Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Il31ra'

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993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il31ra

Ensembl Gene

ENSMUSG00000050377

Gene Name

interleukin 31 receptor A

Synonyms

GLM-R, GPL

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

112519898-112594360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112547478 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 120 (I120N)

Ref Sequence

ENSEMBL: ENSMUSP00000153298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051756] [ENSMUST00000223752] [ENSMUST00000223819] [ENSMUST00000224510] [ENSMUST00000224576] [ENSMUST00000225397]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051756
AA Change: I120N

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: I120N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FN3	115	198	7.75e0	SMART
Blast:FN3	216	297	1e-40	BLAST
FN3	325	394	1.15e1	SMART
FN3	408	490	7.18e-3	SMART
low complexity region	508	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223752

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223819
AA Change: I147N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224070

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224510
AA Change: I39N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000224576

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225397
AA Change: I120N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous null mice display no apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Il31ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Il31ra	APN	13	112549559	nonsense	probably null
IGL01640:Il31ra	APN	13	112531758	missense	possibly damaging	0.58
IGL02009:Il31ra	APN	13	112533867	missense	probably damaging	0.98
IGL02431:Il31ra	APN	13	112530296	missense	probably damaging	1.00
IGL02675:Il31ra	APN	13	112524352	missense	probably benign	0.00
IGL02718:Il31ra	APN	13	112530369	nonsense	probably null
IGL03388:Il31ra	APN	13	112546212	missense	probably damaging	1.00
IGL03408:Il31ra	APN	13	112525888	missense	probably benign	0.21
R0482:Il31ra	UTSW	13	112527481	missense	possibly damaging	0.89
R0639:Il31ra	UTSW	13	112525843	missense	possibly damaging	0.95
R0905:Il31ra	UTSW	13	112531673	missense	probably damaging	1.00
R0948:Il31ra	UTSW	13	112530378	missense	possibly damaging	0.81
R1420:Il31ra	UTSW	13	112531752	missense	probably damaging	1.00
R1538:Il31ra	UTSW	13	112547466	missense	possibly damaging	0.91
R1776:Il31ra	UTSW	13	112541239	missense	probably damaging	0.97
R1931:Il31ra	UTSW	13	112541222	missense	probably damaging	1.00
R2006:Il31ra	UTSW	13	112530356	missense	probably damaging	1.00
R2134:Il31ra	UTSW	13	112543888	missense	possibly damaging	0.94
R3103:Il31ra	UTSW	13	112530351	missense	probably damaging	1.00
R4089:Il31ra	UTSW	13	112551919	nonsense	probably null
R4742:Il31ra	UTSW	13	112523967	nonsense	probably null
R4787:Il31ra	UTSW	13	112527545	missense	possibly damaging	0.82
R5154:Il31ra	UTSW	13	112523997	missense	possibly damaging	0.87
R5193:Il31ra	UTSW	13	112524330	missense	probably benign	0.34
R5402:Il31ra	UTSW	13	112524135	missense	probably benign	0.01
R5743:Il31ra	UTSW	13	112527487	missense	possibly damaging	0.89
R5917:Il31ra	UTSW	13	112546312	missense	probably benign
R6126:Il31ra	UTSW	13	112530374	missense	probably damaging	1.00
R6414:Il31ra	UTSW	13	112523907	missense	possibly damaging	0.90
R6580:Il31ra	UTSW	13	112551942	missense	possibly damaging	0.90
R6727:Il31ra	UTSW	13	112547368	missense	probably damaging	1.00
R6783:Il31ra	UTSW	13	112551988	critical splice acceptor site	probably null
R6912:Il31ra	UTSW	13	112549464	missense	probably damaging	0.99
R6925:Il31ra	UTSW	13	112527529	missense	possibly damaging	0.56
R7187:Il31ra	UTSW	13	112546311	missense	probably benign	0.04
R7210:Il31ra	UTSW	13	112549500	missense	possibly damaging	0.95
R7236:Il31ra	UTSW	13	112523905	makesense	probably null
R7323:Il31ra	UTSW	13	112551963	missense	probably damaging	1.00
R7618:Il31ra	UTSW	13	112551980	missense	possibly damaging	0.66
R7783:Il31ra	UTSW	13	112541251	missense	probably benign
R8353:Il31ra	UTSW	13	112524183	missense	probably damaging	1.00
R8453:Il31ra	UTSW	13	112524183	missense	probably damaging	1.00

Posted On

2011-07-12