Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Il17re'

247431

Institutional Source

Beutler Lab

Gene Symbol

Il17re

Ensembl Gene

ENSMUSG00000043088

Gene Name

interleukin 17 receptor E

Synonyms

Il25r

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113435659-113447719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113445431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 381 (I381V)

Ref Sequence

ENSEMBL: ENSMUSP00000145384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053569] [ENSMUST00000058300] [ENSMUST00000058548] [ENSMUST00000101065] [ENSMUST00000203281] [ENSMUST00000203661] [ENSMUST00000204774]

AlphaFold

Q8BH06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053569
AA Change: I180V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088
AA Change: I180V

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: ENSMUST00000058300

SMART Domains

Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281

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

possibly damaging
Transcript: ENSMUST00000058548
AA Change: I381V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088
AA Change: I381V

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

possibly damaging
Transcript: ENSMUST00000101065
AA Change: I180V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088
AA Change: I180V

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

possibly damaging
Transcript: ENSMUST00000203661
AA Change: I381V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088
AA Change: I381V

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

noncoding transcript
Transcript: ENSMUST00000203897

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204774
AA Change: I381V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088
AA Change: I381V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205208

Predicted Effect

probably benign
Transcript: ENSMUST00000204447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205211

Meta Mutation Damage Score

0.2953

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,569,844 (GRCm39)	T520K	possibly damaging	Het
Abca13	T	C	11: 9,247,336 (GRCm39)	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,218,106 (GRCm39)	M248K	probably damaging	Het
Adam11	G	T	11: 102,665,334 (GRCm39)	V467L	probably benign	Het
Afap1	C	T	5: 36,141,618 (GRCm39)	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,486,251 (GRCm39)	Y22*	probably null	Het
Ccdc124	A	T	8: 71,321,179 (GRCm39)	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 179,894,792 (GRCm39)	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,632,950 (GRCm39)	K134*	probably null	Het
Cnpy3	G	T	17: 47,062,909 (GRCm39)	S47R	probably damaging	Het
Cpne8	A	T	15: 90,503,877 (GRCm39)	L96Q	probably damaging	Het
Crisp3	A	T	17: 40,533,396 (GRCm39)	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,613,427 (GRCm39)		probably benign	Het
Cyc1	A	G	15: 76,229,766 (GRCm39)	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,990,846 (GRCm39)	D3296E	probably benign	Het
Dnah8	A	G	17: 31,093,909 (GRCm39)	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,958,638 (GRCm39)	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053 (GRCm39)	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,473,354 (GRCm39)	S179P	probably benign	Het
Esco2	C	A	14: 66,064,000 (GRCm39)	A395S	probably benign	Het
Evi5l	T	C	8: 4,243,113 (GRCm39)		probably benign	Het
Exoc6b	T	C	6: 84,966,321 (GRCm39)	T218A	possibly damaging	Het
Gde1	A	T	7: 118,290,814 (GRCm39)	F170L	probably benign	Het
Ggt5	A	C	10: 75,445,075 (GRCm39)	I361L	probably benign	Het
Golga3	C	T	5: 110,350,514 (GRCm39)	T683M	probably damaging	Het
Golgb1	A	G	16: 36,732,370 (GRCm39)	Q539R	probably damaging	Het
Grm2	A	G	9: 106,524,780 (GRCm39)	V645A	probably damaging	Het
Gtf2h4	A	T	17: 35,978,891 (GRCm39)	V408D	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299 (GRCm39)	H583L	probably damaging	Het
Hivep2	C	T	10: 14,019,043 (GRCm39)	A1938V	probably benign	Het
Iars1	T	C	13: 49,841,679 (GRCm39)	Y56H	probably damaging	Het
Klrd1	T	A	6: 129,573,872 (GRCm39)	*71K	probably null	Het
Kng1	A	T	16: 22,897,815 (GRCm39)	Y405F	possibly damaging	Het
Kptn	G	T	7: 15,859,709 (GRCm39)	C311F	probably damaging	Het
Lama5	T	C	2: 179,821,890 (GRCm39)	I2982V	probably benign	Het
Mamstr	G	T	7: 45,291,754 (GRCm39)	D35Y	probably damaging	Het
Mdc1	A	G	17: 36,158,337 (GRCm39)	D239G	probably benign	Het
Mindy3	T	G	2: 12,408,987 (GRCm39)		probably benign	Het
Mrpl39	A	T	16: 84,524,452 (GRCm39)	H204Q	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,108,647 (GRCm39)	M1476K	probably damaging	Het
Nol4	A	G	18: 23,172,967 (GRCm39)	S45P	probably benign	Het
Nol8	T	C	13: 49,807,980 (GRCm39)		probably null	Het
Or4f61	A	G	2: 111,922,743 (GRCm39)	I101T	possibly damaging	Het
Or5d18	A	T	2: 87,865,028 (GRCm39)	W152R	probably damaging	Het
Or6c207	C	A	10: 129,104,642 (GRCm39)	K183N	probably benign	Het
Or8b56	T	C	9: 38,739,634 (GRCm39)	S216P	probably benign	Het
Plau	T	A	14: 20,888,683 (GRCm39)	V100D	probably damaging	Het
Plpp7	T	C	2: 31,999,654 (GRCm39)	V6A	probably benign	Het
Prr14	T	C	7: 127,074,535 (GRCm39)	S356P	probably benign	Het
Rabl3	A	G	16: 37,362,293 (GRCm39)	D44G	probably null	Het
Rasa4	T	C	5: 136,120,101 (GRCm39)	V59A	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rictor	A	T	15: 6,813,043 (GRCm39)	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,443,743 (GRCm39)	V70A	probably benign	Het
S100a7l2	A	T	3: 90,995,733 (GRCm39)	S56R	probably benign	Het
St3gal1	A	G	15: 66,985,631 (GRCm39)	Y8H	probably benign	Het
Strn	G	A	17: 78,963,028 (GRCm39)	T745I	probably damaging	Het
Tbx15	C	T	3: 99,223,672 (GRCm39)		probably null	Het
Tbx20	T	A	9: 24,681,072 (GRCm39)	D140V	possibly damaging	Het
Ttn	A	C	2: 76,666,923 (GRCm39)	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050 (GRCm39)	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,778,151 (GRCm39)		probably benign	Het
Vps13d	GG	GGGGGG	4: 144,801,547 (GRCm39)		probably null	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp78	G	A	7: 6,382,056 (GRCm39)	G369R	probably damaging	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
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
R7716:Il17re	UTSW	6	113,439,930 (GRCm39)	critical splice donor site	probably null
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'- ATCCTCATGGTGGCACTCTG -3'
(R):5'- GGGAAGGCAAACTATAAGTGTTTTG -3'

Sequencing Primer
(F):5'- CTGTGTGTGTTAACTCAGCCAAAGC -3'
(R):5'- CTAGTGATGGCTAATTCCAG -3'

Posted On

2014-11-11