Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Il17rd'

567010

Institutional Source

Beutler Lab

Gene Symbol

Il17rd

Ensembl Gene

ENSMUSG00000040717

Gene Name

interleukin 17 receptor D

Synonyms

2810004A10Rik, Sef-S, Sef

MMRRC Submission

045405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26760990-26829243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26798348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 56 (I56T)

Ref Sequence

ENSEMBL: ENSMUSP00000036076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035336] [ENSMUST00000223942] [ENSMUST00000225146] [ENSMUST00000226105]

AlphaFold

Q8JZL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035336
AA Change: I56T

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: I56T

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	26	36	N/A	INTRINSIC
Pfam:IL17R_D_N	48	169	2.7e-68	PFAM
Pfam:SEFIR	356	511	9.6e-56	PFAM
low complexity region	667	684	N/A	INTRINSIC
low complexity region	688	705	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223942
AA Change: I56T

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000225146

Predicted Effect

probably benign
Transcript: ENSMUST00000226105

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and show no obvious phenotype. A subset of mice homozygous for a gene-trapped allele display cochlear nucleus defects and abnormal auditory brainstem responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,376,308 (GRCm39)	S345N	possibly damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,488,624 (GRCm39)	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,689,940 (GRCm39)	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,093,383 (GRCm39)	Y791*	probably null	Het
Cacng8	C	A	7: 3,463,937 (GRCm39)	T363K	probably benign	Het
Camkmt	A	G	17: 85,738,921 (GRCm39)	T216A	probably benign	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cnppd1	A	G	1: 75,113,068 (GRCm39)	L400P	probably damaging	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,692,933 (GRCm39)	V359A	possibly damaging	Het
Dscam	T	C	16: 96,857,732 (GRCm39)	T93A	probably benign	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Entpd2	T	A	2: 25,290,921 (GRCm39)	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,128,060 (GRCm39)	Q715K	probably benign	Het
Fam186b	T	C	15: 99,176,629 (GRCm39)	R754G	probably benign	Het
Fcgbp	T	A	7: 27,792,861 (GRCm39)	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,689,212 (GRCm39)	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Greb1l	C	G	18: 10,544,970 (GRCm39)	Q1433E	probably damaging	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,275,915 (GRCm39)	N74K	probably benign	Het
Il12rb1	A	G	8: 71,266,343 (GRCm39)	I229M	possibly damaging	Het
Itpr1	T	C	6: 108,518,985 (GRCm39)	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Lmf2	C	A	15: 89,239,733 (GRCm39)		probably benign	Het
Lrrc3b	T	C	14: 15,357,934 (GRCm38)	Y224C	probably damaging	Het
Med1	A	C	11: 98,043,634 (GRCm39)	F599C	probably benign	Het
Mrgprb4	A	G	7: 47,848,506 (GRCm39)	S141P	probably damaging	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,436,504 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Nqo1	A	G	8: 108,119,280 (GRCm39)	I99T	probably damaging	Het
Or1j17	T	A	2: 36,578,023 (GRCm39)	M3K	probably benign	Het
Or6c2b	T	C	10: 128,947,568 (GRCm39)	H242R	probably damaging	Het
Pabir1	T	A	19: 24,454,488 (GRCm39)	H78L	probably benign	Het
Pabir1	T	A	19: 24,454,710 (GRCm39)	E4V	probably damaging	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Plpp7	T	G	2: 31,986,067 (GRCm39)	F82V	probably benign	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,128,739 (GRCm39)	W64R	probably damaging	Het
Rilp	G	T	11: 75,400,942 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Slc27a4	C	T	2: 29,702,944 (GRCm39)	T591I	probably null	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Spata31f1e	T	C	4: 42,792,923 (GRCm39)	N403S	possibly damaging	Het
Sptbn1	A	T	11: 30,067,798 (GRCm39)	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Synpo2	A	C	3: 122,907,702 (GRCm39)	M538R	probably benign	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,052,978 (GRCm39)	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	Het

