Mutagenetix > Incidental Mutation

Incidental Mutation 'R5739:Il10ra'

444692

Institutional Source

Beutler Lab

Gene Symbol

Il10ra

Ensembl Gene

ENSMUSG00000032089

Gene Name

interleukin 10 receptor, alpha

Synonyms

Il10r, mIL-10R, CDw210

MMRRC Submission

043351-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45165135-45180447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45167368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 394 (D394E)

Ref Sequence

ENSEMBL: ENSMUSP00000135461 (fasta)

Gene Model

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

AlphaFold

Q61727

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034594
AA Change: D396E

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: D396E

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

possibly damaging
Transcript: ENSMUST00000176222
AA Change: D394E

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: D394E

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

noncoding transcript
Transcript: ENSMUST00000176318

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

Meta Mutation Damage Score

0.0969

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (82/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,220,717 (GRCm39)	S50T	probably benign	Het
A930011G23Rik	A	G	5: 99,369,289 (GRCm39)	L529P	probably damaging	Het
Acer2	A	T	4: 86,818,792 (GRCm39)	N147Y	probably damaging	Het
Adamtsl1	A	G	4: 86,150,901 (GRCm39)	E353G	probably damaging	Het
Alg6	T	C	4: 99,632,737 (GRCm39)	F60L	probably benign	Het
Ano6	A	T	15: 95,811,260 (GRCm39)	D120V	probably damaging	Het
Armc3	A	G	2: 19,258,728 (GRCm39)	D265G	possibly damaging	Het
Aurkc	A	T	7: 7,005,859 (GRCm39)	Y249F	probably benign	Het
Bmal1	G	A	7: 112,884,238 (GRCm39)	R92Q	probably damaging	Het
Cacna2d2	A	G	9: 107,389,528 (GRCm39)	I274V	probably benign	Het
Camk2n2	C	A	16: 20,439,830 (GRCm39)	G39C	probably damaging	Het
Ccdc39	A	G	3: 33,880,710 (GRCm39)	L419P	possibly damaging	Het
Cdh23	T	C	10: 60,141,388 (GRCm39)	M3117V	probably damaging	Het
Celsr3	A	G	9: 108,704,357 (GRCm39)	E280G	probably benign	Het
Cherp	TGCTGGTGGTGGGG	TG	8: 73,221,659 (GRCm39)		probably benign	Het
Clcn6	A	G	4: 148,098,646 (GRCm39)	V494A	probably damaging	Het
Col19a1	C	T	1: 24,376,996 (GRCm39)	G450S	probably damaging	Het
Crb2	T	G	2: 37,683,666 (GRCm39)	V1056G	probably damaging	Het
Crtac1	A	G	19: 42,290,612 (GRCm39)	F363S	probably damaging	Het
Dipk2a	A	T	9: 94,402,594 (GRCm39)	V356E	possibly damaging	Het
Dnaaf2	T	C	12: 69,243,715 (GRCm39)	S449G	probably benign	Het
Dnah7b	A	T	1: 46,273,152 (GRCm39)	I2427F	probably damaging	Het
Dnah8	T	A	17: 30,937,981 (GRCm39)	D1619E	probably benign	Het
Dock3	A	T	9: 106,850,995 (GRCm39)	S836T	possibly damaging	Het
Donson	A	T	16: 91,478,117 (GRCm39)		probably null	Het
Drc3	G	A	11: 60,265,956 (GRCm39)	R215H	possibly damaging	Het
Entpd2	T	C	2: 25,289,504 (GRCm39)	S329P	possibly damaging	Het
Eya2	T	C	2: 165,603,857 (GRCm39)	S332P	probably damaging	Het
Fam83f	T	A	15: 80,576,206 (GRCm39)	Y286N	probably damaging	Het
Fat4	T	C	3: 39,037,283 (GRCm39)	V3645A	probably benign	Het
G2e3	T	C	12: 51,419,287 (GRCm39)	F668L	possibly damaging	Het
