Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Il17ra'

41788

Institutional Source

Beutler Lab

Gene Symbol

Il17ra

Ensembl Gene

ENSMUSG00000002897

Gene Name

interleukin 17 receptor A

Synonyms

Il17r, VDw217

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120440143-120460692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120458767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 639 (D639E)

Ref Sequence

ENSEMBL: ENSMUSP00000002976 (fasta)

Gene Model

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

AlphaFold

Q60943

Predicted Effect

probably benign
Transcript: ENSMUST00000002976
AA Change: D639E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: D639E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccn4	A	G	15: 66,789,227 (GRCm39)	I238V	probably benign	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Nipal3	A	G	4: 135,174,683 (GRCm39)	V356A	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Psg22	A	C	7: 18,453,589 (GRCm39)	S95R	probably damaging	Het
Ptk6	T	C	2: 180,837,732 (GRCm39)	T396A	probably benign	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,694,197 (GRCm39)	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,152,086 (GRCm39)	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	probably damaging	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
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'- TTAGGTTCCAGGAGTGGCAAACCC -3'
(R):5'- AGTGGCAAGTCATCTGAGTCCACG -3'

Sequencing Primer
(F):5'- AGTGGCAAACCCAGTGC -3'
(R):5'- AGGCAAAGGATGCTGTTCCTC -3'

Posted On

2013-05-23