Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4382001:Il17re'

554681

Institutional Source

Beutler Lab

Gene Symbol

Il17re

Ensembl Gene

ENSMUSG00000043088

Gene Name

interleukin 17 receptor E

Synonyms

Il25r

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113458484-113470758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113469077 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 426 (T426A)

Ref Sequence

ENSEMBL: ENSMUSP00000062103 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053569
AA Change: T225A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088
AA Change: T225A

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

probably benign
Transcript: ENSMUST00000058548
AA Change: T426A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088
AA Change: T426A

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 benign
Transcript: ENSMUST00000101065
AA Change: T225A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088
AA Change: T225A

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 benign
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 benign
Transcript: ENSMUST00000204447

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000205208

Coding Region Coverage

1x: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	probably benign	Het

Other mutations in Il17re

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Il17re	APN	6	113469599	missense	probably damaging	0.99
IGL01568:Il17re	APN	6	113470052	missense	probably damaging	1.00
IGL01656:Il17re	APN	6	113462973	splice site	probably benign
IGL01994:Il17re	APN	6	113468450	missense	probably benign	0.13
IGL02261:Il17re	APN	6	113468511	unclassified	probably benign
IGL02699:Il17re	APN	6	113468919	missense	probably damaging	1.00
R0195:Il17re	UTSW	6	113466137	missense	probably damaging	1.00
R1901:Il17re	UTSW	6	113469704	missense	probably damaging	0.98
R2232:Il17re	UTSW	6	113464800	missense	probably damaging	1.00
R2357:Il17re	UTSW	6	113468470	missense	possibly damaging	0.55
R2393:Il17re	UTSW	6	113462353	missense	possibly damaging	0.91
R2916:Il17re	UTSW	6	113466028	critical splice donor site	probably null
R4820:Il17re	UTSW	6	113465855	missense	probably benign	0.08
R4951:Il17re	UTSW	6	113468907	missense	probably damaging	1.00
R4974:Il17re	UTSW	6	113469569	missense	probably benign	0.14
R5070:Il17re	UTSW	6	113459010	missense	probably damaging	0.97
R5166:Il17re	UTSW	6	113462962	missense	probably benign	0.00
R5404:Il17re	UTSW	6	113469102	missense	probably benign	0.00
R5810:Il17re	UTSW	6	113469596	missense	probably damaging	1.00
R5916:Il17re	UTSW	6	113470123	missense	probably damaging	1.00
R6048:Il17re	UTSW	6	113470108	missense	possibly damaging	0.95
R7432:Il17re	UTSW	6	113462371	missense	probably benign	0.07
R7548:Il17re	UTSW	6	113466387	missense	probably damaging	1.00
R7658:Il17re	UTSW	6	113458982	missense	probably benign	0.23
R7716:Il17re	UTSW	6	113462969	critical splice donor site	probably null
R7942:Il17re	UTSW	6	113466150	missense	probably damaging	0.99
R8051:Il17re	UTSW	6	113459367	missense	probably benign	0.01
R8090:Il17re	UTSW	6	113462289	nonsense	probably null
R8302:Il17re	UTSW	6	113466319	nonsense	probably null
Z1177:Il17re	UTSW	6	113464792	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ACGCTAGCTCACATGAGTGG -3'
(R):5'- TAAATAGCCCTGTCGTCCCC -3'

Sequencing Primer
(F):5'- TCACATGAGTGGGGCCCTG -3'
(R):5'- ACACCGCCTTTTGCAGCAG -3'

Posted On

2019-06-07