Mutagenetix > Incidental Mutation

Incidental Mutation 'R4997:Il27ra'

385352

Institutional Source

Beutler Lab

Gene Symbol

Il27ra

Ensembl Gene

ENSMUSG00000005465

Gene Name

interleukin 27 receptor, alpha

Synonyms

WSX-1, IL-27R, Tccr

MMRRC Submission

042591-MU

Accession Numbers

Essential gene?

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

Stock #

R4997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84756923-84769218 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 84766156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 209 (Y209*)

Ref Sequence

ENSEMBL: ENSMUSP00000005601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005601] [ENSMUST00000061923]

AlphaFold

O70394

Predicted Effect

probably null
Transcript: ENSMUST00000005601
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: Y209*

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: ENSMUST00000061923

SMART Domains

Protein: ENSMUSP00000051392
Gene: ENSMUSG00000045232

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	31	140	5.7e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210790

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.] 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	A	T	14: 33,775,623 (GRCm39)	M1L	probably benign	Het
Abca7	C	A	10: 79,843,154 (GRCm39)	Q1210K	possibly damaging	Het
Abcc4	C	T	14: 118,753,915 (GRCm39)	W1024*	probably null	Het
Accs	A	T	2: 93,672,228 (GRCm39)	Y213*	probably null	Het
Adam6a	G	T	12: 113,508,991 (GRCm39)	G455C	probably damaging	Het
Adcy1	A	C	11: 7,111,298 (GRCm39)	Y863S	probably benign	Het
Adgrg1	A	G	8: 95,736,148 (GRCm39)	D434G	probably damaging	Het
Afap1l1	C	T	18: 61,884,879 (GRCm39)	R202Q	probably benign	Het
Aldh3a1	T	C	11: 61,103,137 (GRCm39)	V27A	probably benign	Het
Antxr2	A	G	5: 98,125,553 (GRCm39)	F235L	probably benign	Het
Arhgap23	T	A	11: 97,342,846 (GRCm39)	V376E	probably damaging	Het
Brca1	A	C	11: 101,415,159 (GRCm39)	S992A	probably damaging	Het
Brcc3dc	A	G	10: 108,535,649 (GRCm39)	I102T	probably benign	Het
Calcrl	A	T	2: 84,181,592 (GRCm39)	C185*	probably null	Het
Cep152	T	C	2: 125,428,271 (GRCm39)	T787A	probably benign	Het
Coch	T	A	12: 51,649,964 (GRCm39)		probably null	Het
Col5a1	T	A	2: 27,922,794 (GRCm39)	Y287*	probably null	Het
Dis3l	A	G	9: 64,219,224 (GRCm39)	S569P	possibly damaging	Het
Dnai1	A	G	4: 41,597,919 (GRCm39)	I74V	possibly damaging	Het
Dpy19l4	A	G	4: 11,287,493 (GRCm39)	V394A	probably benign	Het
Egfem1	A	G	3: 29,207,739 (GRCm39)	H122R	probably benign	Het
Endou	A	G	15: 97,617,458 (GRCm39)	L164P	probably damaging	Het
Epgn	A	G	5: 91,180,098 (GRCm39)	E80G	possibly damaging	Het
Fcgbpl1	T	G	7: 27,843,349 (GRCm39)	S746A	possibly damaging	Het
Fitm1	T	C	14: 55,814,364 (GRCm39)	S287P	probably benign	Het
Foxm1	A	G	6: 128,342,731 (GRCm39)	N22D	probably benign	Het
Gsdmc	A	T	15: 63,648,629 (GRCm39)	M426K	probably damaging	Het
Hmcn2	T	A	2: 31,291,720 (GRCm39)	V2418D	probably damaging	Het
Hs3st2	T	A	7: 121,099,679 (GRCm39)	L175Q	possibly damaging	Het
Il1r2	T	C	1: 40,160,206 (GRCm39)		probably null	Het
Inpp5a	A	T	7: 138,980,654 (GRCm39)	S31C	probably benign	Het
Invs	A	G	4: 48,396,332 (GRCm39)	D335G	probably damaging	Het
Isg15	C	T	4: 156,284,154 (GRCm39)	E125K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama4	C	A	10: 38,968,262 (GRCm39)	T1468K	probably damaging	Het
Lce1a2	A	G	3: 92,576,395 (GRCm39)	S56P	unknown	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lmf1	G	A	17: 25,807,650 (GRCm39)	W164*	probably null	Het
Mad2l1bp	G	T	17: 46,463,804 (GRCm39)	C73*	probably null	Het
