Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Il6ra'

490296

Institutional Source

Beutler Lab

Gene Symbol

Il6ra

Ensembl Gene

ENSMUSG00000027947

Gene Name

interleukin 6 receptor, alpha

Synonyms

CD126, IL-6 receptor alpha chain, IL-6R, Il6r

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89776631-89820503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89778598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 417 (F417S)

Ref Sequence

ENSEMBL: ENSMUSP00000143541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029559] [ENSMUST00000197679]

AlphaFold

P22272

Predicted Effect

probably benign
Transcript: ENSMUST00000029559
AA Change: F418S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029559
Gene: ENSMUSG00000027947
AA Change: F418S

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
IGc2	38	99	1.35e-9	SMART
Pfam:IL6Ra-bind	109	210	2.9e-21	PFAM
FN3	213	298	2.18e-2	SMART
transmembrane domain	363	385	N/A	INTRINSIC
low complexity region	396	417	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197679
AA Change: F417S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143541
Gene: ENSMUSG00000027947
AA Change: F417S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	38	99	5.7e-12	SMART
Pfam:IL6Ra-bind	109	210	6.8e-19	PFAM
FN3	213	298	1.1e-4	SMART
transmembrane domain	362	384	N/A	INTRINSIC
low complexity region	395	416	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,888,005 (GRCm39)	C127F	unknown	Het
9930111J21Rik2	A	T	11: 48,910,088 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,918,393 (GRCm39)	L676*	probably null	Het
Adgrv1	A	T	13: 81,567,378 (GRCm39)	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Akap6	T	A	12: 53,189,141 (GRCm39)	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,509,988 (GRCm39)	V793A	probably damaging	Het
Arid2	T	A	15: 96,266,558 (GRCm39)	N535K	probably benign	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Bbof1	C	T	12: 84,473,588 (GRCm39)	T306I	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,275,131 (GRCm39)	A351S	probably benign	Het
Cetn3	A	C	13: 81,940,097 (GRCm39)	R44S	probably damaging	Het
Cluap1	A	G	16: 3,746,425 (GRCm39)	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,004,731 (GRCm39)	V94I	probably null	Het
Cog6	A	T	3: 52,914,722 (GRCm39)	S245T	probably benign	Het
Disp2	T	A	2: 118,622,031 (GRCm39)	V921D	probably damaging	Het
Entrep2	G	A	7: 64,409,147 (GRCm39)	P416S	probably benign	Het
Ep400	T	C	5: 110,889,863 (GRCm39)	K504E	possibly damaging	Het
Fbn1	T	A	2: 125,177,409 (GRCm39)		probably null	Het
Fyb2	T	C	4: 104,857,713 (GRCm39)	V630A	probably benign	Het
Gm43218	T	A	6: 70,217,606 (GRCm39)	Y50F	probably benign	Het
Gm5431	T	C	11: 48,779,402 (GRCm39)	T507A	probably benign	Het
Gucy2e	G	T	11: 69,126,930 (GRCm39)	A181E	probably benign	Het
Hrnr	C	G	3: 93,233,062 (GRCm39)	S1100*	probably null	Het
Htt	T	C	5: 35,064,817 (GRCm39)	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,575,918 (GRCm39)	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,579,577 (GRCm39)	K25E	possibly damaging	Het
Itgb4	T	C	11: 115,885,102 (GRCm39)	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,897,790 (GRCm39)	A24T	probably benign	Het
Itpr1	T	C	6: 108,346,077 (GRCm39)	F127L	probably damaging	Het
Itprid2	T	G	2: 79,475,406 (GRCm39)	I455R	probably damaging	Het
Krt86	A	G	15: 101,374,170 (GRCm39)	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,838,230 (GRCm39)	W11R	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mettl3	A	G	14: 52,536,214 (GRCm39)	V210A	possibly damaging	Het
Mllt1	T	C	17: 57,206,822 (GRCm39)	T341A	probably benign	Het
Obscn	T	C	11: 58,891,325 (GRCm39)	E7069G	unknown	Het
Or1e27-ps1	A	T	11: 73,556,160 (GRCm39)	T242S	possibly damaging	Het
Or52b4	T	C	7: 102,184,479 (GRCm39)	I175T	probably benign	Het
Osgep	A	G	14: 51,157,209 (GRCm39)	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,347,675 (GRCm39)	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,350,443 (GRCm39)	E197V	probably null	Het
Pkn1	G	A	8: 84,407,835 (GRCm39)	Q425*	probably null	Het
Pramel22	T	C	4: 143,380,685 (GRCm39)	Y446C	probably benign	Het
Prss35	T	C	9: 86,637,491 (GRCm39)	I87T	probably benign	Het
Psmc3	T	C	2: 90,888,184 (GRCm39)	F304S	probably damaging	Het
Psmd11	T	A	11: 80,351,539 (GRCm39)	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,292,385 (GRCm39)	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,428,894 (GRCm39)	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,848,913 (GRCm39)	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,405,044 (GRCm39)	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,562,388 (GRCm39)	V255A	probably damaging	Het
Smc3	T	A	19: 53,622,517 (GRCm39)	N697K	probably benign	Het
Snai1	C	A	2: 167,380,831 (GRCm39)	P108Q	probably benign	Het
Stim2	T	G	5: 54,276,021 (GRCm39)	L732R	probably damaging	Het
Syde1	A	G	10: 78,421,938 (GRCm39)	L597S	probably damaging	Het
Tcte1	T	A	17: 45,845,996 (GRCm39)	M200K	probably benign	Het
Tenm2	T	A	11: 36,030,517 (GRCm39)	T761S	probably damaging	Het
Thoc2l	T	A	5: 104,666,262 (GRCm39)	N261K	probably benign	Het
Tlr2	C	A	3: 83,745,455 (GRCm39)	E209D	probably benign	Het
Tpp2	T	C	1: 44,022,739 (GRCm39)	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,304,704 (GRCm39)		probably benign	Het
Unc45a	A	C	7: 79,978,511 (GRCm39)	S646A	possibly damaging	Het
Usp37	A	T	1: 74,534,910 (GRCm39)	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,104,382 (GRCm39)	V335A	probably benign	Het
Wwc2	A	T	8: 48,311,878 (GRCm39)	S762T	unknown	Het
Yeats2	A	G	16: 20,038,417 (GRCm39)	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,251,558 (GRCm39)	V198A	probably benign	Het