Other mutations in Il17rd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Il17rd	APN	14	26,817,901 (GRCm39)	missense	probably damaging	1.00
IGL02274:Il17rd	APN	14	26,821,867 (GRCm39)	missense	probably damaging	1.00
IGL02732:Il17rd	APN	14	26,809,376 (GRCm39)	missense	probably damaging	1.00
IGL03118:Il17rd	APN	14	26,815,352 (GRCm39)	critical splice acceptor site	probably null
IGL03175:Il17rd	APN	14	26,821,963 (GRCm39)	missense	probably damaging	1.00
FR4304:Il17rd	UTSW	14	26,804,637 (GRCm39)	utr 5 prime	probably benign
FR4449:Il17rd	UTSW	14	26,804,635 (GRCm39)	utr 5 prime	probably benign
FR4737:Il17rd	UTSW	14	26,804,637 (GRCm39)	utr 5 prime	probably benign
FR4976:Il17rd	UTSW	14	26,804,634 (GRCm39)	utr 5 prime	probably benign
R0063:Il17rd	UTSW	14	26,804,691 (GRCm39)	nonsense	probably null
R0063:Il17rd	UTSW	14	26,804,690 (GRCm39)	missense	probably damaging	1.00
R0076:Il17rd	UTSW	14	26,816,811 (GRCm39)	missense	probably damaging	1.00
R0452:Il17rd	UTSW	14	26,813,888 (GRCm39)	missense	probably damaging	1.00
R1540:Il17rd	UTSW	14	26,821,915 (GRCm39)	missense	probably damaging	1.00
R1760:Il17rd	UTSW	14	26,813,763 (GRCm39)	nonsense	probably null
R2192:Il17rd	UTSW	14	26,816,835 (GRCm39)	missense	probably damaging	1.00
R2886:Il17rd	UTSW	14	26,821,510 (GRCm39)	missense	probably damaging	1.00
R3688:Il17rd	UTSW	14	26,761,105 (GRCm39)	missense	probably null	0.14
R4534:Il17rd	UTSW	14	26,818,019 (GRCm39)	missense	probably damaging	0.98
R5042:Il17rd	UTSW	14	26,817,998 (GRCm39)	missense	probably damaging	1.00
R5410:Il17rd	UTSW	14	26,817,868 (GRCm39)	missense	probably damaging	1.00
R5528:Il17rd	UTSW	14	26,810,024 (GRCm39)	missense	possibly damaging	0.94
R5829:Il17rd	UTSW	14	26,814,042 (GRCm39)	splice site	probably null
R5919:Il17rd	UTSW	14	26,818,001 (GRCm39)	missense	probably damaging	0.99
R6305:Il17rd	UTSW	14	26,817,899 (GRCm39)	missense	possibly damaging	0.77
R6739:Il17rd	UTSW	14	26,821,488 (GRCm39)	missense	possibly damaging	0.55
R6829:Il17rd	UTSW	14	26,809,379 (GRCm39)	nonsense	probably null
R7336:Il17rd	UTSW	14	26,809,503 (GRCm39)	missense	probably benign	0.00
R7521:Il17rd	UTSW	14	26,816,823 (GRCm39)	missense	probably benign	0.05
R7649:Il17rd	UTSW	14	26,761,167 (GRCm39)	missense	probably benign	0.22
R7741:Il17rd	UTSW	14	26,822,293 (GRCm39)	missense	probably damaging	1.00
R7814:Il17rd	UTSW	14	26,822,074 (GRCm39)	missense	probably benign	0.20
R8363:Il17rd	UTSW	14	26,813,906 (GRCm39)	missense	probably damaging	1.00
R8545:Il17rd	UTSW	14	26,813,886 (GRCm39)	missense	probably damaging	1.00
R8889:Il17rd	UTSW	14	26,821,930 (GRCm39)	missense	possibly damaging	0.93
Z1177:Il17rd	UTSW	14	26,822,218 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCATTCCCTTGGACTGGAG -3'
(R):5'- TTTGGCAGCTTGATGTAGACTAC -3'

Sequencing Primer
(F):5'- GTCATGGGGTAGTGCAAGG -3'
(R):5'- GCAGCTTGATGTAGACTACAATGC -3'

Posted On

2019-06-26