Mutagenetix > Incidental Mutation

Incidental Mutation 'R7890:Il27ra'

609270

Institutional Source

Beutler Lab

Gene Symbol

Il27ra

Ensembl Gene

ENSMUSG00000005465

Gene Name

interleukin 27 receptor, alpha

Synonyms

WSX-1, IL-27R, Tccr

MMRRC Submission

045942-MU

Accession Numbers

Essential gene?

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

Stock #

R7890 (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 84760614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 450 (I450M)

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: I450M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: I450M

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,031,969 (GRCm39)	K551N	probably benign	Het
Acp4	A	C	7: 43,903,528 (GRCm39)	L262R	probably damaging	Het
Acsf3	G	T	8: 123,512,704 (GRCm39)		probably null	Het
Ago4	T	C	4: 126,419,869 (GRCm39)	Q36R	probably benign	Het
Ankrd31	T	A	13: 96,968,379 (GRCm39)	I672K	probably benign	Het
Astn1	A	T	1: 158,407,903 (GRCm39)	D628V	probably damaging	Het
Brca2	T	C	5: 150,462,846 (GRCm39)	V870A	possibly damaging	Het
Camk4	T	C	18: 33,318,058 (GRCm39)	V405A	probably benign	Het
Carmil1	A	T	13: 24,197,215 (GRCm39)	S146T		Het
Cflar	T	A	1: 58,791,915 (GRCm39)	L406Q		Het
Clic6	T	A	16: 92,296,275 (GRCm39)	S312T	probably benign	Het
Col5a2	T	C	1: 45,444,147 (GRCm39)		probably null	Het
Ctc1	C	A	11: 68,917,355 (GRCm39)	Q384K	probably damaging	Het
Defa24	A	G	8: 22,224,556 (GRCm39)	K2E	probably damaging	Het
Dis3l	C	A	9: 64,229,753 (GRCm39)	A309S	probably benign	Het
Dnah9	A	G	11: 65,962,898 (GRCm39)	S1806P	probably damaging	Het
Dolk	C	T	2: 30,174,726 (GRCm39)	V440I	probably damaging	Het
Erc2	A	G	14: 27,762,298 (GRCm39)		probably null	Het
Fntb	T	C	12: 76,920,224 (GRCm39)		probably null	Het
Gm4846	A	T	1: 166,322,228 (GRCm39)	V113E	probably benign	Het
Gm5592	G	T	7: 40,936,183 (GRCm39)	Q228H	probably damaging	Het
Gm5916	T	A	9: 36,032,291 (GRCm39)	T48S	possibly damaging	Het
Ift172	G	T	5: 31,440,425 (GRCm39)	Y287*	probably null	Het
Krtap31-2	T	A	11: 99,827,377 (GRCm39)	C70S	possibly damaging	Het
Lipo4	T	A	19: 33,478,964 (GRCm39)	H292L	probably damaging	Het
Lyst	T	C	13: 13,915,154 (GRCm39)	F3283L	probably damaging	Het
Mctp1	T	G	13: 76,975,876 (GRCm39)	C750G	probably damaging	Het
Msantd5	C	T	11: 51,125,665 (GRCm39)	S196L	probably damaging	Het
Mtmr7	T	C	8: 41,004,776 (GRCm39)	D600G	possibly damaging	Het
Mylk	C	T	16: 34,784,018 (GRCm39)	Q1395*	probably null	Het
Nap1l5	T	A	6: 58,883,873 (GRCm39)	D27V	probably damaging	Het
Nfkbib	T	C	7: 28,461,512 (GRCm39)	D75G	probably damaging	Het
Nlrc4	T	A	17: 74,744,503 (GRCm39)	M793L	probably benign	Het
Or13m2-ps1	T	A	6: 42,778,426 (GRCm39)	C250*	probably null	Het
Or52ab4	G	T	7: 102,987,537 (GRCm39)	C92F	probably benign	Het
Or5p52	T	C	7: 107,502,250 (GRCm39)	S109P	probably benign	Het
Or7g19	T	C	9: 18,856,799 (GRCm39)	M285T	probably benign	Het
Or8g37	C	T	9: 39,731,310 (GRCm39)	A125V	probably damaging	Het
Pcdh15	G	A	10: 74,478,146 (GRCm39)	R207Q	probably damaging	Het
Plek	T	C	11: 16,945,238 (GRCm39)	T54A	probably benign	Het
Pno1	C	A	11: 17,161,443 (GRCm39)	R22L	probably benign	Het
Prkca	A	T	11: 107,903,510 (GRCm39)	N287K	probably damaging	Het
Rapgef6	C	G	11: 54,517,549 (GRCm39)	H414D	probably damaging	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rpap2	T	C	5: 107,754,777 (GRCm39)	C136R	probably damaging	Het
Rtl1	C	T	12: 109,559,251 (GRCm39)	E863K	possibly damaging	Het
Ryr3	A	T	2: 112,757,257 (GRCm39)	I366N	probably damaging	Het
Scn9a	T	C	2: 66,373,456 (GRCm39)	I508V	probably benign	Het
Sec14l3	A	G	11: 4,024,795 (GRCm39)	D248G	probably damaging	Het
Six6	A	T	12: 72,987,317 (GRCm39)	Q163L	probably benign	Het
Slco6c1	A	G	1: 96,990,192 (GRCm39)	V683A	possibly damaging	Het
Smc1b	A	G	15: 84,950,529 (GRCm39)	V1165A	probably damaging	Het
Smgc	A	T	15: 91,731,279 (GRCm39)	Q241L	possibly damaging	Het
Tdrp	A	T	8: 14,005,727 (GRCm39)	S65T	probably damaging	Het
Tg	A	T	15: 66,555,663 (GRCm39)	Y785F	probably damaging	Het
Themis2	T	G	4: 132,516,954 (GRCm39)	Q182P	probably damaging	Het
Tmem86b	G	T	7: 4,631,404 (GRCm39)	S216*	probably null	Het
Ttyh2	T	A	11: 114,577,272 (GRCm39)	I61N	possibly damaging	Het
Vmn2r97	A	T	17: 19,149,802 (GRCm39)	T397S	probably benign	Het
Zfp141	C	T	7: 42,125,903 (GRCm39)	D190N	probably damaging	Het
Zfp58	T	C	13: 67,640,114 (GRCm39)	R126G	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
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
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'- GCCCATTTCAGTGGTTGTCAAG -3'
(R):5'- CTCAGTTTGGGGATTCAGAGAG -3'

Sequencing Primer
(F):5'- CAAGATTGTTACTGTCCTCTGGGAAC -3'
(R):5'- AGTTTGGGGATTCAGAGAGGAGTTAG -3'

Posted On

2019-12-20