Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Il17ra'

660985

Institutional Source

Beutler Lab

Gene Symbol

Il17ra

Ensembl Gene

ENSMUSG00000002897

Gene Name

interleukin 17 receptor A

Synonyms

Il17r, VDw217

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

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

Stock #

R8560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120440143-120460692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120459226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 792 (D792E)

Ref Sequence

ENSEMBL: ENSMUSP00000002976 (fasta)

Gene Model

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

AlphaFold

Q60943

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002976
AA Change: D792E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: D792E

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: 99.5%
20x: 98.6%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,958,374 (GRCm39)	V819A	unknown	Het
Ahi1	T	C	10: 20,835,814 (GRCm39)	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc87	C	T	19: 4,891,901 (GRCm39)	R798W	probably damaging	Het
Cd163	T	C	6: 124,294,360 (GRCm39)	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,543,130 (GRCm39)	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,576,689 (GRCm39)	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,984,249 (GRCm39)	H339Q	probably damaging	Het
Cybc1	G	T	11: 121,115,041 (GRCm39)	A154D	probably damaging	Het
D630045J12Rik	T	A	6: 38,126,649 (GRCm39)	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,603,144 (GRCm39)	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,533,898 (GRCm39)		probably null	Het
Depdc1a	A	G	3: 159,219,912 (GRCm39)	K139E	probably damaging	Het
Dock6	T	C	9: 21,714,132 (GRCm39)	K1874R	probably benign	Het
Dst	A	G	1: 34,307,970 (GRCm39)	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,202,375 (GRCm39)	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,457,865 (GRCm39)	I242L	probably benign	Het
Foxo3	G	A	10: 42,151,278 (GRCm39)	T51M	possibly damaging	Het
Gcfc2	T	C	6: 81,900,863 (GRCm39)	V59A	possibly damaging	Het
Gm14410	C	A	2: 176,885,445 (GRCm39)	C273F	probably damaging	Het
Gucy1b1	G	T	3: 81,942,685 (GRCm39)	P486T	probably damaging	Het
Hydin	A	G	8: 111,265,106 (GRCm39)	N2763S	probably benign	Het
Ifna2	C	A	4: 88,601,502 (GRCm39)	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,115,651 (GRCm39)	N48D	probably benign	Het
Kcnh5	G	T	12: 75,023,379 (GRCm39)	A563E	probably damaging	Het
Klra4	C	A	6: 130,042,235 (GRCm39)	V11L	probably benign	Het
Krt13	T	C	11: 100,009,676 (GRCm39)	E368G	possibly damaging	Het
Lrpprc	T	A	17: 85,047,495 (GRCm39)		probably benign	Het
Mal2	T	C	15: 54,461,826 (GRCm39)	I107T	probably benign	Het
Mc4r	T	C	18: 66,992,166 (GRCm39)	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830 (GRCm39)	V4022E	probably benign	Het
Med12l	A	G	3: 58,945,026 (GRCm39)	N84D	probably damaging	Het
Mx1	T	G	16: 97,253,987 (GRCm39)	T298P	probably damaging	Het
Myh7	T	C	14: 55,213,405 (GRCm39)	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,465,124 (GRCm39)	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,274,316 (GRCm39)	N242K	probably benign	Het
Nsun5	A	G	5: 135,404,743 (GRCm39)	T435A	probably benign	Het
Or14j4	C	T	17: 37,920,949 (GRCm39)	S231N	possibly damaging	Het
Or4q3	T	A	14: 50,583,794 (GRCm39)	D4V	probably benign	Het
Or5b109	T	C	19: 13,211,656 (GRCm39)	L14P	possibly damaging	Het
Pcdhb17	C	T	18: 37,619,206 (GRCm39)	T332M	possibly damaging	Het
Pi4k2a	C	T	19: 42,089,151 (GRCm39)	Q171*	probably null	Het
Plb1	T	C	5: 32,460,023 (GRCm39)	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 25,071,063 (GRCm39)		probably benign	Het
Prlhr	A	G	19: 60,456,635 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,382,600 (GRCm39)	C435*	probably null	Het
Rnf183	T	A	4: 62,346,735 (GRCm39)	N21I	probably damaging	Het
Rnf41	T	A	10: 128,274,222 (GRCm39)	C291*	probably null	Het
Shd	T	C	17: 56,278,616 (GRCm39)	S60P	probably benign	Het
Slc16a5	A	G	11: 115,360,545 (GRCm39)	T243A	probably benign	Het
Slc33a1	A	T	3: 63,850,773 (GRCm39)	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,244,083 (GRCm39)	M682R	possibly damaging	Het
Sphk2	A	T	7: 45,361,514 (GRCm39)	N245K	probably damaging	Het
Stx7	T	C	10: 24,057,454 (GRCm39)	I160T	possibly damaging	Het
Thbs4	T	C	13: 92,891,608 (GRCm39)	I836V	probably damaging	Het
Tmc5	A	T	7: 118,268,514 (GRCm39)	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,729,303 (GRCm39)	W94R	probably damaging	Het
Trmt44	T	C	5: 35,715,295 (GRCm39)	I673V	probably benign	Het
Ttn	T	C	2: 76,571,615 (GRCm39)	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,336,260 (GRCm39)	G591R		Het
Zfp236	G	A	18: 82,664,340 (GRCm39)	R482W	probably damaging	Het
Zfp51	T	A	17: 21,685,635 (GRCm39)	M750K	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
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'- CCCAATGATGTCACCTGACC -3'
(R):5'- CCTAGGAGGGATTCTGCTCTTC -3'

Sequencing Primer
(F):5'- TGACCACCTCCAAGGCGATG -3'
(R):5'- TGGCTCCAAGCTGTTCCAG -3'

Posted On

2021-03-08