Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Il6ra'

205376

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

039864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1837 (G1)

Quality Score

225

Status

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: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	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
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam111a	T	A	19: 12,564,816 (GRCm39)	S188R	probably benign	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	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
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,138,408 (GRCm39)	G391R	probably damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,978,879 (GRCm39)	C471S	probably benign	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc21b	A	T	2: 66,028,106 (GRCm39)	L1121H	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,048 (GRCm39)	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	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
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
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'- GAGTCCAGGGCTATTAAATCTGC -3'
(R):5'- GCCACCGTTACCCTGATTTG -3'

Sequencing Primer
(F):5'- CCAGGGCTATTAAATCTGCCAGATG -3'
(R):5'- TGATTTGCCCCGGGAAGG -3'

Posted On

2014-06-23