Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00337:Il10rb'

11434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il10rb

Ensembl Gene

ENSMUSG00000022969

Gene Name

interleukin 10 receptor, beta

Synonyms

6620401D04Rik, D21S58h, Il10r2, CRF2-4, D16H21S58, Crfb4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00337

Quality Score

Status

Chromosome

Chromosomal Location

91203166-91222718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91203227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 8 (A8T)

Ref Sequence

ENSEMBL: ENSMUSP00000023691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023691] [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000156133]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023691
AA Change: A8T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023691
Gene: ENSMUSG00000022969
AA Change: A8T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	23	100	4.6e-2	SMART
FN3	114	204	7.1e-3	SMART
transmembrane domain	228	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023693

SMART Domains

Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	118	8.9e-18	PFAM
Pfam:Interfer-bind	132	231	9.2e-19	PFAM
low complexity region	315	326	N/A	INTRINSIC
low complexity region	361	389	N/A	INTRINSIC
low complexity region	476	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089042

SMART Domains

Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	9	118	2.9e-18	PFAM
Pfam:Interfer-bind	132	231	1.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137612

Predicted Effect

unknown
Transcript: ENSMUST00000144215
AA Change: A7T

SMART Domains

Protein: ENSMUSP00000120485
Gene: ENSMUSG00000022969
AA Change: A7T

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	7	65	1.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152729

Predicted Effect

unknown
Transcript: ENSMUST00000156133
AA Change: A8T

SMART Domains

Protein: ENSMUSP00000120227
Gene: ENSMUSG00000022969
AA Change: A8T

Domain	Start	End	E-Value	Type
low complexity region	39	48	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160764

SMART Domains

Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701

Domain	Start	End	E-Value	Type
FN3	2	92	5.1e1	SMART
FN3	110	187	9.09e0	SMART
FN3	201	291	1.39e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161517

SMART Domains

Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701

Domain	Start	End	E-Value	Type
Pfam:Interfer-bind	1	100	7.5e-20	PFAM

Coding Region Coverage

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 belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a knock-out allele develop moderate to severe colitis without small intestinal involvement and splenomegaly with a hyperproliferative splenic red pulp. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1ar	A	T	3: 127,614,401 (GRCm39)		probably benign	Het
Ap1ar	A	C	3: 127,614,400 (GRCm39)		probably benign	Het
Apip	A	T	2: 102,922,257 (GRCm39)	T208S	probably benign	Het
Arhgap11a	A	G	2: 113,672,287 (GRCm39)	V227A	probably damaging	Het
Atrn	G	T	2: 130,799,999 (GRCm39)	V459F	probably damaging	Het
Cep295	T	C	9: 15,237,368 (GRCm39)		probably null	Het
Cfhr1	A	G	1: 139,484,253 (GRCm39)		probably benign	Het
D5Ertd615e	A	G	5: 45,320,769 (GRCm39)		noncoding transcript	Het
Dhx29	A	G	13: 113,101,137 (GRCm39)	I1227V	probably benign	Het
Fam98a	T	C	17: 75,858,742 (GRCm39)	D16G	probably damaging	Het
Frk	A	G	10: 34,360,239 (GRCm39)	D80G	probably damaging	Het
Gabbr2	A	T	4: 46,787,600 (GRCm39)	H354Q	probably damaging	Het
Ggps1	G	A	13: 14,228,973 (GRCm39)	S70L	probably damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Hpx	T	C	7: 105,240,977 (GRCm39)	Y432C	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Ing5	G	T	1: 93,733,816 (GRCm39)	M1I	probably null	Het
Kcnc4	C	T	3: 107,355,189 (GRCm39)	D420N	probably benign	Het
Kcnj8	T	C	6: 142,515,961 (GRCm39)	N49D	probably damaging	Het
Kif26b	C	A	1: 178,743,213 (GRCm39)	A656D	probably damaging	Het
Klc4	T	C	17: 46,946,361 (GRCm39)	E488G	probably damaging	Het
Mtmr4	C	T	11: 87,502,750 (GRCm39)	H878Y	probably benign	Het
Ndufaf7	T	C	17: 79,254,520 (GRCm39)		probably benign	Het
Nlrp14	T	G	7: 106,781,308 (GRCm39)	D168E	possibly damaging	Het
Ogdhl	T	C	14: 32,055,669 (GRCm39)	F251S	probably damaging	Het
Or1p1	T	C	11: 74,180,213 (GRCm39)	V247A	probably damaging	Het
P2rx5	A	T	11: 73,058,318 (GRCm39)		probably null	Het
Parp14	G	A	16: 35,661,445 (GRCm39)	T1501I	probably benign	Het
Prl3c1	C	A	13: 27,384,746 (GRCm39)	T85K	probably damaging	Het
Psg27	A	G	7: 18,295,729 (GRCm39)	Y239H	probably damaging	Het
Pzp	T	C	6: 128,493,872 (GRCm39)	R300G	probably benign	Het
Sec16a	A	G	2: 26,329,499 (GRCm39)	S839P	probably benign	Het
Sphkap	T	A	1: 83,317,329 (GRCm39)	D56V	probably damaging	Het
Srrt	C	T	5: 137,294,240 (GRCm39)		probably benign	Het
Sstr3	T	A	15: 78,424,667 (GRCm39)	T27S	probably benign	Het
Taf1d	C	A	9: 15,222,899 (GRCm39)	S255Y	probably damaging	Het
Tbc1d15	C	A	10: 115,045,546 (GRCm39)	E473*	probably null	Het
Tmem247	T	C	17: 87,224,963 (GRCm39)	V24A	probably benign	Het
Txnrd2	T	C	16: 18,296,519 (GRCm39)	C494R	probably damaging	Het
Zfp180	A	G	7: 23,784,894 (GRCm39)	D5G	probably damaging	Het

Other mutations in Il10rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0393:Il10rb	UTSW	16	91,208,898 (GRCm39)	missense	probably benign	0.13
R1013:Il10rb	UTSW	16	91,211,581 (GRCm39)	missense	probably benign	0.00
R1444:Il10rb	UTSW	16	91,218,675 (GRCm39)	splice site	probably null
R2449:Il10rb	UTSW	16	91,208,791 (GRCm39)	missense	probably benign
R4425:Il10rb	UTSW	16	91,204,603 (GRCm39)	missense	possibly damaging	0.93
R4779:Il10rb	UTSW	16	91,211,545 (GRCm39)	missense	possibly damaging	0.54
R6051:Il10rb	UTSW	16	91,218,752 (GRCm39)	missense	probably benign	0.05

Posted On

2012-12-06