Mutagenetix > Incidental Mutation

Incidental Mutation 'R9511:Il10ra'

718173

Institutional Source

Beutler Lab

Gene Symbol

Il10ra

Ensembl Gene

ENSMUSG00000032089

Gene Name

interleukin 10 receptor, alpha

Synonyms

Il10r, mIL-10R, CDw210

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45165135-45180447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45167690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 289 (E289G)

Ref Sequence

ENSEMBL: ENSMUSP00000034594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034594] [ENSMUST00000176222] [ENSMUST00000176808]

AlphaFold

Q61727

Predicted Effect

probably benign
Transcript: ENSMUST00000034594
AA Change: E289G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: E289G

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	5	114	3.3e-29	PFAM
SCOP:d1lqsr2	125	231	5e-59	SMART
transmembrane domain	239	261	N/A	INTRINSIC
low complexity region	482	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176222
AA Change: E287G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: E287G

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	2	112	3.5e-26	PFAM
SCOP:d1lqsr2	123	229	5e-59	SMART
transmembrane domain	237	259	N/A	INTRINSIC
low complexity region	480	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176808

SMART Domains

Protein: ENSMUSP00000135361
Gene: ENSMUSG00000032089

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for an ENU-generated null allele suffer from a severe inflammatory bowel syndrome. Mice heterozygote for an NZW variant allele have high sera levels of anti-chromatin antibodies. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,278,130 (GRCm39)	S3103R	probably benign	Het
Alg9	A	C	9: 50,717,525 (GRCm39)	Y436S	probably damaging	Het
Ankar	G	A	1: 72,719,161 (GRCm39)	R563C	probably benign	Het
Ankrd34a	C	A	3: 96,505,401 (GRCm39)	R202S	probably benign	Het
Art4	T	A	6: 136,831,613 (GRCm39)	N176I	possibly damaging	Het
Bivm	A	G	1: 44,182,250 (GRCm39)	E486G	possibly damaging	Het
Ccdc168	T	G	1: 44,098,854 (GRCm39)	D748A	probably benign	Het
Ccdc3	C	A	2: 5,143,090 (GRCm39)	Q116K	probably damaging	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdh6	T	C	15: 13,034,677 (GRCm39)	D661G	probably damaging	Het
Chek1	T	C	9: 36,624,747 (GRCm39)	N368S	probably benign	Het
Dnah11	A	T	12: 117,878,352 (GRCm39)	F3924L	probably damaging	Het
Dusp7	T	C	9: 106,248,125 (GRCm39)	I251T	probably damaging	Het
Dysf	T	A	6: 84,090,650 (GRCm39)	W988R	probably damaging	Het
Dzip1l	T	C	9: 99,519,710 (GRCm39)	V79A	possibly damaging	Het
Ebf1	A	G	11: 44,815,393 (GRCm39)	I344V	probably benign	Het
Ern2	T	C	7: 121,776,823 (GRCm39)	E336G	probably benign	Het
Fat4	T	C	3: 39,034,802 (GRCm39)	L2818P	probably damaging	Het
Gjb3	T	C	4: 127,220,131 (GRCm39)	S134G	probably damaging	Het
Gm10647	T	C	9: 66,705,756 (GRCm39)	F108L	unknown	Het
Gm19410	A	T	8: 36,257,848 (GRCm39)	D762V	probably damaging	Het
Gper1	A	G	5: 139,412,138 (GRCm39)	K161R	probably benign	Het
Grin1	A	G	2: 25,187,426 (GRCm39)	M628T	probably damaging	Het
Gsdmc	A	T	15: 63,649,897 (GRCm39)	D331E	probably benign	Het
Haus3	C	A	5: 34,325,571 (GRCm39)	W29C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnma1	T	C	14: 23,361,793 (GRCm39)	T1133A	possibly damaging	Het
Ksr1	G	A	11: 78,924,094 (GRCm39)	T458M	possibly damaging	Het
Mc5r	T	A	18: 68,472,565 (GRCm39)	M308K	possibly damaging	Het
Mis18a	T	C	16: 90,518,525 (GRCm39)	S146G	possibly damaging	Het
Mrpl50	G	A	4: 49,514,501 (GRCm39)	R57*	probably null	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Nanos1	T	A	19: 60,745,413 (GRCm39)	I237N	probably damaging	Het
Ncor1	TGC	TGCGGC	11: 62,324,449 (GRCm39)		probably benign	Het
Ndst3	T	A	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nek10	C	A	14: 14,828,511 (GRCm38)	T111K	probably benign	Het
Nipal2	T	C	15: 34,584,833 (GRCm39)	Y245C	probably damaging	Het
Npat	T	A	9: 53,473,406 (GRCm39)	D399E	probably benign	Het
Opa1	A	G	16: 29,429,738 (GRCm39)	S378G	probably damaging	Het
Or5b102	T	C	19: 13,041,119 (GRCm39)	S115P	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pex16	A	T	2: 92,209,559 (GRCm39)		probably null	Het
Plec	A	T	15: 76,058,897 (GRCm39)	I3680N	probably damaging	Het
Plin3	A	T	17: 56,591,225 (GRCm39)	V185E	probably damaging	Het
Prex1	T	A	2: 166,413,481 (GRCm39)	D1512V	probably damaging	Het
Ptpn22	T	A	3: 103,792,913 (GRCm39)	S355T	probably benign	Het
Ranbp3l	A	G	15: 9,041,991 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,351,611 (GRCm39)	I790T	probably benign	Het
Sema6d	T	C	2: 124,499,943 (GRCm39)	F340L	probably damaging	Het
Slc22a2	A	G	17: 12,828,916 (GRCm39)	T341A	probably damaging	Het
Slc6a6	T	C	6: 91,721,921 (GRCm39)	Y374H	probably damaging	Het
Slitrk3	T	G	3: 72,958,272 (GRCm39)	S167R	possibly damaging	Het
Smchd1	G	A	17: 71,750,899 (GRCm39)	H340Y	possibly damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Sox9	A	G	11: 112,676,001 (GRCm39)	T397A	possibly damaging	Het
Tnpo1	C	A	13: 99,003,621 (GRCm39)	R245L	possibly damaging	Het
Traip	T	A	9: 107,838,785 (GRCm39)	M183K	probably damaging	Het
Trpc6	A	T	9: 8,680,419 (GRCm39)	E882D	probably benign	Het
Uba6	C	A	5: 86,288,219 (GRCm39)	G491V	probably damaging	Het
Uqcrfs1	A	T	13: 30,729,037 (GRCm39)	V65E	probably benign	Het
Urgcp	T	C	11: 5,668,128 (GRCm39)	D113G	probably damaging	Het
Wdr76	C	T	2: 121,372,976 (GRCm39)	T503M	probably damaging	Het
Zfp27	T	C	7: 29,593,641 (GRCm39)	T775A	possibly damaging	Het
Zfp518b	A	T	5: 38,829,395 (GRCm39)	V870E	possibly damaging	Het
Zfp932	T	A	5: 110,155,177 (GRCm39)	H63Q	possibly damaging	Het
Zkscan6	C	A	11: 65,712,817 (GRCm39)	T250N	probably damaging	Het
Zmat2	A	T	18: 36,930,958 (GRCm39)	K161N	possibly damaging	Het
Zyg11a	A	G	4: 108,062,420 (GRCm39)	L127P	probably damaging	Het

