Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Il6ra'

205466

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

MMRRC Submission

039865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89776631-89820503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89797579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 96 (D96G)

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: D96G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029559
Gene: ENSMUSG00000027947
AA Change: D96G

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: D96G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143541
Gene: ENSMUSG00000027947
AA Change: D96G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,690 (GRCm39)	D22G	unknown	Het
Abca4	G	A	3: 121,921,954 (GRCm39)	R1170K	probably benign	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,142,581 (GRCm39)	R267L	probably damaging	Het
Adgrb2	A	T	4: 129,904,024 (GRCm39)	T717S	probably benign	Het
Adgrb3	A	G	1: 25,123,351 (GRCm39)	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,547,242 (GRCm39)	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Btnl6	T	A	17: 34,734,516 (GRCm39)	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,200,695 (GRCm39)	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,799,702 (GRCm39)		probably null	Het
Cdhr5	C	T	7: 140,852,516 (GRCm39)	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,822,525 (GRCm39)	D26G	probably damaging	Het
Ctr9	G	T	7: 110,651,510 (GRCm39)	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 26,857,841 (GRCm39)	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,909,894 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,436,949 (GRCm39)	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,743,415 (GRCm39)	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,155,337 (GRCm39)	V295A	probably benign	Het
Dnah7b	C	A	1: 46,316,265 (GRCm39)	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,767,719 (GRCm39)	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,830,660 (GRCm39)	I447L	probably benign	Het
Glt1d1	G	A	5: 127,755,193 (GRCm39)	V202I	probably benign	Het
Grk1	T	C	8: 13,466,155 (GRCm39)	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Gzma	T	A	13: 113,232,518 (GRCm39)	I131F	probably damaging	Het
Helq	A	T	5: 100,919,745 (GRCm39)	L35*	probably null	Het
Hnrnpll	T	C	17: 80,346,052 (GRCm39)	N403S	probably damaging	Het
Hsf5	A	G	11: 87,526,881 (GRCm39)	K518E	probably benign	Het
Ighe	T	A	12: 113,235,470 (GRCm39)	H258L	unknown	Het
Ints13	C	T	6: 146,468,109 (GRCm39)	A129T	possibly damaging	Het
Ipo7	T	A	7: 109,641,316 (GRCm39)	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,011,828 (GRCm39)	E136D	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,676,222 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,815,594 (GRCm39)	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,299,481 (GRCm39)	N114K	probably benign	Het
Lrfn1	A	T	7: 28,159,193 (GRCm39)	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,161,242 (GRCm39)	V240A	probably benign	Het
Lypd1	A	T	1: 125,801,108 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Man2c1	A	G	9: 57,044,621 (GRCm39)	N354S	probably benign	Het
Map3k13	T	C	16: 21,732,939 (GRCm39)	Y514H	possibly damaging	Het
Med15	T	C	16: 17,471,426 (GRCm39)	D577G	probably benign	Het
Mroh4	A	T	15: 74,487,962 (GRCm39)	M320K	probably benign	Het
Ms4a10	T	A	19: 10,941,411 (GRCm39)	D186V	possibly damaging	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,180,835 (GRCm39)	R741S	probably damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Naip6	T	C	13: 100,452,644 (GRCm39)	D139G	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or2p2	A	T	13: 21,256,595 (GRCm39)	L292*	probably null	Het
Or4a79	A	T	2: 89,552,053 (GRCm39)	M134K	probably damaging	Het
Or8g2	A	T	9: 39,821,137 (GRCm39)	I13F	possibly damaging	Het
Pcdhb3	A	G	18: 37,434,370 (GRCm39)	D112G	probably benign	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Pgm3	C	T	9: 86,451,286 (GRCm39)	V123I	probably benign	Het
Pms1	A	C	1: 53,231,257 (GRCm39)		probably null	Het
Prl2b1	A	G	13: 27,572,549 (GRCm39)	S14P	possibly damaging	Het
Prune2	T	A	19: 17,177,242 (GRCm39)	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,241,862 (GRCm39)	E422G	probably benign	Het
Ralyl	A	G	3: 14,208,472 (GRCm39)	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,558,962 (GRCm39)		probably benign	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,067,067 (GRCm39)	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,215,778 (GRCm39)	H63L	probably benign	Het
Smpd4	G	A	16: 17,460,166 (GRCm39)		probably null	Het
Sp3	A	G	2: 72,768,520 (GRCm39)	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,863,671 (GRCm39)	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,865,279 (GRCm39)	R809K	probably benign	Het
Tmco5	A	T	2: 116,711,360 (GRCm39)	E90V	probably damaging	Het
Tnxb	A	T	17: 34,897,884 (GRCm39)	D844V	probably damaging	Het
Tpi1	T	C	6: 124,791,115 (GRCm39)	T41A	probably benign	Het
Ttn	T	C	2: 76,557,536 (GRCm39)	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,001,730 (GRCm39)	T5I	probably benign	Het
Wdr95	A	G	5: 149,522,831 (GRCm39)	D663G	probably benign	Het
Zbtb39	T	C	10: 127,578,569 (GRCm39)	F381S	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp646	T	A	7: 127,478,911 (GRCm39)	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,190,111 (GRCm39)	C139G	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	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
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
R6169:Il6ra	UTSW	3	89,778,598 (GRCm39)	missense	probably benign	0.15
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'- GGGCTATTAAATCTGCCAGATGG -3'
(R):5'- TTCCCCAGAGGTGGCAAATG -3'

Sequencing Primer
(F):5'- GCTTCCACAGCTGGCTG -3'
(R):5'- TGGCACAGTGACAAGCCTG -3'

Posted On

2014-06-23