Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Il17rc'

186303

Institutional Source

Beutler Lab

Gene Symbol

Il17rc

Ensembl Gene

ENSMUSG00000030281

Gene Name

interleukin 17 receptor C

Synonyms

1110025H02Rik, Il17rl, IL17-RL

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113448416-113460124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113455950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 265 (D265V)

Ref Sequence

ENSEMBL: ENSMUSP00000055343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000058300]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032422

SMART Domains

Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:DUF3456	45	103	1.7e-9	PFAM
EGF	154	193	2.11e1	SMART
FU	208	255	1.66e-1	SMART
EGF	213	244	2.2e1	SMART
EGF_like	245	290	4.26e-3	SMART
FU	268	315	4.46e-2	SMART
EGF_CA	305	344	1.1e-7	SMART
transmembrane domain	363	382	N/A	INTRINSIC
transmembrane domain	387	406	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058300
AA Change: D265V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281
AA Change: D265V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:IL17_R_N	71	190	2.8e-45	PFAM
Pfam:IL17_R_N	189	432	1.3e-93	PFAM
transmembrane domain	441	460	N/A	INTRINSIC
Pfam:SEFIR	473	623	7.7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203668

Predicted Effect

probably benign
Transcript: ENSMUST00000204447

Predicted Effect

probably benign
Transcript: ENSMUST00000204632

Predicted Effect

unknown
Transcript: ENSMUST00000205208
AA Change: D169V

Meta Mutation Damage Score

0.2742

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit increased interleukin-17 secretion, reduced chemokine expression, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,762,845 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,433,924 (GRCm39)		probably benign	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,642,150 (GRCm39)		probably benign	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Ceacam23	T	G	7: 17,649,516 (GRCm39)		noncoding transcript	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Dnah1	T	C	14: 30,990,738 (GRCm39)		probably benign	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam135b	A	G	15: 71,493,845 (GRCm39)		probably benign	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Glis3	G	T	19: 28,239,918 (GRCm39)		probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Hycc1	A	G	5: 24,190,730 (GRCm39)		probably benign	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Ints10	G	A	8: 69,260,296 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Kcng3	A	T	17: 83,938,492 (GRCm39)	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204 (GRCm39)		probably benign	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,509,125 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Sytl3	A	G	17: 6,973,430 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 84,959,560 (GRCm39)		noncoding transcript	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Il17rc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Il17rc	APN	6	113,451,132 (GRCm39)	missense	probably damaging	0.96
IGL03192:Il17rc	APN	6	113,449,846 (GRCm39)	missense	probably damaging	1.00
R1462:Il17rc	UTSW	6	113,455,950 (GRCm39)	missense	probably damaging	1.00
R4075:Il17rc	UTSW	6	113,458,158 (GRCm39)	missense	possibly damaging	0.82
R5025:Il17rc	UTSW	6	113,449,327 (GRCm39)	missense	possibly damaging	0.62
R5052:Il17rc	UTSW	6	113,449,284 (GRCm39)	missense	probably damaging	1.00
R5148:Il17rc	UTSW	6	113,459,958 (GRCm39)	missense	probably benign	0.19
R5302:Il17rc	UTSW	6	113,459,997 (GRCm39)	missense	possibly damaging	0.71
R5977:Il17rc	UTSW	6	113,459,692 (GRCm39)	missense	probably damaging	0.98
R6275:Il17rc	UTSW	6	113,457,308 (GRCm39)	missense	probably benign	0.00
R7010:Il17rc	UTSW	6	113,456,249 (GRCm39)	missense	possibly damaging	0.86
R8031:Il17rc	UTSW	6	113,459,782 (GRCm39)	missense	probably damaging	1.00
R8138:Il17rc	UTSW	6	113,459,500 (GRCm39)	missense	probably damaging	1.00
R8160:Il17rc	UTSW	6	113,453,489 (GRCm39)	missense	possibly damaging	0.94
R8209:Il17rc	UTSW	6	113,449,771 (GRCm39)	missense	probably benign	0.01
R8890:Il17rc	UTSW	6	113,456,031 (GRCm39)	missense	probably damaging	1.00
R9310:Il17rc	UTSW	6	113,451,210 (GRCm39)	missense	probably damaging	1.00
R9347:Il17rc	UTSW	6	113,457,780 (GRCm39)	critical splice donor site	probably null
R9350:Il17rc	UTSW	6	113,456,048 (GRCm39)	missense	probably damaging	0.96
R9369:Il17rc	UTSW	6	113,449,641 (GRCm39)	missense	probably benign
R9495:Il17rc	UTSW	6	113,449,741 (GRCm39)	missense	probably damaging	1.00
R9514:Il17rc	UTSW	6	113,449,741 (GRCm39)	missense	probably damaging	1.00
R9794:Il17rc	UTSW	6	113,453,726 (GRCm39)	missense	probably benign	0.14
Z1176:Il17rc	UTSW	6	113,453,756 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGTCTGATGTGCAATCATGGATG -3'
(R):5'- CCAACTGGAAATCTTGTGGCTCCTG -3'

Sequencing Primer
(F):5'- GACTCTGAGAGGGTCGAATTCT -3'
(R):5'- CACTTACATTCACAGTGGCG -3'

Posted On

2014-05-09