Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Il10rb'

328131

Institutional Source

Beutler Lab

Gene Symbol

Il10rb

Ensembl Gene

ENSMUSG00000022969

Gene Name

interleukin 10 receptor, beta

Synonyms

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

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91203166-91222718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91204603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 51 (N51K)

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

possibly damaging
Transcript: ENSMUST00000023691
AA Change: N51K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023691
Gene: ENSMUSG00000022969
AA Change: N51K

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: N50K

SMART Domains

Protein: ENSMUSP00000120485
Gene: ENSMUSG00000022969
AA Change: N50K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152729

Predicted Effect

probably benign
Transcript: ENSMUST00000156133

SMART Domains

Protein: ENSMUSP00000120227
Gene: ENSMUSG00000022969

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

Predicted Effect

unknown
Transcript: ENSMUST00000160764
AA Change: N137K

SMART Domains

Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: N137K

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

Meta Mutation Damage Score

0.2542

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,236,870 (GRCm39)	T1456A	probably damaging	Het
Acad11	T	C	9: 103,950,844 (GRCm39)	F56S	probably damaging	Het
Adamts8	A	G	9: 30,867,952 (GRCm39)	N592S	possibly damaging	Het
Amh	A	G	10: 80,642,755 (GRCm39)	D313G	probably damaging	Het
Ampd2	T	C	3: 107,994,052 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,111,653 (GRCm39)	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cd163	T	C	6: 124,304,862 (GRCm39)	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,480,433 (GRCm39)	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfh	A	T	1: 140,028,613 (GRCm39)	Y688*	probably null	Het
Chrnb1	A	T	11: 69,677,773 (GRCm39)	S326R	probably damaging	Het
Cngb1	C	T	8: 96,026,344 (GRCm39)	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,079,136 (GRCm39)	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,448,800 (GRCm39)		probably benign	Het
Eef1d	C	A	15: 75,774,648 (GRCm39)	S253I	possibly damaging	Het
Efl1	G	A	7: 82,412,491 (GRCm39)	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Epb41l2	C	A	10: 25,382,078 (GRCm39)	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699 (GRCm39)		probably null	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Igkv10-95	A	T	6: 68,657,606 (GRCm39)	I21F	probably damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lrig3	T	C	10: 125,849,273 (GRCm39)	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,755,755 (GRCm39)	M510K	probably benign	Het
Nfrkb	G	T	9: 31,311,258 (GRCm39)	C369F	probably damaging	Het
Nphp1	T	C	2: 127,630,719 (GRCm39)	E19G	possibly damaging	Het
Or10a5	A	C	7: 106,635,698 (GRCm39)	E112A	probably damaging	Het
Or4f14b	T	C	2: 111,775,534 (GRCm39)	H89R	probably benign	Het
Ovol3	A	T	7: 29,934,789 (GRCm39)		probably null	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Rims2	T	C	15: 39,301,320 (GRCm39)		probably null	Het
Sh3rf3	T	C	10: 58,919,398 (GRCm39)	V505A	probably benign	Het
Shkbp1	T	C	7: 27,042,727 (GRCm39)	N570S	probably benign	Het
Slc35f4	C	T	14: 49,556,307 (GRCm39)	V149I	possibly damaging	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tagap1	G	A	17: 7,223,511 (GRCm39)	S395L	probably benign	Het
Tcstv2b	C	A	13: 120,373,908 (GRCm39)	L127F	probably damaging	Het
Tek	A	G	4: 94,751,904 (GRCm39)	T1014A	probably damaging	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpo	T	C	12: 30,154,015 (GRCm39)	Y230C	probably damaging	Het
Trav12-2	A	G	14: 53,854,332 (GRCm39)	Q102R	possibly damaging	Het
Ttn	G	A	2: 76,733,430 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,973 (GRCm39)	I259F	probably benign	Het
Vmn1r228	T	C	17: 20,996,861 (GRCm39)	E219G	probably damaging	Het
Vsig8	G	T	1: 172,390,714 (GRCm39)	G254V	probably damaging	Het
Vwa8	A	G	14: 79,320,246 (GRCm39)	I1086V	probably benign	Het
Zfp423	G	A	8: 88,509,601 (GRCm39)	H123Y	probably damaging	Het
Zfp811	A	T	17: 33,016,521 (GRCm39)	C506*	probably null	Het

Other mutations in Il10rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Il10rb	APN	16	91,203,227 (GRCm39)	missense	probably benign	0.11
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGATCTGAGAGACCCAAATATTG -3'
(R):5'- TAACTGGGAGTAACAGCGGC -3'

Sequencing Primer
(F):5'- AGTCGTTTTCTTGGATTTAGTGTTTG -3'
(R):5'- GTAACAGCGGCACCTGCTTTC -3'

Posted On

2015-07-07