Other mutations in Il6ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Il6ra	APN	3	89,793,350 (GRCm39)	missense	probably damaging	0.97
IGL02198:Il6ra	APN	3	89,797,655 (GRCm39)	missense	probably benign	0.07
IGL02363:Il6ra	APN	3	89,778,560 (GRCm39)	missense	probably benign	0.00
IGL03109:Il6ra	APN	3	89,784,165 (GRCm39)	nonsense	probably null
R0105:Il6ra	UTSW	3	89,784,125 (GRCm39)	missense	probably damaging	1.00
R0569:Il6ra	UTSW	3	89,785,149 (GRCm39)	critical splice donor site	probably null
R0926:Il6ra	UTSW	3	89,794,376 (GRCm39)	missense	probably damaging	0.99
R1837:Il6ra	UTSW	3	89,797,579 (GRCm39)	missense	probably benign	0.00
R1838:Il6ra	UTSW	3	89,797,579 (GRCm39)	missense	probably benign	0.00
R3147:Il6ra	UTSW	3	89,793,235 (GRCm39)	missense	probably benign	0.29
R4478:Il6ra	UTSW	3	89,797,597 (GRCm39)	missense	probably damaging	1.00
R5470:Il6ra	UTSW	3	89,793,302 (GRCm39)	missense	probably benign	0.05
R5572:Il6ra	UTSW	3	89,778,589 (GRCm39)	missense	probably damaging	1.00
R6300:Il6ra	UTSW	3	89,794,436 (GRCm39)	missense	probably damaging	0.97
R6543:Il6ra	UTSW	3	89,784,170 (GRCm39)	missense	probably damaging	1.00
R7129:Il6ra	UTSW	3	89,778,554 (GRCm39)	missense	probably damaging	0.99
R8023:Il6ra	UTSW	3	89,820,260 (GRCm39)	critical splice donor site	probably null
R8682:Il6ra	UTSW	3	89,793,976 (GRCm39)	missense	possibly damaging	0.88
R8997:Il6ra	UTSW	3	89,794,418 (GRCm39)	missense	probably damaging	1.00
R9697:Il6ra	UTSW	3	89,785,219 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCCGCATGAGAAACTTGTG -3'
(R):5'- TCGGCATTTCTGTAAGCCAAAC -3'

Sequencing Primer
(F):5'- CATGAGAAACTTGTGTGCTGATCTC -3'
(R):5'- GGCATTTCTGTAAGCCAAACCTAGAC -3'

Posted On

2017-10-10