Mpzl1	A	C	1: 165,429,350 (GRCm39)	V230G	probably damaging	Het
Myo3b	A	G	2: 70,088,427 (GRCm39)	T869A	possibly damaging	Het
Ncor2	T	C	5: 125,111,074 (GRCm39)	H1316R	probably damaging	Het
Nlrp1b	T	A	11: 71,109,160 (GRCm39)	I114F	probably damaging	Het
Nsun7	A	G	5: 66,453,182 (GRCm39)	I632M	probably benign	Het
Nubp1	T	C	16: 10,239,185 (GRCm39)	I234T	probably benign	Het
Olfml1	A	G	7: 107,170,413 (GRCm39)	D100G	probably damaging	Het
Or1e1b-ps1	T	A	11: 73,845,612 (GRCm39)	L32Q	probably damaging	Het
Or5p73	C	A	7: 108,064,701 (GRCm39)	Q57K	probably benign	Het
Or7g23	A	T	9: 19,086,627 (GRCm39)	L115Q	probably damaging	Het
Osmr	G	T	15: 6,845,120 (GRCm39)	P882Q	probably benign	Het
Peg10	TCAGGATCC	TCAGGATCCCCAGCAGGATCC	6: 4,756,457 (GRCm39)		probably benign	Het
Per2	T	A	1: 91,378,505 (GRCm39)	T15S	probably benign	Het
Piezo2	A	G	18: 63,216,184 (GRCm39)	Y1184H	probably damaging	Het
Pik3c2b	C	T	1: 133,032,819 (GRCm39)	A1560V	probably damaging	Het
Pik3cd	A	C	4: 149,743,441 (GRCm39)	L256R	probably damaging	Het
Ppl	C	A	16: 4,907,235 (GRCm39)	R1020L	probably damaging	Het
Ppp1r10	A	G	17: 36,234,976 (GRCm39)	N60S	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prkci	T	C	3: 31,085,375 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,112,323 (GRCm39)	Y1929C	probably damaging	Het
Prss12	T	C	3: 123,240,857 (GRCm39)	V17A	probably benign	Het
Qtrt1	A	G	9: 21,328,654 (GRCm39)	N206S	probably benign	Het
Rad54l2	A	C	9: 106,600,108 (GRCm39)	S50A	possibly damaging	Het
Rhov	C	T	2: 119,100,949 (GRCm39)	R96H	probably damaging	Het
Rph3a	A	T	5: 121,101,906 (GRCm39)	V110E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	T	13: 11,610,192 (GRCm39)	N646K	probably benign	Het
Scn8a	A	G	15: 100,854,935 (GRCm39)	T141A	probably damaging	Het
Serping1	T	C	2: 84,600,629 (GRCm39)	R238G	possibly damaging	Het
Shank3	T	A	15: 89,433,901 (GRCm39)	W1474R	probably damaging	Het
Slc16a12	T	A	19: 34,652,358 (GRCm39)	M263L	probably benign	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Spata31	G	A	13: 65,067,537 (GRCm39)	M66I	probably benign	Het
Spem2	T	C	11: 69,708,558 (GRCm39)	I136V	probably benign	Het
Supt5	T	C	7: 28,015,462 (GRCm39)	H925R	probably benign	Het
Syk	A	T	13: 52,766,484 (GRCm39)	K190*	probably null	Het
Thsd1	T	A	8: 22,733,340 (GRCm39)	V129D	probably damaging	Het
Tiprl	A	G	1: 165,047,759 (GRCm39)	V174A	possibly damaging	Het
Tmed4	T	A	11: 6,224,500 (GRCm39)		probably null	Het
Tnfrsf19	T	C	14: 61,208,658 (GRCm39)	T288A	probably benign	Het
Tnfrsf25	T	C	4: 152,202,153 (GRCm39)		probably null	Het
Tpd52	A	G	3: 9,000,056 (GRCm39)	L121S	probably damaging	Het
Trim30a	T	A	7: 104,060,827 (GRCm39)	K316N	probably benign	Het
Ttc3	T	G	16: 94,253,841 (GRCm39)	D1221E	probably damaging	Het
Ttn	C	T	2: 76,714,403 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,776,615 (GRCm39)	I1514V	probably benign	Het
Ulk2	T	C	11: 61,689,982 (GRCm39)	T671A	probably benign	Het
Wasf1	C	T	10: 40,810,600 (GRCm39)	P281S	probably damaging	Het
Wnt10b	C	A	15: 98,672,084 (GRCm39)	R211L	probably damaging	Het
Xpnpep3	T	A	15: 81,332,577 (GRCm39)	C371*	probably null	Het
Zfp41	C	T	15: 75,490,617 (GRCm39)		probably benign	Het
Zfp553	T	A	7: 126,834,683 (GRCm39)	N79K	probably benign	Het
Zmynd8	G	T	2: 165,634,736 (GRCm39)	D1096E	probably benign	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
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
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'- TTTGCCAGAAGTTTCACAGACG -3'
(R):5'- TAGCCTTGTGTCAGAGCCAG -3'

Sequencing Primer
(F):5'- GAAGTTTCACAGACGGTCCC -3'
(R):5'- CTTGTGTCAGAGCCAGGACCATAG -3'

Posted On

2016-05-10