Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Il10ra'

484241

Institutional Source

Beutler Lab

Gene Symbol

Il10ra

Ensembl Gene

ENSMUSG00000032089

Gene Name

interleukin 10 receptor, alpha

Synonyms

Il10r, mIL-10R, CDw210

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45165135-45180447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45167601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 319 (D319N)

Ref Sequence

ENSEMBL: ENSMUSP00000034594 (fasta)

Gene Model

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

AlphaFold

Q61727

Predicted Effect

probably damaging
Transcript: ENSMUST00000034594
AA Change: D319N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: D319N

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: D317N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: D317N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	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
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'- GTCCTGATGGGTATATCCAAGC -3'
(R):5'- CAACAATCATCATGCTATTCCTGC -3'

Sequencing Primer
(F):5'- ATGGGTATATCCAAGCTGCTGC -3'
(R):5'- AATCATCATGCTATTCCTGCCTCTC -3'

Posted On

2017-07-14