Mutagenetix > Incidental Mutation

Incidental Mutation 'R8890:Il17rc'

677628

Institutional Source

Beutler Lab

Gene Symbol

Il17rc

Ensembl Gene

ENSMUSG00000030281

Gene Name

interleukin 17 receptor C

Synonyms

1110025H02Rik, Il17rl, IL17-RL

MMRRC Submission

068694-MU

Accession Numbers

Essential gene?

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

Stock #

R8890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113448416-113460124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113456031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 292 (C292F)

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: C292F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281
AA Change: C292F

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

probably benign
Transcript: ENSMUST00000204447

Predicted Effect

probably benign
Transcript: ENSMUST00000204632

Predicted Effect

Meta Mutation Damage Score

0.9276

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Acrv1	A	T	9: 36,604,608 (GRCm39)	M1L	probably benign	Het
Adam23	G	A	1: 63,624,524 (GRCm39)	G784D	possibly damaging	Het
Astl	A	T	2: 127,198,479 (GRCm39)	M365L	probably benign	Het
C1ql3	T	A	2: 13,015,184 (GRCm39)	T159S		Het
Ccser2	T	G	14: 36,601,352 (GRCm39)	D344A	probably damaging	Het
Cox11	A	C	11: 90,534,599 (GRCm39)	I214L	probably damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Ctsq	T	A	13: 61,185,502 (GRCm39)	Y213F	probably damaging	Het
Cyp2j5	T	A	4: 96,522,555 (GRCm39)	I340F	probably damaging	Het
Efcab6	A	G	15: 83,829,349 (GRCm39)	F664L	probably damaging	Het
Eif3j2	A	G	18: 43,610,276 (GRCm39)	L179P	probably benign	Het
Fhad1	A	T	4: 141,656,902 (GRCm39)	M84K	probably benign	Het
Gabbr1	T	C	17: 37,358,436 (GRCm39)	V58A	probably benign	Het
Gabra1	T	A	11: 42,024,553 (GRCm39)	Y374F	probably benign	Het
Glt28d2	A	T	3: 85,779,359 (GRCm39)	V38D	possibly damaging	Het
Grid2	A	T	6: 63,233,923 (GRCm39)	H28L	probably benign	Het
Hat1	G	A	2: 71,269,137 (GRCm39)	R355K	probably damaging	Het
Hivep3	T	C	4: 119,953,657 (GRCm39)	Y658H	possibly damaging	Het
Hsh2d	T	C	8: 72,951,690 (GRCm39)	F108S	probably damaging	Het
Il31ra	T	C	13: 112,660,861 (GRCm39)	D576G	possibly damaging	Het
Iqsec3	T	C	6: 121,389,515 (GRCm39)	D652G	probably damaging	Het
Kdm5a	T	A	6: 120,366,624 (GRCm39)	S420R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,888 (GRCm39)	T599A	probably benign	Het
Lrrc8c	A	T	5: 105,754,954 (GRCm39)	E243V	probably damaging	Het
Mecom	A	G	3: 30,006,882 (GRCm39)	S714P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mipep	G	T	14: 61,109,506 (GRCm39)	A628S	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mterf3	C	T	13: 67,064,676 (GRCm39)		probably null	Het
Myh15	C	A	16: 48,959,130 (GRCm39)	L1001I	probably damaging	Het
Myom3	G	A	4: 135,541,565 (GRCm39)	M1385I	probably benign	Het
Nbea	T	C	3: 55,926,784 (GRCm39)		probably benign	Het
Nphs1	C	T	7: 30,162,080 (GRCm39)	R270W	probably damaging	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or10ag60	A	T	2: 87,438,412 (GRCm39)	I227F	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or52ae9	G	T	7: 103,389,675 (GRCm39)	F257L	probably damaging	Het
Or52r1	A	T	7: 102,536,699 (GRCm39)	Y220*	probably null	Het
Pcdh7	A	T	5: 57,876,717 (GRCm39)	I91F	probably damaging	Het
Pheta2	G	T	15: 82,227,618 (GRCm39)	V46F	probably damaging	Het
Piezo1	T	C	8: 123,216,330 (GRCm39)	R1394G		Het
Pramel28	G	T	4: 143,691,494 (GRCm39)	Q410K	probably benign	Het
Psmd1	G	A	1: 86,012,914 (GRCm39)	R361Q	probably damaging	Het
Ralb	G	A	1: 119,411,246 (GRCm39)	T31M	probably damaging	Het
Rassf4	T	A	6: 116,617,305 (GRCm39)	K233N	probably damaging	Het
Rif1	T	C	2: 51,988,875 (GRCm39)	F756S	probably damaging	Het
Rpgrip1	G	A	14: 52,382,501 (GRCm39)	D556N	possibly damaging	Het
Scai	T	C	2: 39,040,400 (GRCm39)		probably benign	Het
Scfd1	A	G	12: 51,474,678 (GRCm39)	T478A	probably benign	Het
Spag17	T	A	3: 99,911,994 (GRCm39)	I288N	possibly damaging	Het
Sult1e1	C	T	5: 87,727,719 (GRCm39)	V188I	probably benign	Het
Tmco1	A	G	1: 167,143,814 (GRCm39)	R82G		Het
Tmem109	T	C	19: 10,849,235 (GRCm39)	S207G	probably benign	Het
Vmn2r115	A	G	17: 23,578,497 (GRCm39)	T657A	probably damaging	Het
Whamm	A	G	7: 81,243,640 (GRCm39)	T621A	probably benign	Het
Zbtb40	A	G	4: 136,725,897 (GRCm39)	L554P	probably damaging	Het
Zfp131	A	T	13: 120,244,338 (GRCm39)	M114K	probably damaging	Het
Zfp532	C	T	18: 65,757,404 (GRCm39)	P446S	probably damaging	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
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
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'- CTCTGAGAGGGTCGAATTCTGC -3'
(R):5'- ACTGTTCTGACCTGGACACAG -3'

Sequencing Primer
(F):5'- GAGGGTCGAATTCTGCCCCTTC -3'
(R):5'- CCAACTGGAAATCTTGTGGC -3'

Posted On

2021-08-02