8,161,027 (GRCm39)	R571W	probably damaging	Het
Nup160	T	A	2: 90,539,188 (GRCm39)	M789K	probably benign	Het
Odad2	T	A	18: 7,217,800 (GRCm39)	H638L	probably benign	Het
Or5an1c	A	G	19: 12,218,440 (GRCm39)	F195S	probably benign	Het
Or5p50	A	T	7: 107,422,124 (GRCm39)	L184*	probably null	Het
Or8d2b	A	T	9: 38,788,481 (GRCm39)	H3L	probably benign	Het
Pgpep1	G	T	8: 71,105,174 (GRCm39)		probably null	Het
Pkd1l2	C	T	8: 117,748,589 (GRCm39)	V1861M	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plin4	G	T	17: 56,411,667 (GRCm39)	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902 (GRCm39)	D16G	possibly damaging	Het
Pramel22	G	T	4: 143,382,071 (GRCm39)	Y208*	probably null	Het
Prdm16	A	T	4: 154,426,513 (GRCm39)	I424N	probably damaging	Het
Psen2	T	A	1: 180,056,410 (GRCm39)	I396F	probably damaging	Het
Psip1	C	T	4: 83,403,949 (GRCm39)		probably null	Het
Ptprd	G	A	4: 76,055,083 (GRCm39)	T215I	probably damaging	Het
Rec114	A	G	9: 58,648,822 (GRCm39)	S2P	probably benign	Het
Rexo1	A	G	10: 80,378,410 (GRCm39)	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,527,118 (GRCm39)	M1436T	probably benign	Het
Rnf213	T	A	11: 119,316,937 (GRCm39)	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,296,069 (GRCm39)	G83S	probably damaging	Het
Ryr2	T	G	13: 11,683,725 (GRCm39)	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,003,401 (GRCm39)	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,762,828 (GRCm39)		probably null	Het
Slc5a9	A	T	4: 111,749,033 (GRCm39)	Y98*	probably null	Het
Smc6	T	C	12: 11,333,175 (GRCm39)		probably null	Het
Sptb	G	T	12: 76,647,157 (GRCm39)	F1959L	probably benign	Het
Srgap1	T	A	10: 121,621,610 (GRCm39)	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,931,466 (GRCm39)	C224*	probably null	Het
Ston2	A	T	12: 91,614,634 (GRCm39)	H591Q	probably benign	Het
Tbx3	C	T	5: 119,813,315 (GRCm39)	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,886 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,364,732 (GRCm39)	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Zfpm2	A	G	15: 40,637,462 (GRCm39)	E74G	possibly damaging	Het
Zwint	C	A	10: 72,493,127 (GRCm39)	S223*	probably null	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
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'- AGCCTGGTACAAGCCATAGCTGAC -3'
(R):5'- GGCTGATGCAGGGAAATTCCACAC -3'

Sequencing Primer
(F):5'- ATAGCTGACAGGGCCTGG -3'
(R):5'- agcaaatgccatgcgcc -3'

Posted On

2013-05-09