Mutagenetix > Incidental Mutation

Incidental Mutation 'R1802:Il22ra2'

203220

Institutional Source

Beutler Lab

Gene Symbol

Il22ra2

Ensembl Gene

ENSMUSG00000039760

Gene Name

interleukin 22 receptor, alpha 2

Synonyms

Il-22bp

MMRRC Submission

039832-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1802 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19497776-19510429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19502447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 89 (N89Y)

Ref Sequence

ENSEMBL: ENSMUSP00000042642 (fasta)

Gene Model

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

AlphaFold

Q80XF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036564
AA Change: N89Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042642
Gene: ENSMUSG00000039760
AA Change: N89Y

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

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	T	15: 91,047,305 (GRCm39)	R583S	probably benign	Het
Ago2	A	T	15: 72,993,029 (GRCm39)	F492Y	probably damaging	Het
Ano4	T	A	10: 88,816,878 (GRCm39)	D610V	probably damaging	Het
Atp6v0d2	A	G	4: 19,922,366 (GRCm39)		probably null	Het
Atxn7	T	G	14: 14,089,419 (GRCm38)	S312A	probably benign	Het
Azgp1	A	G	5: 137,983,493 (GRCm39)	Y56C	probably damaging	Het
Bcan	A	G	3: 87,900,415 (GRCm39)	V606A	possibly damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
Ccdc63	T	C	5: 122,267,940 (GRCm39)	R9G	probably damaging	Het
Cdyl	T	A	13: 36,056,619 (GRCm39)	L534*	probably null	Het
Celf2	T	C	2: 6,554,744 (GRCm39)	E445G	probably damaging	Het
Cfap97d1	T	A	11: 101,879,302 (GRCm39)	Y25N	possibly damaging	Het
Cimap3	T	A	3: 105,921,866 (GRCm39)	Q19L	possibly damaging	Het
Cnot8	T	C	11: 58,008,361 (GRCm39)	C276R	probably benign	Het
Dock4	A	G	12: 40,844,597 (GRCm39)	I1135V	possibly damaging	Het
Edc3	A	G	9: 57,634,598 (GRCm39)	D205G	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Fancl	T	G	11: 26,409,709 (GRCm39)	S188R	probably benign	Het
Fbn2	T	A	18: 58,186,048 (GRCm39)	K1767*	probably null	Het
Glrb	A	T	3: 80,769,264 (GRCm39)	H154Q	probably damaging	Het
Gm19965	C	T	1: 116,748,633 (GRCm39)	R105*	probably null	Het
Grhpr	C	A	4: 44,988,950 (GRCm39)	Y202*	probably null	Het
Herc2	A	G	7: 55,834,080 (GRCm39)	E3095G	probably damaging	Het
Itgb6	T	C	2: 60,483,625 (GRCm39)	D261G	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kif1a	T	A	1: 92,993,871 (GRCm39)	I360F	probably damaging	Het
Kmt2d	T	C	15: 98,760,866 (GRCm39)	Q828R	unknown	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mios	T	A	6: 8,216,385 (GRCm39)	Y436*	probably null	Het
Mprip	C	T	11: 59,645,867 (GRCm39)	L684F	probably damaging	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Naga	C	T	15: 82,221,669 (GRCm39)	R24Q	probably benign	Het
Nr2c1	G	A	10: 93,999,648 (GRCm39)	V103M	possibly damaging	Het
Oca2	A	G	7: 55,904,728 (GRCm39)	S65G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or52ab7	A	G	7: 102,977,854 (GRCm39)	I54V	probably benign	Het
Phyhipl	A	T	10: 70,434,855 (GRCm39)	I28N	probably benign	Het
Pik3cb	C	A	9: 98,983,342 (GRCm39)	E89*	probably null	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Ppm1a	T	A	12: 72,840,481 (GRCm39)		probably null	Het
Relt	T	C	7: 100,499,401 (GRCm39)	I173V	probably damaging	Het
Rfx7	T	A	9: 72,526,919 (GRCm39)	S1370T	possibly damaging	Het
Rps7	G	A	12: 28,684,258 (GRCm39)	R81C	probably benign	Het
Saa3	T	C	7: 46,361,550 (GRCm39)	*123W	probably null	Het
Serpina3b	C	A	12: 104,104,896 (GRCm39)	H357Q	probably damaging	Het
Slc9c1	T	A	16: 45,378,644 (GRCm39)	N493K	probably benign	Het
Spata31	T	C	13: 65,070,197 (GRCm39)	Y782H	probably benign	Het
Tfap2a	T	C	13: 40,878,646 (GRCm39)	D166G	probably damaging	Het
Thada	A	T	17: 84,771,835 (GRCm39)	M9K	probably benign	Het
Tmem269	A	T	4: 119,068,070 (GRCm39)		probably null	Het
Tnxb	C	A	17: 34,922,863 (GRCm39)	P2482Q	probably damaging	Het
Vit	T	C	17: 78,912,940 (GRCm39)	V291A	possibly damaging	Het
Zfp930	G	T	8: 69,679,046 (GRCm39)	A18S	possibly damaging	Het
Zup1	A	T	10: 33,819,714 (GRCm39)	V200D	probably damaging	Het

Other mutations in Il22ra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02572:Il22ra2	APN	10	19,502,492 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCGTGGTTAGCGTGAAG -3'
(R):5'- GATGAGAGCAAGTGTCTCGG -3'

Sequencing Primer
(F):5'- GTCCTCAGATGGTAGAGAAGA -3'
(R):5'- AGCAAGTGTCTCGGCACAG -3'

Posted On

2014-06-23