Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Il17re'

594913

Institutional Source

Beutler Lab

Gene Symbol

Il17re

Ensembl Gene

ENSMUSG00000043088

Gene Name

interleukin 17 receptor E

Synonyms

Il25r

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113435659-113447719 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 113439930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000062103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053569] [ENSMUST00000058548] [ENSMUST00000101065] [ENSMUST00000203281] [ENSMUST00000203661] [ENSMUST00000204774]

AlphaFold

Q8BH06

Predicted Effect

probably null
Transcript: ENSMUST00000053569

SMART Domains

Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088

Domain	Start	End	E-Value	Type
Pfam:IL17_R_N	1	207	8.2e-109	PFAM
transmembrane domain	214	236	N/A	INTRINSIC
Pfam:SEFIR	247	384	8.5e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058548

SMART Domains

Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:IL17_R_N	26	408	6.2e-121	PFAM
transmembrane domain	415	437	N/A	INTRINSIC
Pfam:SEFIR	448	585	1.3e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101065

SMART Domains

Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088

Domain	Start	End	E-Value	Type
Pfam:IL17_R_N	1	207	8.2e-109	PFAM
transmembrane domain	214	236	N/A	INTRINSIC
Pfam:SEFIR	247	384	8.5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203281

SMART Domains

Protein: ENSMUSP00000145363
Gene: ENSMUSG00000043088

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000203661

SMART Domains

Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:IL17_R_N	26	408	5.6e-121	PFAM
Pfam:SEFIR	403	539	1.6e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000204774

SMART Domains

Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:IL17_R_N	26	408	5.6e-121	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:SEFIR	428	565	1.2e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous mice exhibit increased susceptibility to DSS-induced colitis, imiquimod-induced psoriasis, and C. rodentium bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,162 (GRCm39)	C41Y	possibly damaging	Het
Abcg1	A	G	17: 31,328,493 (GRCm39)	I421V	probably benign	Het
Ank2	G	T	3: 126,736,815 (GRCm39)	T3023K	unknown	Het
Asb5	T	A	8: 55,038,021 (GRCm39)	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,386,902 (GRCm39)	V242I	probably benign	Het
Atp2a1	C	A	7: 126,061,359 (GRCm39)	G46V	possibly damaging	Het
Birc6	A	G	17: 74,869,056 (GRCm39)	S335G	probably damaging	Het
Bmp1	A	T	14: 70,715,362 (GRCm39)	Y924*	probably null	Het
Ccdc3	T	A	2: 5,143,113 (GRCm39)	F123L	probably benign	Het
Col6a6	C	A	9: 105,661,102 (GRCm39)	V336L	possibly damaging	Het
Cpe	T	C	8: 65,064,431 (GRCm39)	Y256C	probably damaging	Het
Creb1	T	A	1: 64,605,420 (GRCm39)	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,458,283 (GRCm39)	Y38N	probably damaging	Het
Cyren	T	C	6: 34,852,516 (GRCm39)	N60D	possibly damaging	Het
Dnajc1	A	G	2: 18,224,684 (GRCm39)	S390P	probably benign	Het
Edrf1	G	A	7: 133,245,455 (GRCm39)	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,774,511 (GRCm39)	S98P	probably damaging	Het
Emsy	G	A	7: 98,248,973 (GRCm39)	A812V	unknown	Het
Eppk1	A	T	15: 75,991,703 (GRCm39)	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274 (GRCm38)	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,662,209 (GRCm39)	R40W	probably damaging	Het
Gnpat	A	G	8: 125,603,673 (GRCm39)	R194G	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Inpp5d	G	A	1: 87,593,121 (GRCm39)	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,687,969 (GRCm39)	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Klhdc4	T	A	8: 122,556,159 (GRCm39)	M21L	unknown	Het
Lgalsl2	T	C	7: 5,362,819 (GRCm39)	I150T	possibly damaging	Het
Lrguk	C	T	6: 34,072,474 (GRCm39)	A588V	probably damaging	Het
Marchf5	T	C	19: 37,197,822 (GRCm39)	Y164H	probably benign	Het
Mbip	T	A	12: 56,392,473 (GRCm39)	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Myh8	A	T	11: 67,189,478 (GRCm39)	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,830,589 (GRCm39)	I56K	probably benign	Het
Ndufs1	T	C	1: 63,192,016 (GRCm39)	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,753,651 (GRCm39)	L244P	probably damaging	Het
Or11h6	A	G	14: 50,879,815 (GRCm39)	T20A	probably benign	Het
Or14a258	A	T	7: 86,035,262 (GRCm39)	M202K	probably benign	Het
Pdc	A	C	1: 150,206,534 (GRCm39)	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,460 (GRCm39)	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,705,295 (GRCm39)	G900V	probably benign	Het
Plpp1	A	T	13: 112,993,323 (GRCm39)	H86L	probably benign	Het
Plpp1	T	G	13: 112,996,186 (GRCm39)	F168C	probably damaging	Het
Pms1	G	A	1: 53,246,767 (GRCm39)	P312S	probably damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,850,208 (GRCm39)	D19G	probably damaging	Het
Sdr42e1	T	A	8: 118,400,386 (GRCm39)		probably benign	Het
Serpinb8	C	T	1: 107,532,438 (GRCm39)	R177*	probably null	Het
Serpini1	A	C	3: 75,524,021 (GRCm39)	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Smco3	T	A	6: 136,808,247 (GRCm39)	Y209F	probably damaging	Het
Smtn	C	G	11: 3,474,708 (GRCm39)	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Sri	T	A	5: 8,106,641 (GRCm39)		probably null	Het
Strn	G	A	17: 78,963,204 (GRCm39)	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,466,213 (GRCm39)	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,937,573 (GRCm39)	F628I	probably damaging	Het
Trrap	T	A	5: 144,713,956 (GRCm39)	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,633,090 (GRCm39)	G201C	probably damaging	Het
Tti1	T	A	2: 157,842,618 (GRCm39)	I804F	probably benign	Het
Unc5b	C	T	10: 60,613,217 (GRCm39)	G340R	probably damaging	Het
Usp13	C	A	3: 32,892,005 (GRCm39)	Y61*	probably null	Het
Vmn1r230	T	C	17: 21,067,144 (GRCm39)	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,704 (GRCm39)	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,308,018 (GRCm39)	V740A	probably benign	Het
Zbtb14	A	G	17: 69,694,415 (GRCm39)	I38V	probably benign	Het
Zfp623	T	C	15: 75,820,271 (GRCm39)	I409T	probably damaging	Het
Zfp764l1	T	A	7: 126,991,259 (GRCm39)	M243L	probably benign	Het

