Mutagenetix > Incidental Mutation

Incidental Mutation 'R6489:Il27ra'

522642

Institutional Source

Beutler Lab

Gene Symbol

Il27ra

Ensembl Gene

ENSMUSG00000005465

Gene Name

interleukin 27 receptor, alpha

Synonyms

WSX-1, IL-27R, Tccr

MMRRC Submission

044621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6489 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84756923-84769218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84758179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 524 (M524V)

Ref Sequence

ENSEMBL: ENSMUSP00000005601 (fasta)

Gene Model

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

AlphaFold

O70394

Predicted Effect

probably benign
Transcript: ENSMUST00000005601
AA Change: M524V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: M524V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210245

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

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
Acadvl	T	C	11: 69,901,145 (GRCm39)	T650A	probably benign	Het
Alkbh7	T	A	17: 57,305,979 (GRCm39)	S127T	probably damaging	Het
Ank3	G	A	10: 69,827,459 (GRCm39)	A565T	probably benign	Het
App	G	T	16: 84,853,408 (GRCm39)	D223E	unknown	Het
Arhgef2	C	A	3: 88,550,321 (GRCm39)	S675R	probably damaging	Het
Atg14	T	C	14: 47,786,480 (GRCm39)	D258G	probably damaging	Het
Calhm5	A	T	10: 33,968,502 (GRCm39)	W184R	probably damaging	Het
Cbr1b	A	T	16: 93,427,286 (GRCm39)		probably null	Het
Ckap2l	T	C	2: 129,111,034 (GRCm39)	D721G	possibly damaging	Het
Cog8	T	C	8: 107,776,933 (GRCm39)	T481A	probably benign	Het
Colec10	C	A	15: 54,325,609 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,521,009 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,332,389 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,592,270 (GRCm39)	M935T	probably damaging	Het
Dsg4	T	A	18: 20,604,420 (GRCm39)	N962K	possibly damaging	Het
Dym	T	C	18: 75,213,297 (GRCm39)	V173A	probably benign	Het
Exoc3l4	A	G	12: 111,395,131 (GRCm39)	Y583C	probably damaging	Het
Flnb	G	A	14: 7,867,551 (GRCm38)	V103M	probably damaging	Het
Fzd1	T	A	5: 4,807,336 (GRCm39)	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855 (GRCm39)	I474V	probably benign	Het
Galnt11	G	T	5: 25,469,964 (GRCm39)	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,738,127 (GRCm39)	V420A	probably benign	Het
H1f7	A	T	15: 98,154,888 (GRCm39)	L87*	probably null	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Ihh	T	A	1: 74,985,670 (GRCm39)	T272S	probably damaging	Het
Mdp1	C	A	14: 55,897,848 (GRCm39)		probably benign	Het
Med12l	A	G	3: 59,164,828 (GRCm39)	K1436R	probably damaging	Het
Megf10	C	T	18: 57,424,879 (GRCm39)	S1006F	probably benign	Het
Miga1	A	T	3: 151,984,645 (GRCm39)	I426N	probably damaging	Het
Mtmr6	C	T	14: 60,537,963 (GRCm39)	T654I	possibly damaging	Het
Nbeal1	A	G	1: 60,370,101 (GRCm39)	S2673G	possibly damaging	Het
Nup93	T	A	8: 95,028,716 (GRCm39)	H193Q	probably benign	Het
Or1e25	T	A	11: 73,494,265 (GRCm39)	N286K	probably damaging	Het
Or4f7	A	C	2: 111,644,405 (GRCm39)	L222W	probably damaging	Het
Or52ae9	T	C	7: 103,389,875 (GRCm39)	N191D	probably benign	Het
Pdcd11	C	T	19: 47,098,191 (GRCm39)	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,662,907 (GRCm39)	R521*	probably null	Het
Phf2	T	C	13: 48,979,658 (GRCm39)	S158G	unknown	Het
Pla2g15	A	G	8: 106,889,826 (GRCm39)	E366G	probably benign	Het
Plekhm2	A	T	4: 141,359,344 (GRCm39)	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,639,890 (GRCm39)	M87K	probably damaging	Het
Rbm19	T	G	5: 120,258,195 (GRCm39)	S137A	probably benign	Het
Ryr2	T	A	13: 11,848,893 (GRCm39)	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896 (GRCm39)	T122A	probably benign	Het
Scn4a	G	C	11: 106,240,006 (GRCm39)	D70E	probably benign	Het
Slc12a3	T	A	8: 95,061,632 (GRCm39)	V293D	possibly damaging	Het
Slc6a7	T	C	18: 61,140,615 (GRCm39)	Y139C	probably damaging	Het
Slco2b1	A	T	7: 99,339,762 (GRCm39)	C9*	probably null	Het
Slitrk1	A	T	14: 109,148,735 (GRCm39)	S659T	possibly damaging	Het
Son	T	G	16: 91,452,044 (GRCm39)	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066 (GRCm39)	G1326V	probably damaging	Het
Tcf12	A	G	9: 71,922,918 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,645,062 (GRCm39)	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574 (GRCm39)		probably null	Het
Utp15	G	T	13: 98,387,117 (GRCm39)	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,382,219 (GRCm39)		probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,301,558 (GRCm39)	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,346,637 (GRCm39)	I1672T	possibly 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
R7465:Il27ra	UTSW	8	84,766,241 (GRCm39)	missense	probably benign	0.00
R7828:Il27ra	UTSW	8	84,758,187 (GRCm39)	missense	probably damaging	1.00
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'- CACTGGGGAAGCAACTTGTG -3'
(R):5'- CTTCATGATGGTTGGACCCTC -3'

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

Posted On

2018-06-06