Mutagenetix > Incidental Mutation

Incidental Mutation 'R6037:Il23r'

479254

Institutional Source

Beutler Lab

Gene Symbol

Il23r

Ensembl Gene

ENSMUSG00000049093

Gene Name

interleukin 23 receptor

Synonyms

MMRRC Submission

043258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67399916-67468839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67455938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 177 (V177M)

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: V177M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: V177M

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: 99.8%
3x: 99.0%
10x: 92.4%
20x: 72.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abi2	C	A	1: 60,503,738 (GRCm39)	P212T	probably damaging	Het
Ano4	A	G	10: 89,153,108 (GRCm39)	F68S	possibly damaging	Het
Art5	C	A	7: 101,747,591 (GRCm39)	A63S	probably benign	Het
Asgr1	T	A	11: 69,947,247 (GRCm39)	S96R	probably benign	Het
Bdp1	A	T	13: 100,163,957 (GRCm39)	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 135,998,705 (GRCm39)	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,390,738 (GRCm39)	K357E	probably damaging	Het
Cdhr18	T	C	14: 13,864,282 (GRCm38)	N348S	probably damaging	Het
Cfap52	C	T	11: 67,837,126 (GRCm39)	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,456,965 (GRCm39)	F249S	probably damaging	Het
Ece2	A	G	16: 20,449,112 (GRCm39)	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,871,760 (GRCm39)	T425I	probably damaging	Het
Eprs1	A	G	1: 185,128,306 (GRCm39)	E562G	probably damaging	Het
Fbn2	T	C	18: 58,177,295 (GRCm39)	T2001A	probably benign	Het
Flt4	G	A	11: 49,527,867 (GRCm39)	R940H	probably damaging	Het
Fry	T	A	5: 150,351,644 (GRCm39)	M1716K	probably benign	Het
Gm10684	T	A	9: 45,019,039 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,311,416 (GRCm39)	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Klf12	T	C	14: 100,137,650 (GRCm39)	S299G	probably benign	Het
Lama5	G	A	2: 179,848,806 (GRCm39)	R265C	probably damaging	Het
Lifr	A	G	15: 7,216,424 (GRCm39)	T800A	probably damaging	Het
Megf8	T	C	7: 25,063,831 (GRCm39)	L2729P	probably damaging	Het
Mki67	A	C	7: 135,298,532 (GRCm39)	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,534,032 (GRCm39)	K400E	probably damaging	Het
Nomo1	T	A	7: 45,712,423 (GRCm39)	I656N	possibly damaging	Het
Oas3	T	C	5: 120,907,384 (GRCm39)	T418A	probably benign	Het
Olr1	A	G	6: 129,470,504 (GRCm39)	L221P	probably damaging	Het
Or14c44	C	T	7: 86,062,478 (GRCm39)	L303F	probably benign	Het
Or5m9	T	C	2: 85,876,928 (GRCm39)	M34T	probably benign	Het
Or8b3	T	A	9: 38,314,601 (GRCm39)	C144S	probably benign	Het
Or8g22	A	G	9: 38,958,403 (GRCm39)	V104A	probably damaging	Het
Or8k28	T	A	2: 86,286,133 (GRCm39)	I161L	probably benign	Het
Pih1d1	C	T	7: 44,805,738 (GRCm39)	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,703,967 (GRCm39)	S656R	probably damaging	Het
Polr3f	A	G	2: 144,377,943 (GRCm39)	D171G	probably damaging	Het
Rasal1	T	C	5: 120,787,566 (GRCm39)	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,063,595 (GRCm39)	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,502,240 (GRCm39)	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,066,499 (GRCm39)	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 63,989,150 (GRCm39)	Q30K	probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Wipf2	C	T	11: 98,787,005 (GRCm39)	P345S	probably benign	Het
Zeb2	G	T	2: 44,878,652 (GRCm39)	S1170*	probably null	Het
Zfp947	A	G	17: 22,366,415 (GRCm39)	Y38H	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
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

Posted On

2017-06-26