Mutagenetix > Incidental Mutation

Incidental Mutation 'R4063:Il22ra2'

315971

Institutional Source

Beutler Lab

Gene Symbol

Il22ra2

Ensembl Gene

ENSMUSG00000039760

Gene Name

interleukin 22 receptor, alpha 2

Synonyms

Il-22bp

MMRRC Submission

041619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19497776-19510429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19502400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 73 (D73V)

Ref Sequence

ENSEMBL: ENSMUSP00000042642 (fasta)

Gene Model

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

AlphaFold

Q80XF5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036564
AA Change: D73V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042642
Gene: ENSMUSG00000039760
AA Change: D73V

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (59/61)

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
1700034J05Rik	A	T	6: 146,854,606 (GRCm39)	F145L	probably benign	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Adamtsl4	T	C	3: 95,584,864 (GRCm39)	K935E	probably benign	Het
Ago4	A	T	4: 126,409,655 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,130,575 (GRCm39)	D421G	probably benign	Het
Armh4	T	A	14: 50,011,444 (GRCm39)	M88L	probably benign	Het
Atl2	T	C	17: 80,157,588 (GRCm39)	*413W	probably null	Het
B4galt7	C	A	13: 55,756,152 (GRCm39)		probably null	Het
Bltp3b	A	G	10: 89,651,917 (GRCm39)	N247S	probably benign	Het
C8g	A	T	2: 25,389,425 (GRCm39)	S147T	probably damaging	Het
Clstn3	A	T	6: 124,426,792 (GRCm39)	Y510N	possibly damaging	Het
Cnot2	A	G	10: 116,373,301 (GRCm39)	V34A	possibly damaging	Het
Cyb5d2	A	T	11: 72,686,606 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,421,144 (GRCm39)	I3827T	probably damaging	Het
Dnah7a	G	T	1: 53,464,376 (GRCm39)	Q3672K	probably benign	Het
Dock1	A	T	7: 134,717,021 (GRCm39)	Y1219F	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Gm10719	G	T	9: 3,019,043 (GRCm39)	W96L	probably damaging	Het
H2-M2	G	A	17: 37,792,399 (GRCm39)	H291Y	probably damaging	Het
Hmgcl	T	C	4: 135,686,035 (GRCm39)	Y167H	probably damaging	Het
Incenp	A	T	19: 9,861,142 (GRCm39)	M480K	unknown	Het
Irag1	G	T	7: 110,522,984 (GRCm39)	A359D	probably benign	Het
Kdm6a	A	G	X: 18,117,114 (GRCm39)	T266A	probably benign	Het
Lipf	A	G	19: 33,942,965 (GRCm39)	N91S	probably benign	Het
M1ap	A	T	6: 82,980,756 (GRCm39)	N214I	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mdga1	A	G	17: 30,057,005 (GRCm39)	C826R	probably damaging	Het
Msx1	C	A	5: 37,981,365 (GRCm39)	A105S	probably benign	Het
Or5ac23	A	C	16: 59,149,243 (GRCm39)	S210A	probably benign	Het
Otogl	A	T	10: 107,626,510 (GRCm39)	D1451E	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Ppp1r13l	A	T	7: 19,103,978 (GRCm39)	H153L	probably benign	Het
Pramel21	A	G	4: 143,342,559 (GRCm39)	D222G	possibly damaging	Het
Pramel29	T	C	4: 143,935,265 (GRCm39)	K161E	possibly damaging	Het
Proz	A	G	8: 13,114,621 (GRCm39)	Y85C	probably damaging	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Rad54l2	T	A	9: 106,597,613 (GRCm39)	Q131L	probably benign	Het
Sdha	A	G	13: 74,472,077 (GRCm39)		probably benign	Het
Sema3d	T	A	5: 12,635,091 (GRCm39)	I719N	probably benign	Het
Slc18b1	A	T	10: 23,681,879 (GRCm39)	I148L	probably benign	Het
Tacc2	G	T	7: 130,330,852 (GRCm39)	D2086Y	probably damaging	Het
Tchh	T	C	3: 93,354,298 (GRCm39)	L1246P	unknown	Het
Tmprss11d	T	C	5: 86,457,177 (GRCm39)	I161V	probably benign	Het
Trpc3	T	C	3: 36,725,172 (GRCm39)	D268G	probably damaging	Het
Trpm8	G	A	1: 88,289,727 (GRCm39)	R895H	probably damaging	Het
Txndc2	A	G	17: 65,945,079 (GRCm39)	I366T	possibly damaging	Het
Ugt2a3	T	C	5: 87,484,725 (GRCm39)	I100V	probably benign	Het
Upp1	C	A	11: 9,081,709 (GRCm39)	P82Q	probably damaging	Het
Vim	A	G	2: 13,584,827 (GRCm39)		probably null	Het
Vmn2r12	A	T	5: 109,240,058 (GRCm39)	N168K	possibly damaging	Het
Zdhhc14	G	T	17: 5,802,983 (GRCm39)	C362F	probably damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het
Zswim5	G	A	4: 116,735,177 (GRCm39)	G174D	unknown	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
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
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'- CTAACAGCGTGGTTAGCGTG -3'
(R):5'- CCTGAGGATAGCGTCAAGTAAG -3'

Sequencing Primer
(F):5'- CGTGGTTAGCGTGAAGGAAC -3'
(R):5'- CGACCATCCAGAGTTTGTTCAAAGG -3'

Posted On

2015-05-15