Mutagenetix > Incidental Mutation

Incidental Mutation 'R4164:Il23r'

321653

Institutional Source

Beutler Lab

Gene Symbol

Il23r

Ensembl Gene

ENSMUSG00000049093

Gene Name

interleukin 23 receptor

Synonyms

MMRRC Submission

041638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67399916-67468839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67400647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 561 (Q561L)

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
AA Change: Q561L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: Q561L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

89% (40/45)

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
Acap1	C	T	11: 69,780,863 (GRCm39)	A164T	probably benign	Het
Ash1l	A	G	3: 88,889,273 (GRCm39)	D384G	probably damaging	Het
Cntn5	A	G	9: 9,781,681 (GRCm39)	V666A	probably damaging	Het
Defb41	C	T	1: 18,330,821 (GRCm39)	C42Y	probably damaging	Het
Dennd4c	C	A	4: 86,725,764 (GRCm39)	N739K	probably benign	Het
Dnah6	C	T	6: 73,066,575 (GRCm39)	W2598*	probably null	Het
Ell	G	T	8: 71,034,223 (GRCm39)	R30L	probably damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fer1l6	A	C	15: 58,431,087 (GRCm39)	R247S	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Ighm	T	A	12: 113,385,915 (GRCm39)	E108V	unknown	Het
Kank1	A	G	19: 25,388,436 (GRCm39)	D703G	probably benign	Het
Kcnt2	A	T	1: 140,537,368 (GRCm39)	Y1109F	probably damaging	Het
Lamb2	T	A	9: 108,367,497 (GRCm39)	Y1760N	probably damaging	Het
Lrpprc	T	C	17: 85,038,617 (GRCm39)	E950G	possibly damaging	Het
Lrrc66	T	A	5: 73,787,119 (GRCm39)		probably null	Het
Mtbp	T	C	15: 55,472,917 (GRCm39)	V627A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nipbl	T	C	15: 8,368,418 (GRCm39)	N1142S	probably benign	Het
Nrxn2	G	A	19: 6,582,173 (GRCm39)	V660I	probably damaging	Het
Oas1c	T	C	5: 120,946,204 (GRCm39)	E98G	probably damaging	Het
Or8a1b	T	G	9: 37,622,994 (GRCm39)	I194L	probably benign	Het
Otx1	A	G	11: 21,946,638 (GRCm39)		probably benign	Het
Prkcd	A	G	14: 30,323,154 (GRCm39)	F461L	probably damaging	Het
Prune2	T	C	19: 16,981,098 (GRCm39)	F85S	possibly damaging	Het
Rnf214	G	A	9: 45,783,210 (GRCm39)	R184W	probably damaging	Het
Scn5a	T	C	9: 119,324,844 (GRCm39)	N1328S	probably damaging	Het
Secisbp2l	T	C	2: 125,593,803 (GRCm39)		probably benign	Het
Smarcal1	A	G	1: 72,665,848 (GRCm39)		probably benign	Het
Snx21	T	C	2: 164,628,770 (GRCm39)	Y138H	probably damaging	Het
Sox5	T	A	6: 144,062,206 (GRCm39)	R149W	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Tlr1	A	G	5: 65,084,545 (GRCm39)	C11R	possibly damaging	Het
Vmn2r23	A	T	6: 123,706,697 (GRCm39)	H509L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGACAACAGAGTCTGCGCTG -3'
(R):5'- AAGGCTCACAGGACTCCTTGAG -3'

Sequencing Primer
(F):5'- CTGCGCTGGGATAGTTTCAC -3'
(R):5'- CTTGAGACAAGAGACTGTCCTCTAG -3'

Posted On

2015-06-12