Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03334:Il27ra'

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416974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il27ra

Ensembl Gene

ENSMUSG00000005465

Gene Name

interleukin 27 receptor, alpha

Synonyms

IL-27R, WSX-1, Tccr

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

84030294-84042589 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84031122 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 594 (V594A)

Ref Sequence

ENSEMBL: ENSMUSP00000005601 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000005601
AA Change: V594A

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: V594A

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

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in Il27ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:Il27ra	APN	8	84031535	missense	probably benign	0.01
IGL03096:Il27ra	APN	8	84031532	missense	probably damaging	1.00
angel	UTSW	8	84032144	critical splice acceptor site	probably null
Gabriel	UTSW	8	84033985	missense	probably damaging	0.97
herald	UTSW	8	84033949	critical splice donor site	probably null
R0133:Il27ra	UTSW	8	84033942	unclassified	probably benign
R0526:Il27ra	UTSW	8	84039499	missense	probably benign	0.37
R2914:Il27ra	UTSW	8	84031613	unclassified	probably benign
R3001:Il27ra	UTSW	8	84032031	nonsense	probably null
R3002:Il27ra	UTSW	8	84032031	nonsense	probably null
R3003:Il27ra	UTSW	8	84032031	nonsense	probably null
R3851:Il27ra	UTSW	8	84040688	missense	probably benign	0.00
R3978:Il27ra	UTSW	8	84040684	missense	probably benign	0.11
R4589:Il27ra	UTSW	8	84036409	missense	probably damaging	1.00
R4997:Il27ra	UTSW	8	84039527	nonsense	probably null
R5133:Il27ra	UTSW	8	84034059	missense	possibly damaging	0.71
R5955:Il27ra	UTSW	8	84040822	missense	probably benign	0.05
R6153:Il27ra	UTSW	8	84032144	critical splice acceptor site	probably null
R6489:Il27ra	UTSW	8	84031550	missense	probably benign	0.02
R7465:Il27ra	UTSW	8	84039612	missense	probably benign	0.00
R7828:Il27ra	UTSW	8	84031558	missense	probably damaging	1.00
R7890:Il27ra	UTSW	8	84033985	missense	probably damaging	0.97
R8051:Il27ra	UTSW	8	84033949	critical splice donor site	probably null
R8137:Il27ra	UTSW	8	84041091	critical splice acceptor site	probably null
R8335:Il27ra	UTSW	8	84039501	missense	probably damaging	0.96
X0013:Il27ra	UTSW	8	84042159	missense	probably benign	0.21
Z1176:Il27ra	UTSW	8	84040990	missense	probably damaging	1.00
Z1177:Il27ra	UTSW	8	84040975	frame shift	probably null

Posted On

2016-08-02