Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Il22ra2'

299065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il22ra2

Ensembl Gene

ENSMUSG00000039760

Gene Name

interleukin 22 receptor, alpha 2

Synonyms

Il-22bp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

19497776-19510429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19502492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 104 (T104S)

Ref Sequence

ENSEMBL: ENSMUSP00000042642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036564]

AlphaFold

Q80XF5

Predicted Effect

probably benign
Transcript: ENSMUST00000036564
AA Change: T104S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042642
Gene: ENSMUSG00000039760
AA Change: T104S

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	6	113	3.4e-37	PFAM
Pfam:Interfer-bind	125	230	1.4e-26	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display accelerated tumor formation in a colitis associated colon cancer model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,197,526 (GRCm39)	I624T	probably damaging	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bbof1	G	A	12: 84,475,139 (GRCm39)	D443N	probably damaging	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Cop1	T	A	1: 159,136,448 (GRCm39)		probably benign	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Lrp5	G	T	19: 3,664,283 (GRCm39)	Q815K	probably benign	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or2aj6	T	A	16: 19,443,848 (GRCm39)	M1L	probably benign	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusf1	A	T	7: 127,889,752 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	probably benign	Het

Other mutations in Il22ra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02835:Il22ra2	UTSW	10	19,502,424 (GRCm39)	missense	probably benign	0.04
R0009:Il22ra2	UTSW	10	19,500,206 (GRCm39)	missense	probably damaging	1.00
R0009:Il22ra2	UTSW	10	19,500,206 (GRCm39)	missense	probably damaging	1.00
R1687:Il22ra2	UTSW	10	19,508,620 (GRCm39)	missense	probably benign	0.09
R1802:Il22ra2	UTSW	10	19,502,447 (GRCm39)	missense	probably damaging	0.98
R2138:Il22ra2	UTSW	10	19,508,618 (GRCm39)	missense	probably benign	0.00
R2139:Il22ra2	UTSW	10	19,508,618 (GRCm39)	missense	probably benign	0.00
R3936:Il22ra2	UTSW	10	19,507,456 (GRCm39)	missense	probably benign	0.00
R4063:Il22ra2	UTSW	10	19,502,400 (GRCm39)	missense	possibly damaging	0.88
R4559:Il22ra2	UTSW	10	19,502,460 (GRCm39)	missense	possibly damaging	0.90
R7578:Il22ra2	UTSW	10	19,507,372 (GRCm39)	missense	probably benign	0.10
R7661:Il22ra2	UTSW	10	19,497,826 (GRCm39)	missense	probably benign	0.01
R8720:Il22ra2	UTSW	10	19,508,599 (GRCm39)	missense	probably damaging	1.00
R8897:Il22ra2	UTSW	10	19,507,401 (GRCm39)	missense	probably damaging	0.99
R9483:Il22ra2	UTSW	10	19,508,542 (GRCm39)	missense	possibly damaging	0.47

Posted On

2015-04-16