Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Il10ra'

384924

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 #

R4982 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

45165135-45180447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45180357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 5 (L5S)

Ref Sequence

ENSEMBL: ENSMUSP00000135461 (fasta)

Gene Model

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

AlphaFold

Q61727

Predicted Effect

probably damaging
Transcript: ENSMUST00000034594
AA Change: L5S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: L5S

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 damaging
Transcript: ENSMUST00000176222
AA Change: L5S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: L5S

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

unknown
Transcript: ENSMUST00000176808
AA Change: L5S

SMART Domains

Protein: ENSMUSP00000135361
Gene: ENSMUSG00000032089
AA Change: L5S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183683

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,348 (GRCm39)	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,726,057 (GRCm39)	S287P	probably damaging	Het
Atxn2	G	T	5: 121,952,406 (GRCm39)	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,920,639 (GRCm39)		probably null	Het
Bbs2	A	G	8: 94,808,982 (GRCm39)		probably null	Het
Bcl11b	A	T	12: 107,932,031 (GRCm39)	C180*	probably null	Het
Bltp3a	T	C	17: 28,105,580 (GRCm39)	F702S	probably benign	Het
Bod1l	A	G	5: 41,977,816 (GRCm39)	V1166A	probably benign	Het
Bora	C	T	14: 99,284,788 (GRCm39)	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,449,075 (GRCm39)	E24G	probably benign	Het
Ccne1	A	T	7: 37,799,996 (GRCm39)	I196N	probably damaging	Het
Chsy3	C	T	18: 59,542,647 (GRCm39)	S595L	probably benign	Het
Chsy3	T	A	18: 59,542,839 (GRCm39)	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,202,188 (GRCm39)		probably null	Het
Col5a2	G	A	1: 45,428,618 (GRCm39)	P983S	possibly damaging	Het
Crat	T	A	2: 30,297,148 (GRCm39)		probably null	Het
Ctnnbl1	C	T	2: 157,678,473 (GRCm39)	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,085,732 (GRCm39)	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,593,902 (GRCm39)	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,576,801 (GRCm39)	C86R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Fam171a1	G	A	2: 3,179,505 (GRCm39)		probably null	Het
Fam222b	T	C	11: 78,045,569 (GRCm39)	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,531,719 (GRCm39)		probably benign	Het
Fes	T	C	7: 80,036,952 (GRCm39)	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,684,933 (GRCm39)	V51A	probably benign	Het
Gpr75	C	T	11: 30,841,463 (GRCm39)	L123F	possibly damaging	Het
Gpr75	C	A	11: 30,841,462 (GRCm39)	H122Q	probably damaging	Het
Greb1	A	G	12: 16,774,762 (GRCm39)	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512 (GRCm39)	H1041R	probably benign	Het
Ifna5	A	G	4: 88,753,861 (GRCm39)	N34D	probably damaging	Het
Ift140	A	T	17: 25,255,968 (GRCm39)	H221L	probably damaging	Het
Igsf3	T	C	3: 101,342,983 (GRCm39)	V540A	probably benign	Het
Klra2	A	T	6: 131,197,152 (GRCm39)	D282E	probably benign	Het
Lyst	T	A	13: 13,900,539 (GRCm39)	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,046,940 (GRCm39)	T1689A	probably benign	Het
Mon2	A	T	10: 122,831,694 (GRCm39)	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,720,528 (GRCm39)	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332 (GRCm39)	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,363,193 (GRCm39)		probably benign	Het
Mybbp1a	T	C	11: 72,336,040 (GRCm39)	I451T	probably damaging	Het
Myh7	T	A	14: 55,210,224 (GRCm39)	E1827V	probably damaging	Het
Or1j14	A	T	2: 36,417,409 (GRCm39)		probably null	Het
Or2h15	A	T	17: 38,441,468 (GRCm39)	I205N	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,855 (GRCm39)	Y197*	probably null	Het
Or8b8	C	A	9: 37,808,811 (GRCm39)	T37N	probably damaging	Het
Os9	C	T	10: 126,956,920 (GRCm39)	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607 (GRCm39)	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,802,476 (GRCm39)	N107D	probably benign	Het
Pclo	C	T	5: 14,729,308 (GRCm39)		probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phtf1	T	A	3: 103,906,024 (GRCm39)	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,703,197 (GRCm39)	L913R	probably damaging	Het
Pld1	C	A	3: 28,085,447 (GRCm39)	A201D	probably damaging	Het
Rorb	T	A	19: 18,955,052 (GRCm39)	Q103L	probably benign	Het
Sec24d	C	T	3: 123,093,255 (GRCm39)	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,085,484 (GRCm39)	I86V	probably benign	Het
Serpinb6a	A	T	13: 34,102,857 (GRCm39)	M201K	probably damaging	Het
Snx8	A	G	5: 140,337,989 (GRCm39)	S219P	probably benign	Het
Sp8	C	T	12: 118,812,160 (GRCm39)	T5I	probably damaging	Het
Tanc1	A	G	2: 59,630,287 (GRCm39)	N749D	probably damaging	Het
Tarm1	G	C	7: 3,537,612 (GRCm39)	P284A	probably damaging	Het
Tbx15	A	T	3: 99,161,390 (GRCm39)	E65V	probably benign	Het
Ticam1	T	A	17: 56,579,020 (GRCm39)	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,640,674 (GRCm39)	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,414,504 (GRCm39)	*310W	probably null	Het
Tsks	C	T	7: 44,593,418 (GRCm39)	T128I	possibly damaging	Het
Vmn1r175	A	T	7: 23,508,494 (GRCm39)	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,910,847 (GRCm39)	I41T	probably damaging	Het
Ythdc2	A	G	18: 45,004,532 (GRCm39)	N1102S	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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
R9511:Il10ra	UTSW	9	45,167,690 (GRCm39)	missense	probably benign	0.06
Z1176:Il10ra	UTSW	9	45,177,930 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CTTAAACAGCAGGTGAGCCG -3'
(R):5'- CAGAACTAGCTAGACTTCGCTG -3'

Sequencing Primer
(F):5'- GGAGACCGTTTTGCCAGCATG -3'
(R):5'- TAGACTTCGCTGCCTGCTGAG -3'

Posted On

2016-05-10