Other mutations in Il17re

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Il17re	APN	6	113,446,560 (GRCm39)	missense	probably damaging	0.99
IGL01568:Il17re	APN	6	113,447,013 (GRCm39)	missense	probably damaging	1.00
IGL01656:Il17re	APN	6	113,439,934 (GRCm39)	splice site	probably benign
IGL01994:Il17re	APN	6	113,445,411 (GRCm39)	missense	probably benign	0.13
IGL02261:Il17re	APN	6	113,445,472 (GRCm39)	unclassified	probably benign
IGL02699:Il17re	APN	6	113,445,880 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Il17re	UTSW	6	113,446,038 (GRCm39)	missense	probably benign	0.00
R0195:Il17re	UTSW	6	113,443,098 (GRCm39)	missense	probably damaging	1.00
R1901:Il17re	UTSW	6	113,446,665 (GRCm39)	missense	probably damaging	0.98
R2232:Il17re	UTSW	6	113,441,761 (GRCm39)	missense	probably damaging	1.00
R2357:Il17re	UTSW	6	113,445,431 (GRCm39)	missense	possibly damaging	0.55
R2393:Il17re	UTSW	6	113,439,314 (GRCm39)	missense	possibly damaging	0.91
R2916:Il17re	UTSW	6	113,442,989 (GRCm39)	critical splice donor site	probably null
R4820:Il17re	UTSW	6	113,442,816 (GRCm39)	missense	probably benign	0.08
R4951:Il17re	UTSW	6	113,445,868 (GRCm39)	missense	probably damaging	1.00
R4974:Il17re	UTSW	6	113,446,530 (GRCm39)	missense	probably benign	0.14
R5070:Il17re	UTSW	6	113,435,971 (GRCm39)	missense	probably damaging	0.97
R5166:Il17re	UTSW	6	113,439,923 (GRCm39)	missense	probably benign	0.00
R5404:Il17re	UTSW	6	113,446,063 (GRCm39)	missense	probably benign	0.00
R5810:Il17re	UTSW	6	113,446,557 (GRCm39)	missense	probably damaging	1.00
R5916:Il17re	UTSW	6	113,447,084 (GRCm39)	missense	probably damaging	1.00
R6048:Il17re	UTSW	6	113,447,069 (GRCm39)	missense	possibly damaging	0.95
R7432:Il17re	UTSW	6	113,439,332 (GRCm39)	missense	probably benign	0.07
R7548:Il17re	UTSW	6	113,443,348 (GRCm39)	missense	probably damaging	1.00
R7658:Il17re	UTSW	6	113,435,943 (GRCm39)	missense	probably benign	0.23
R7942:Il17re	UTSW	6	113,443,111 (GRCm39)	missense	probably damaging	0.99
R8051:Il17re	UTSW	6	113,436,328 (GRCm39)	missense	probably benign	0.01
R8090:Il17re	UTSW	6	113,439,250 (GRCm39)	nonsense	probably null
R8302:Il17re	UTSW	6	113,443,280 (GRCm39)	nonsense	probably null
R9299:Il17re	UTSW	6	113,440,971 (GRCm39)	missense	probably benign	0.00
Z1177:Il17re	UTSW	6	113,441,753 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GAGAACATCTCCCTGAAGCAG -3'
(R):5'- AGCCCACAACTTTTCTGTCTAG -3'

Sequencing Primer
(F):5'- ATGGTTTCATCCTTACCTGAGCCAG -3'
(R):5'- GCAATTACTCTCTGTCCG -3'

Posted On

2019-11-12