Mutagenetix > Incidental Mutation

Incidental Mutation 'R7828:Il27ra'

602442

Institutional Source

Beutler Lab

Gene Symbol

Il27ra

Ensembl Gene

ENSMUSG00000005465

Gene Name

interleukin 27 receptor, alpha

Synonyms

WSX-1, IL-27R, Tccr

MMRRC Submission

045882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7828 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84756923-84769218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84758187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 521 (L521S)

Ref Sequence

ENSEMBL: ENSMUSP00000005601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005601] [ENSMUST00000055077]

AlphaFold

O70394

Predicted Effect

probably damaging
Transcript: ENSMUST00000005601
AA Change: L521S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: L521S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:FN3	31	101	2e-6	BLAST
FN3	123	210	3.85e-3	SMART
FN3	314	396	3.78e0	SMART
Blast:FN3	411	492	4e-36	BLAST
low complexity region	516	532	N/A	INTRINSIC
low complexity region	584	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055077

SMART Domains

Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986

Domain	Start	End	E-Value	Type
coiled coil region	19	64	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
coiled coil region	90	116	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
low complexity region	248	261	N/A	INTRINSIC
low complexity region	277	293	N/A	INTRINSIC
low complexity region	337	349	N/A	INTRINSIC
low complexity region	399	416	N/A	INTRINSIC
low complexity region	635	647	N/A	INTRINSIC
low complexity region	707	720	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: T helper 1 response and responses to parasitic and bacterial infection are altered in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,254,904 (GRCm39)	T869A	probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arid1b	C	A	17: 5,147,943 (GRCm39)	P615Q	probably damaging	Het
Asb16	C	A	11: 102,168,753 (GRCm39)	Q410K	probably benign	Het
Ash2l	T	C	8: 26,313,214 (GRCm39)	E335G	possibly damaging	Het
AU041133	C	T	10: 81,987,054 (GRCm39)	H236Y	probably damaging	Het
Bhmt	T	A	13: 93,754,156 (GRCm39)	Y351F	possibly damaging	Het
Birc6	T	C	17: 74,886,501 (GRCm39)	S610P	probably damaging	Het
Cab39l	T	C	14: 59,737,159 (GRCm39)		probably null	Het
Cdc7	A	T	5: 107,120,816 (GRCm39)	Q146L	possibly damaging	Het
Cdk18	T	C	1: 132,044,642 (GRCm39)	H328R	possibly damaging	Het
Cdsn	T	C	17: 35,865,878 (GRCm39)	S136P	unknown	Het
Ces3b	T	A	8: 105,813,228 (GRCm39)	L203Q	probably damaging	Het
Cgn	A	G	3: 94,676,489 (GRCm39)	V840A	probably damaging	Het
Ctse	T	C	1: 131,590,491 (GRCm39)	L71P	probably damaging	Het
Ears2	G	T	7: 121,647,563 (GRCm39)	S240R	probably benign	Het
Edem3	A	G	1: 151,687,386 (GRCm39)	I756V	possibly damaging	Het
Epas1	T	C	17: 87,135,127 (GRCm39)	Y587H	probably benign	Het
Fcamr	G	T	1: 130,739,443 (GRCm39)	A248S	probably damaging	Het
Gm14496	G	A	2: 181,633,171 (GRCm39)	W51*	probably null	Het
Hfm1	A	T	5: 107,029,657 (GRCm39)		probably null	Het
Hhip	T	C	8: 80,724,837 (GRCm39)	I312V	probably benign	Het
Hmcn2	C	A	2: 31,295,887 (GRCm39)	N2658K	possibly damaging	Het
Iars1	T	A	13: 49,878,748 (GRCm39)	M948K	probably benign	Het
Itpr1	A	G	6: 108,459,892 (GRCm39)	D2062G	probably damaging	Het
Jag2	G	T	12: 112,876,800 (GRCm39)	R784S	probably benign	Het
Maea	T	A	5: 33,517,722 (GRCm39)	D87E	probably benign	Het
Man2a2	A	G	7: 80,016,674 (GRCm39)	I380T	probably damaging	Het
Mprip	G	T	11: 59,627,915 (GRCm39)	G253W	probably damaging	Het
Naglu	G	A	11: 100,967,436 (GRCm39)	R462H	probably damaging	Het
Nrxn1	T	A	17: 90,366,979 (GRCm39)	I342F	probably damaging	Het
Oosp1	C	A	19: 11,668,369 (GRCm39)	V5L	probably benign	Het
Or10q3	A	T	19: 11,848,169 (GRCm39)	M137K	probably damaging	Het
Or5b113	G	A	19: 13,342,510 (GRCm39)	V173I	probably benign	Het
Or6c74	A	G	10: 129,869,756 (GRCm39)	D87G	probably damaging	Het
Or7g12	T	C	9: 18,900,216 (GRCm39)	S311P	probably benign	Het
Pbrm1	T	C	14: 30,752,848 (GRCm39)	M95T	probably damaging	Het
Pcdh17	C	G	14: 84,770,425 (GRCm39)	R968G	probably damaging	Het
Pcdhb7	T	G	18: 37,476,915 (GRCm39)	S684A	probably damaging	Het
Polr1b	T	G	2: 128,947,200 (GRCm39)	I175R	probably damaging	Het
Ppp3ca	A	G	3: 136,503,535 (GRCm39)	D36G	probably damaging	Het
Prr14l	G	A	5: 33,001,735 (GRCm39)		probably benign	Het
Rcn2	A	T	9: 55,960,266 (GRCm39)	I178F	probably benign	Het
Sbspon	T	G	1: 15,930,543 (GRCm39)	K148Q	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setd7	T	A	3: 51,444,078 (GRCm39)		probably null	Het
Sh2d5	C	A	4: 137,984,108 (GRCm39)	P85T	probably benign	Het
Slc12a1	T	A	2: 125,008,602 (GRCm39)	V204D	possibly damaging	Het
Slc2a8	G	A	2: 32,870,080 (GRCm39)	R154*	probably null	Het
Slc36a3	C	T	11: 55,042,024 (GRCm39)	G42S	probably benign	Het
Spink5	A	G	18: 44,143,296 (GRCm39)	K751R	probably benign	Het
Sult2a5	T	A	7: 13,362,768 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,852,306 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,805,381 (GRCm39)	S153P	probably damaging	Het
Ubap2	A	T	4: 41,221,615 (GRCm39)	L228Q	probably benign	Het
Upk3b	G	A	5: 136,068,993 (GRCm39)	G121S	possibly damaging	Het
Usp1	T	A	4: 98,820,544 (GRCm39)	S456R	probably damaging	Het
Usp28	A	T	9: 48,915,202 (GRCm39)	N126Y	possibly damaging	Het
Wdfy4	C	T	14: 32,710,878 (GRCm39)	V2411M	possibly damaging	Het
Zfp595	C	T	13: 67,465,769 (GRCm39)	E165K	probably damaging	Het