Other mutations in Il10ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01874:Il10ra	APN	9	45,178,458 (GRCm39)	missense	probably damaging	1.00
IGL01916:Il10ra	APN	9	45,167,444 (GRCm39)	missense	probably damaging	1.00
IGL03067:Il10ra	APN	9	45,167,157 (GRCm39)	missense	probably benign	0.01
R0081:Il10ra	UTSW	9	45,167,247 (GRCm39)	missense	probably benign	0.04
R0266:Il10ra	UTSW	9	45,176,950 (GRCm39)	missense	probably benign	0.11
R1734:Il10ra	UTSW	9	45,167,241 (GRCm39)	missense	probably benign	0.02
R1901:Il10ra	UTSW	9	45,167,654 (GRCm39)	missense	probably benign	0.39
R1991:Il10ra	UTSW	9	45,167,109 (GRCm39)	missense	probably benign	0.28
R2103:Il10ra	UTSW	9	45,167,109 (GRCm39)	missense	probably benign	0.28
R2218:Il10ra	UTSW	9	45,176,914 (GRCm39)	missense	probably benign
R4686:Il10ra	UTSW	9	45,180,357 (GRCm39)	missense	probably damaging	1.00
R4908:Il10ra	UTSW	9	45,166,919 (GRCm39)	missense	probably benign	0.21
R4982:Il10ra	UTSW	9	45,180,357 (GRCm39)	missense	probably damaging	1.00
R5590:Il10ra	UTSW	9	45,176,924 (GRCm39)	nonsense	probably null
R5739:Il10ra	UTSW	9	45,167,368 (GRCm39)	missense	possibly damaging	0.65
R5872:Il10ra	UTSW	9	45,166,951 (GRCm39)	missense	possibly damaging	0.92
R6053:Il10ra	UTSW	9	45,167,601 (GRCm39)	missense	probably damaging	0.99
R6282:Il10ra	UTSW	9	45,171,703 (GRCm39)	missense	probably damaging	0.98
R6798:Il10ra	UTSW	9	45,167,730 (GRCm39)	missense	probably damaging	0.99
R7060:Il10ra	UTSW	9	45,167,522 (GRCm39)	missense	probably benign	0.00
R7561:Il10ra	UTSW	9	45,167,117 (GRCm39)	missense	probably benign	0.00
R7630:Il10ra	UTSW	9	45,167,369 (GRCm39)	missense	probably damaging	1.00
R7709:Il10ra	UTSW	9	45,171,697 (GRCm39)	missense	probably benign	0.01
R8880:Il10ra	UTSW	9	45,175,631 (GRCm39)	missense	probably damaging	1.00
R8939:Il10ra	UTSW	9	45,177,802 (GRCm39)	missense	unknown
R9069:Il10ra	UTSW	9	45,167,396 (GRCm39)	missense	probably damaging	0.98
Z1176:Il10ra	UTSW	9	45,177,930 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGAGTCCCCTGTATCTGGG -3'
(R):5'- AGGCAGCCACACTTCTCTC -3'

Sequencing Primer
(F):5'- TATCTGGGGGTGGGAGCCAG -3'
(R):5'- TGGGGTAGCATCACATTCAC -3'

Posted On

2022-07-18