Gm14403	T	A	2: 177,201,040 (GRCm39)	C329S	probably damaging	Het
Hmcn1	G	A	1: 150,684,448 (GRCm39)	T374I	probably benign	Het
Hmcn1	A	T	1: 150,634,225 (GRCm39)		probably null	Het
Hrnr	T	C	3: 93,230,436 (GRCm39)	S225P	unknown	Het
Ifi202b	C	T	1: 173,798,918 (GRCm39)		probably null	Het
Itga2b	A	T	11: 102,356,735 (GRCm39)	D275E	probably benign	Het
Jaml	A	T	9: 45,000,026 (GRCm39)	D108V	probably damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrrtm1	T	C	6: 77,221,872 (GRCm39)	V443A	probably damaging	Het
Mkln1	T	A	6: 31,473,637 (GRCm39)	S126R	probably benign	Het
Myo19	T	C	11: 84,788,450 (GRCm39)	I354T	probably damaging	Het
Nucb1	A	T	7: 45,151,084 (GRCm39)	L99Q	probably damaging	Het
Or4f59	A	G	2: 111,873,128 (GRCm39)	F83S	probably damaging	Het
Pask	A	G	1: 93,249,778 (GRCm39)	S541P	probably benign	Het
Pdpr	A	T	8: 111,861,252 (GRCm39)	I749F	possibly damaging	Het
Pgap6	T	A	17: 26,339,425 (GRCm39)	F580I	probably damaging	Het
Phyhipl	T	C	10: 70,395,399 (GRCm39)	D269G	possibly damaging	Het
Pkdcc	A	G	17: 83,523,223 (GRCm39)	D110G	probably benign	Het
Ppox	A	G	1: 171,107,570 (GRCm39)	L115P	probably damaging	Het
Ppp1r12c	A	G	7: 4,500,281 (GRCm39)	L94P	probably damaging	Het
Ppp6r2	T	A	15: 89,143,276 (GRCm39)	M141K	probably benign	Het
Prl3d1	A	T	13: 27,283,995 (GRCm39)	H188L	probably benign	Het
Psmb3	T	A	11: 97,604,296 (GRCm39)		probably benign	Het
Pxdn	T	A	12: 30,032,333 (GRCm39)	S150T	probably benign	Het
Ripor3	T	C	2: 167,823,203 (GRCm39)	T903A	probably damaging	Het
Rnase4	T	C	14: 51,342,306 (GRCm39)	L10S	probably benign	Het
Rnf224	T	C	2: 25,126,012 (GRCm39)	T114A	probably benign	Het
Rp1l1	A	T	14: 64,269,619 (GRCm39)	E1735V	probably benign	Het
Rrp1b	T	A	17: 32,264,950 (GRCm39)	Y60N	probably damaging	Het
Rsbn1l	A	T	5: 21,110,814 (GRCm39)	V508E	probably damaging	Het
Rubcnl	T	C	14: 75,278,381 (GRCm39)		probably null	Het
Rxfp4	A	G	3: 88,559,209 (GRCm39)		probably benign	Het
Sdccag8	A	G	1: 176,653,797 (GRCm39)	T85A	probably benign	Het
Slc46a1	A	T	11: 78,357,975 (GRCm39)	I343F	possibly damaging	Het
Ssh2	A	G	11: 77,340,639 (GRCm39)	D597G	probably damaging	Het
Syne2	T	A	12: 76,044,239 (GRCm39)	V3942E	possibly damaging	Het
Timd4	T	C	11: 46,708,573 (GRCm39)	S200P	probably benign	Het
Tmc5	G	A	7: 118,265,834 (GRCm39)		probably null	Het
Trbv16	A	G	6: 41,129,013 (GRCm39)	T66A	probably benign	Het
Ttc3	A	T	16: 94,240,183 (GRCm39)	K1103*	probably null	Het
Ttc7b	A	G	12: 100,350,492 (GRCm39)	V458A	probably damaging	Het
Ubxn10	A	G	4: 138,448,134 (GRCm39)	S181P	probably benign	Het
Vmn2r11	A	G	5: 109,207,114 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,002,925 (GRCm39)	N112Y	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zc3h10	T	C	10: 128,380,670 (GRCm39)	N229S	probably benign	Het
Zfp407	T	C	18: 84,226,867 (GRCm39)	*2247W	probably null	Het
Zfyve1	C	A	12: 83,621,910 (GRCm39)	V162L	possibly 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
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'- GGGAATCTCTTCGTCCAAGC -3'
(R):5'- GAAGAGTCCCAATTCCTCCTC -3'

Sequencing Primer
(F):5'- GGAATCTCTTCGTCCAAGCATTCTG -3'
(R):5'- GTCCCAATTCCTCCTCCCTGG -3'

Posted On

2016-11-21