Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Il17rc'

617944

Institutional Source

Beutler Lab

Gene Symbol

Il17rc

Ensembl Gene

ENSMUSG00000030281

Gene Name

interleukin 17 receptor C

Synonyms

1110025H02Rik, Il17rl, IL17-RL

MMRRC Submission

067469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113448416-113460124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113459782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 576 (D576G)

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: D576G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281
AA Change: D576G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,888,924 (GRCm39)		probably null	Het
Arhgdib	A	G	6: 136,901,274 (GRCm39)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,277,594 (GRCm39)	S354A	probably benign	Het
Cacng6	T	C	7: 3,473,401 (GRCm39)	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,784,741 (GRCm39)	V7A	unknown	Het
Cdc40	T	A	10: 40,728,512 (GRCm39)	E157D	probably benign	Het
Defa25	T	A	8: 21,575,253 (GRCm39)	N77K	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	T	C	11: 104,772,295 (GRCm39)	V2659A	possibly damaging	Het
Efcab6	T	C	15: 83,867,699 (GRCm39)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,179,731 (GRCm39)	Y352C	probably damaging	Het
Erc2	A	T	14: 27,733,649 (GRCm39)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,283,052 (GRCm39)	Y74*	probably null	Het
Flg2	T	A	3: 93,127,521 (GRCm39)	S2144R	unknown	Het
Fmo4	G	T	1: 162,626,421 (GRCm39)	S375*	probably null	Het
Fsip2	A	G	2: 82,817,235 (GRCm39)	T4323A	probably benign	Het
Gm16503	A	T	4: 147,625,767 (GRCm39)	H87L	unknown	Het
Hes7	C	T	11: 69,013,591 (GRCm39)	A150V	probably damaging	Het
Hk1	T	A	10: 62,132,478 (GRCm39)	N190I	probably benign	Het
Inhba	T	A	13: 16,200,860 (GRCm39)	S141T	possibly damaging	Het
Itga8	G	T	2: 12,160,297 (GRCm39)	D840E	probably benign	Het
Kazn	T	C	4: 141,881,862 (GRCm39)	E126G		Het
Kcnk13	A	G	12: 99,932,438 (GRCm39)	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,798,054 (GRCm39)		probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,687,374 (GRCm39)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,107,747 (GRCm39)	R585G	probably benign	Het
Ntrk2	T	C	13: 59,022,193 (GRCm39)	I416T	probably benign	Het
Or4c112	A	T	2: 88,853,972 (GRCm39)	I125N	probably damaging	Het
Or52h7	T	A	7: 104,214,316 (GRCm39)	I296N	probably damaging	Het
Or5k14	T	C	16: 58,693,054 (GRCm39)	N153S	probably benign	Het
Or8k33	G	A	2: 86,384,447 (GRCm39)	T7I	probably damaging	Het
P4ha3	A	G	7: 99,941,905 (GRCm39)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,728,442 (GRCm39)	N233S	probably damaging	Het
Pgm2l1	C	A	7: 99,921,625 (GRCm39)	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,376,230 (GRCm39)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,776,964 (GRCm39)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Psmd4	T	C	3: 94,943,203 (GRCm39)	D67G	probably damaging	Het
Ptprt	G	A	2: 161,977,377 (GRCm39)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,321,107 (GRCm39)	C1188*	probably null	Het
Ror2	C	T	13: 53,267,193 (GRCm39)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,441,640 (GRCm39)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,311,517 (GRCm39)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,397,377 (GRCm39)	A340T	probably benign	Het
Smarca5	A	T	8: 81,431,311 (GRCm39)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,314,933 (GRCm39)	M626I	probably benign	Het
Spink5	T	A	18: 44,143,303 (GRCm39)	D753E	probably benign	Het
Taf1d	T	G	9: 15,221,695 (GRCm39)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,060,689 (GRCm39)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,429,141 (GRCm39)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,377,244 (GRCm39)	R70C	probably benign	Het
Ubl7	C	T	9: 57,830,489 (GRCm39)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,614,165 (GRCm39)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 20,013,759 (GRCm39)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,720,408 (GRCm39)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,604,075 (GRCm39)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,568,070 (GRCm39)	I1121N	not run	Het
Zfp235	T	A	7: 23,841,114 (GRCm39)	V511E	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
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
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'- AGGCTCCACTATCCCTGTAG -3'
(R):5'- TTCCGAGCTAGAAGTACAGCTGTC -3'

Sequencing Primer
(F):5'- TTGAGCCAGATGCCACTG -3'
(R):5'- CTAGAAGTACAGCTGTCCAGGGC -3'

Posted On

2020-01-23