Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02394:Il23r'

293947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il23r

Ensembl Gene

ENSMUSG00000049093

Gene Name

interleukin 23 receptor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02394

Quality Score

Status

Chromosome

Chromosomal Location

67399916-67468839 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 67443256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118364]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118364

SMART Domains

Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093

Domain	Start	End	E-Value	Type
FN3	140	220	1e-1	SMART
Blast:FN3	235	317	2e-38	BLAST
transmembrane domain	388	410	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Th17 T cells from homozygous null mice have less secretion of IL-9 upon secondary stimulation. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(6)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	G	A	1: 176,886,985 (GRCm39)	T288M	probably damaging	Het
Baat	A	T	4: 49,489,812 (GRCm39)		probably benign	Het
Bclaf3	A	G	X: 158,338,485 (GRCm39)	Y444C	probably damaging	Het
Bcs1l	A	G	1: 74,629,459 (GRCm39)	T166A	probably damaging	Het
Cep135	C	T	5: 76,779,318 (GRCm39)	T776I	probably benign	Het
Clasrp	A	G	7: 19,337,179 (GRCm39)	L12P	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp4f15	A	G	17: 32,911,609 (GRCm39)	I164V	possibly damaging	Het
Eps15	T	A	4: 109,170,162 (GRCm39)	L155M	probably damaging	Het
Fbxl20	G	A	11: 98,004,082 (GRCm39)	R69W	probably damaging	Het
Galnt9	A	G	5: 110,763,365 (GRCm39)	M457V	probably damaging	Het
Gemin2	T	A	12: 59,060,842 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,135,499 (GRCm39)	Y175N	probably damaging	Het
Gm3298	T	A	14: 5,018,778 (GRCm38)	C178S	probably benign	Het
Gpr37l1	T	C	1: 135,094,746 (GRCm39)	N166S	probably damaging	Het
Gpr45	A	G	1: 43,069,272 (GRCm39)		probably benign	Het
Gpr75	T	C	11: 30,842,190 (GRCm39)	I365T	possibly damaging	Het
Gsdmc2	T	C	15: 63,707,729 (GRCm39)	R22G	probably damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Klk1b24	A	G	7: 43,841,294 (GRCm39)	D209G	possibly damaging	Het
Med13l	A	C	5: 118,886,898 (GRCm39)	T1600P	probably benign	Het
Muc16	G	T	9: 18,409,996 (GRCm39)	H137Q	probably damaging	Het
Nin	T	C	12: 70,090,805 (GRCm39)	E870G	probably damaging	Het
Or12k7	A	G	2: 36,958,497 (GRCm39)	Y60C	probably damaging	Het
Or5b120	A	G	19: 13,480,228 (GRCm39)	N174D	probably damaging	Het
Or6c215	A	T	10: 129,638,182 (GRCm39)	F71I	possibly damaging	Het
Pkhd1	T	C	1: 20,269,710 (GRCm39)	K3278R	possibly damaging	Het
Prlr	A	G	15: 10,328,664 (GRCm39)	N380D	probably benign	Het
Rpgr	A	C	X: 10,032,456 (GRCm39)	S582R	probably benign	Het
Rph3a	T	C	5: 121,084,411 (GRCm39)		probably null	Het
Setd5	A	G	6: 113,087,859 (GRCm39)	H140R	probably benign	Het
Stoml3	C	A	3: 53,405,540 (GRCm39)		probably benign	Het
Teddm1a	A	C	1: 153,767,545 (GRCm39)	D3A	probably benign	Het
Tmem207	A	G	16: 26,335,586 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,591,629 (GRCm39)	Q243L	possibly damaging	Het
Usp5	G	A	6: 124,799,672 (GRCm39)	T274M	probably damaging	Het
Vav2	A	G	2: 27,187,671 (GRCm39)		probably benign	Het
Wdr5b	A	G	16: 35,862,633 (GRCm39)	N251D	probably damaging	Het
Wnk2	C	A	13: 49,235,375 (GRCm39)		probably null	Het