Other mutations in Il27ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:Il27ra	APN	8	84,758,164 (GRCm39)	missense	probably benign	0.01
IGL03096:Il27ra	APN	8	84,758,161 (GRCm39)	missense	probably damaging	1.00
IGL03334:Il27ra	APN	8	84,757,751 (GRCm39)	missense	probably benign	0.08
angel	UTSW	8	84,758,773 (GRCm39)	critical splice acceptor site	probably null
Gabriel	UTSW	8	84,760,614 (GRCm39)	missense	probably damaging	0.97
Hanger	UTSW	8	84,767,720 (GRCm39)	critical splice acceptor site	probably null
herald	UTSW	8	84,760,578 (GRCm39)	critical splice donor site	probably null
R0133:Il27ra	UTSW	8	84,760,571 (GRCm39)	unclassified	probably benign
R0526:Il27ra	UTSW	8	84,766,128 (GRCm39)	missense	probably benign	0.37
R2914:Il27ra	UTSW	8	84,758,242 (GRCm39)	unclassified	probably benign
R3001:Il27ra	UTSW	8	84,758,660 (GRCm39)	nonsense	probably null
R3002:Il27ra	UTSW	8	84,758,660 (GRCm39)	nonsense	probably null
R3003:Il27ra	UTSW	8	84,758,660 (GRCm39)	nonsense	probably null
R3851:Il27ra	UTSW	8	84,767,317 (GRCm39)	missense	probably benign	0.00
R3978:Il27ra	UTSW	8	84,767,313 (GRCm39)	missense	probably benign	0.11
R4589:Il27ra	UTSW	8	84,763,038 (GRCm39)	missense	probably damaging	1.00
R4997:Il27ra	UTSW	8	84,766,156 (GRCm39)	nonsense	probably null
R5133:Il27ra	UTSW	8	84,760,688 (GRCm39)	missense	possibly damaging	0.71
R5955:Il27ra	UTSW	8	84,767,451 (GRCm39)	missense	probably benign	0.05
R6153:Il27ra	UTSW	8	84,758,773 (GRCm39)	critical splice acceptor site	probably null
R6489:Il27ra	UTSW	8	84,758,179 (GRCm39)	missense	probably benign	0.02
R7465:Il27ra	UTSW	8	84,766,241 (GRCm39)	missense	probably benign	0.00
R7890:Il27ra	UTSW	8	84,760,614 (GRCm39)	missense	probably damaging	0.97
R8051:Il27ra	UTSW	8	84,760,578 (GRCm39)	critical splice donor site	probably null
R8137:Il27ra	UTSW	8	84,767,720 (GRCm39)	critical splice acceptor site	probably null
R8335:Il27ra	UTSW	8	84,766,130 (GRCm39)	missense	probably damaging	0.96
R8473:Il27ra	UTSW	8	84,768,735 (GRCm39)	missense	probably benign	0.00
R8755:Il27ra	UTSW	8	84,765,988 (GRCm39)	missense	probably damaging	1.00
R8963:Il27ra	UTSW	8	84,767,711 (GRCm39)	missense	probably damaging	1.00
X0013:Il27ra	UTSW	8	84,768,788 (GRCm39)	missense	probably benign	0.21
Z1176:Il27ra	UTSW	8	84,767,619 (GRCm39)	missense	probably damaging	1.00
Z1177:Il27ra	UTSW	8	84,767,604 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTGGCAGGATCAGGAAC -3'
(R):5'- CCACTGAAAAGCCCAGTCTTTC -3'

Sequencing Primer
(F):5'- TCCACTGGGGAAGCAACTTGTG -3'
(R):5'- CTGAAAAGCCCAGTCTTTCTTGAGG -3'

Posted On

2019-12-03