Mutagenetix > Incidental Mutation

Incidental Mutation 'R4643:Il23r'

351728

Institutional Source

Beutler Lab

Gene Symbol

Il23r

Ensembl Gene

ENSMUSG00000049093

Gene Name

interleukin 23 receptor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4643 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67399916-67468839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67400977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 451 (V451A)

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: V451A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: V451A

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,611,396 (GRCm39)	N398D	probably damaging	Het
Adamtsl4	G	A	3: 95,591,929 (GRCm39)	A58V	possibly damaging	Het
Anapc2	T	A	2: 25,166,406 (GRCm39)	V105E	probably benign	Het
C3ar1	A	T	6: 122,827,933 (GRCm39)	C95S	probably damaging	Het
Ccdc87	G	A	19: 4,891,877 (GRCm39)	G790R	probably damaging	Het
Cenpf	A	T	1: 189,391,786 (GRCm39)	M682K	probably benign	Het
Cyp2j13	T	C	4: 95,945,161 (GRCm39)	Q289R	possibly damaging	Het
Dclk2	A	T	3: 86,713,487 (GRCm39)	M453K	possibly damaging	Het
Dscam	G	A	16: 96,486,501 (GRCm39)	T1058M	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,856,006 (GRCm39)	N659S	probably damaging	Het
Hectd4	A	G	5: 121,487,118 (GRCm39)	K3371R	possibly damaging	Het
Il1a	T	A	2: 129,146,623 (GRCm39)	T157S	probably benign	Het
Iqch	T	C	9: 63,502,084 (GRCm39)	T40A	probably benign	Het
Irag2	A	T	6: 145,113,786 (GRCm39)	D318V	probably benign	Het
Kazald1	G	T	19: 45,066,788 (GRCm39)	V196L	probably benign	Het
L1td1	T	C	4: 98,626,120 (GRCm39)	S772P	probably damaging	Het
Lgi1	A	T	19: 38,289,158 (GRCm39)	D145V	probably damaging	Het
Lrp12	A	T	15: 39,735,418 (GRCm39)	L838Q	probably damaging	Het
Mrgprf	C	A	7: 144,862,242 (GRCm39)	P268Q	probably benign	Het
Myef2	T	C	2: 124,958,731 (GRCm39)	K66R	possibly damaging	Het
Myo3b	A	G	2: 70,069,186 (GRCm39)	D475G	possibly damaging	Het
Numa1	C	G	7: 101,649,872 (GRCm39)		probably null	Het
Or6c214	T	C	10: 129,590,824 (GRCm39)	E165G	probably damaging	Het
Prdm8	T	C	5: 98,332,446 (GRCm39)	S116P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
R3hcc1l	G	T	19: 42,551,239 (GRCm39)	V79F	probably benign	Het
Rasal1	C	T	5: 120,817,029 (GRCm39)	T779I	probably benign	Het
Scaper	A	C	9: 55,745,463 (GRCm39)	F596V	probably damaging	Het
Slco2b1	C	T	7: 99,316,214 (GRCm39)	V439M	probably benign	Het
Slco6c1	A	T	1: 96,990,149 (GRCm39)	D680E	probably benign	Het
Smurf1	A	T	5: 144,816,179 (GRCm39)	F725L	probably damaging	Het
Snd1	A	G	6: 28,880,248 (GRCm39)	E674G	probably benign	Het
Srcap	C	T	7: 127,140,948 (GRCm39)	P1515L	probably damaging	Het
Sycp2l	A	G	13: 41,296,941 (GRCm39)	M341V	probably benign	Het
Tmprss6	T	A	15: 78,329,556 (GRCm39)	I492F	probably damaging	Het
Trip10	G	T	17: 57,568,658 (GRCm39)	E416*	probably null	Het
Tstd2	T	C	4: 46,129,297 (GRCm39)	D177G	possibly damaging	Het
Ugt1a5	A	T	1: 88,094,147 (GRCm39)	N125I	possibly damaging	Het
Vmn2r7	G	T	3: 64,623,825 (GRCm39)	S165Y	probably damaging	Het
Zfp663	A	T	2: 165,194,925 (GRCm39)	H431Q	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
R4164:Il23r	UTSW	6	67,400,647 (GRCm39)	missense	probably benign	0.00
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'- AACCTGGGGTTTGTATCCAG -3'
(R):5'- GACCTACGTAAAGATTTAGAACAGACC -3'

Sequencing Primer
(F):5'- TCCAGTGTTGAGGTCAGGAATATAC -3'
(R):5'- TTTAGAACAGACCAAAAAGGCAG -3'

Posted On

2015-10-08