Other mutations in Il23r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Il23r	APN	6	67,400,612 (GRCm39)	missense	probably damaging	0.96
IGL00886:Il23r	APN	6	67,450,874 (GRCm39)	missense	possibly damaging	0.94
IGL00916:Il23r	APN	6	67,450,915 (GRCm39)	missense	probably damaging	1.00
IGL01102:Il23r	APN	6	67,400,909 (GRCm39)	missense	probably damaging	0.98
IGL01466:Il23r	APN	6	67,403,626 (GRCm39)	missense	probably benign	0.30
IGL01627:Il23r	APN	6	67,400,412 (GRCm39)	missense	probably benign	0.17
IGL02160:Il23r	APN	6	67,400,562 (GRCm39)	missense	probably benign	0.09
IGL02418:Il23r	APN	6	67,467,656 (GRCm39)	missense	possibly damaging	0.46
IGL02818:Il23r	APN	6	67,463,078 (GRCm39)	critical splice donor site	probably null
IGL03230:Il23r	APN	6	67,400,948 (GRCm39)	missense	probably benign	0.31
R0029:Il23r	UTSW	6	67,455,929 (GRCm39)	critical splice donor site	probably null
R0029:Il23r	UTSW	6	67,455,929 (GRCm39)	critical splice donor site	probably null
R0035:Il23r	UTSW	6	67,450,772 (GRCm39)	splice site	probably benign
R0035:Il23r	UTSW	6	67,450,772 (GRCm39)	splice site	probably benign
R0085:Il23r	UTSW	6	67,463,206 (GRCm39)	missense	probably damaging	1.00
R0477:Il23r	UTSW	6	67,429,361 (GRCm39)	missense	probably benign	0.00
R0534:Il23r	UTSW	6	67,403,572 (GRCm39)	missense	probably benign	0.00
R0547:Il23r	UTSW	6	67,463,235 (GRCm39)	missense	possibly damaging	0.57
R0547:Il23r	UTSW	6	67,400,685 (GRCm39)	missense	probably benign	0.05
R0666:Il23r	UTSW	6	67,411,664 (GRCm39)	missense	probably benign	0.08
R0702:Il23r	UTSW	6	67,443,269 (GRCm39)	missense	probably damaging	0.97
R0715:Il23r	UTSW	6	67,463,317 (GRCm39)	missense	possibly damaging	0.63
R1077:Il23r	UTSW	6	67,450,794 (GRCm39)	missense	probably benign	0.40
R1202:Il23r	UTSW	6	67,455,937 (GRCm39)	missense	possibly damaging	0.95
R1328:Il23r	UTSW	6	67,468,802 (GRCm39)	start gained	probably benign
R1378:Il23r	UTSW	6	67,429,394 (GRCm39)	missense	possibly damaging	0.68
R1420:Il23r	UTSW	6	67,463,181 (GRCm39)	missense	probably damaging	1.00
R1475:Il23r	UTSW	6	67,429,280 (GRCm39)	critical splice donor site	probably null
R1628:Il23r	UTSW	6	67,400,593 (GRCm39)	missense	probably damaging	1.00
R1745:Il23r	UTSW	6	67,443,275 (GRCm39)	missense	probably damaging	0.98
R1887:Il23r	UTSW	6	67,450,785 (GRCm39)	missense	possibly damaging	0.88
R1901:Il23r	UTSW	6	67,400,718 (GRCm39)	missense	probably benign	0.44
R1902:Il23r	UTSW	6	67,400,718 (GRCm39)	missense	probably benign	0.44
R1928:Il23r	UTSW	6	67,400,719 (GRCm39)	missense	possibly damaging	0.79
R1984:Il23r	UTSW	6	67,467,652 (GRCm39)	splice site	probably null
R1985:Il23r	UTSW	6	67,467,652 (GRCm39)	splice site	probably null
