Mutagenetix > Incidental Mutation

Incidental Mutation 'R9768:Il23r'

733367

Institutional Source

Beutler Lab

Gene Symbol

Il23r

Ensembl Gene

ENSMUSG00000049093

Gene Name

interleukin 23 receptor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67399916-67468839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67408603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 413 (S413P)

Ref Sequence

ENSEMBL: ENSMUSP00000113342 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118364
AA Change: S413P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: S413P

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

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.2%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524B15Rik	C	A	11: 31,915,770 (GRCm39)	F37L	probably benign	Het
Akna	T	C	4: 63,292,636 (GRCm39)	E1091G	probably benign	Het
Asxl3	A	G	18: 22,650,101 (GRCm39)	T697A	probably benign	Het
Cdk5r1	A	G	11: 80,368,414 (GRCm39)	Y27C	probably damaging	Het
Cdkl2	T	A	5: 92,165,244 (GRCm39)	I511L	probably benign	Het
Clp1	A	C	2: 84,556,477 (GRCm39)	M1R	probably null	Het
Csrnp1	A	C	9: 119,801,819 (GRCm39)	D413E	probably damaging	Het
Gbp2	T	C	3: 142,341,055 (GRCm39)	S479P	probably benign	Het
Klb	G	T	5: 65,537,373 (GRCm39)	R901L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lta4h	G	A	10: 93,308,818 (GRCm39)	V373I	probably benign	Het
Map3k1	G	T	13: 111,904,630 (GRCm39)	Q385K	probably benign	Het
Mapk8ip2	A	T	15: 89,343,160 (GRCm39)	D634V	probably damaging	Het
Myocd	T	C	11: 65,078,217 (GRCm39)	E526G	probably damaging	Het
Nipal4	C	T	11: 46,041,473 (GRCm39)	V241M	probably damaging	Het
Nup188	T	A	2: 30,227,045 (GRCm39)	V1206E	probably damaging	Het
Pak6	A	G	2: 118,520,396 (GRCm39)	Y129C	probably damaging	Het
Pigp	T	A	16: 94,166,332 (GRCm39)	K125N	probably damaging	Het
Pmm1	G	A	15: 81,840,460 (GRCm39)	T95M	possibly damaging	Het
Prrt3	A	T	6: 113,474,032 (GRCm39)	N335K	probably damaging	Het
Rsrc2	T	C	5: 123,868,561 (GRCm39)	N361S	probably benign	Het
Slc45a1	T	C	4: 150,722,982 (GRCm39)	T301A	probably benign	Het
Spata19	A	C	9: 27,311,744 (GRCm39)	D121A	probably damaging	Het
Speg	T	A	1: 75,395,617 (GRCm39)	L1796*	probably null	Het
Stx2	A	G	5: 129,063,422 (GRCm39)	S288P	unknown	Het
Tlk1	C	T	2: 70,600,400 (GRCm39)	S93N	probably damaging	Het
Tmc8	A	G	11: 117,676,029 (GRCm39)	D256G	probably damaging	Het
Vldlr	T	C	19: 27,218,720 (GRCm39)	Y524H	possibly damaging	Het
Vmn1r168	T	C	7: 23,240,509 (GRCm39)	F122S	probably benign	Het
Vmn2r67	T	C	7: 84,802,037 (GRCm39)	N88S	probably benign	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	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
IGL02394:Il23r	APN	6	67,443,256 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ACTGTCTCTCCTTGATGAGTGC -3'
(R):5'- ACTTTAAACAGGGTACAGAGAACAC -3'

Sequencing Primer
(F):5'- TCAGCTGGTAAAGATCTCGC -3'
(R):5'- GAACACTGACATGGTCATCTCGTG -3'

Posted On

2022-11-14