R2264:Il23r	UTSW	6	67,403,651 (GRCm39)	critical splice acceptor site	probably null
R2290:Il23r	UTSW	6	67,400,845 (GRCm39)	missense	probably benign	0.17
R2363:Il23r	UTSW	6	67,429,401 (GRCm39)	missense	probably benign	0.08
R3430:Il23r	UTSW	6	67,429,458 (GRCm39)	missense	probably benign	0.08
R3964:Il23r	UTSW	6	67,443,281 (GRCm39)	missense	probably benign	0.13
R4073:Il23r	UTSW	6	67,463,106 (GRCm39)	missense	probably damaging	1.00
R4164:Il23r	UTSW	6	67,400,647 (GRCm39)	missense	probably benign	0.00
R4643:Il23r	UTSW	6	67,400,977 (GRCm39)	missense	probably benign	0.08
R4700:Il23r	UTSW	6	67,450,834 (GRCm39)	missense	probably damaging	1.00
R4703:Il23r	UTSW	6	67,467,686 (GRCm39)	missense	probably damaging	1.00
R4720:Il23r	UTSW	6	67,400,645 (GRCm39)	missense	probably damaging	1.00
R4828:Il23r	UTSW	6	67,408,635 (GRCm39)	missense	probably benign	0.31
R4911:Il23r	UTSW	6	67,400,545 (GRCm39)	missense	probably benign	0.17
R5119:Il23r	UTSW	6	67,443,300 (GRCm39)	missense	probably damaging	1.00
R5152:Il23r	UTSW	6	67,400,725 (GRCm39)	missense	probably damaging	0.98
R5223:Il23r	UTSW	6	67,463,154 (GRCm39)	missense	probably benign	0.23
R5271:Il23r	UTSW	6	67,400,680 (GRCm39)	missense	probably benign	0.16
R5330:Il23r	UTSW	6	67,400,479 (GRCm39)	missense	probably damaging	1.00
R5331:Il23r	UTSW	6	67,400,479 (GRCm39)	missense	probably damaging	1.00
R5384:Il23r	UTSW	6	67,463,275 (GRCm39)	missense	probably benign	0.10
R5874:Il23r	UTSW	6	67,408,629 (GRCm39)	missense	possibly damaging	0.92
R6037:Il23r	UTSW	6	67,455,938 (GRCm39)	missense	probably damaging	0.99
R6037:Il23r	UTSW	6	67,455,938 (GRCm39)	missense	probably damaging	0.99
R6377:Il23r	UTSW	6	67,400,636 (GRCm39)	missense	probably damaging	0.99
R6925:Il23r	UTSW	6	67,400,477 (GRCm39)	missense	probably damaging	1.00
R6975:Il23r	UTSW	6	67,400,352 (GRCm39)	missense	probably damaging	1.00
R7529:Il23r	UTSW	6	67,467,720 (GRCm39)	missense	possibly damaging	0.84
R7757:Il23r	UTSW	6	67,400,965 (GRCm39)	missense	probably benign	0.02
R7832:Il23r	UTSW	6	67,400,846 (GRCm39)	missense	probably benign	0.08
R7946:Il23r	UTSW	6	67,411,648 (GRCm39)	missense	possibly damaging	0.69
R8078:Il23r	UTSW	6	67,400,577 (GRCm39)	missense	probably damaging	0.99
R8391:Il23r	UTSW	6	67,429,374 (GRCm39)	missense	probably benign	0.27
R8784:Il23r	UTSW	6	67,443,401 (GRCm39)	missense	probably damaging	1.00
R9280:Il23r	UTSW	6	67,429,410 (GRCm39)	missense	probably damaging	1.00
R9352:Il23r	UTSW	6	67,403,592 (GRCm39)	missense	probably damaging	0.98
R9362:Il23r	UTSW	6	67,400,384 (GRCm39)	missense	probably damaging	1.00
R9768:Il23r	UTSW	6	67,408,603 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16