Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Il31ra'

696852

Institutional Source

Beutler Lab

Gene Symbol

Il31ra

Ensembl Gene

ENSMUSG00000050377

Gene Name

interleukin 31 receptor A

Synonyms

GLM-R, GPL

MMRRC Submission

068978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112649439-112717266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112677780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 252 (Y252C)

Ref Sequence

ENSEMBL: ENSMUSP00000058045 (fasta)

Gene Model

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

AlphaFold

Q8K5B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000051756
AA Change: Y252C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058045
Gene: ENSMUSG00000050377
AA Change: Y252C

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

probably damaging
Transcript: ENSMUST00000223819
AA Change: Y279C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224510
AA Change: Y171C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224576

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,880,992 (GRCm39)	T146S	unknown	Het
Abca8b	A	T	11: 109,840,937 (GRCm39)	F1079I	probably benign	Het
Adcy10	A	T	1: 165,403,218 (GRCm39)	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,312,846 (GRCm39)	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448 (GRCm39)		probably benign	Het
Apc2	G	A	10: 80,150,235 (GRCm39)	G1763E	probably benign	Het
Bmp1	G	T	14: 70,727,613 (GRCm39)	R657S	possibly damaging	Het
Calm1	G	A	12: 100,171,979 (GRCm39)		probably null	Het
Ccdc150	C	A	1: 54,311,644 (GRCm39)	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 179,958,401 (GRCm39)	I275T		Het
Cfap54	G	T	10: 92,830,579 (GRCm39)	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,659,169 (GRCm39)	V592A	probably benign	Het
Colec11	A	T	12: 28,644,854 (GRCm39)	N213K	possibly damaging	Het
Dennd2b	C	T	7: 109,156,291 (GRCm39)	G153D	probably benign	Het
Dennd5b	G	A	6: 148,934,844 (GRCm39)	R676*	probably null	Het
Dnaaf5	T	G	5: 139,138,652 (GRCm39)	Y278D	probably damaging	Het
Dop1a	T	A	9: 86,371,796 (GRCm39)	Y162*	probably null	Het
Dync1li2	A	G	8: 105,150,255 (GRCm39)	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,883,276 (GRCm39)	T505A	probably benign	Het
Ebf1	A	G	11: 44,895,548 (GRCm39)	I584M	probably benign	Het
Eif1ad17	A	G	12: 87,978,786 (GRCm39)	R57G	probably damaging	Het
Frmpd1	T	C	4: 45,285,367 (GRCm39)	L1396P	probably damaging	Het
Gart	A	T	16: 91,430,904 (GRCm39)	V386D	possibly damaging	Het
Gprin1	C	T	13: 54,885,601 (GRCm39)	R891H	probably damaging	Het
Gsap	G	A	5: 21,422,471 (GRCm39)	V147I	probably damaging	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Hmcn2	T	C	2: 31,281,521 (GRCm39)	V1912A	possibly damaging	Het
Icos	G	T	1: 61,034,714 (GRCm39)	S179I	probably damaging	Het
Ifi209	T	C	1: 173,464,969 (GRCm39)	L33P	probably damaging	Het
Igsf10	A	G	3: 59,233,480 (GRCm39)	I1751T	possibly damaging	Het
Ints6	A	T	14: 62,947,036 (GRCm39)	S310T	probably damaging	Het
Kcng1	A	T	2: 168,111,105 (GRCm39)	S20T	possibly damaging	Het
Klf15	T	C	6: 90,444,091 (GRCm39)	I222T	probably damaging	Het
Lmo7	A	T	14: 102,044,906 (GRCm39)	K53*	probably null	Het
Map10	C	A	8: 126,397,649 (GRCm39)	N347K	probably damaging	Het
Mrps11	C	A	7: 78,440,444 (GRCm39)	T111K	probably damaging	Het
Myom3	T	G	4: 135,506,710 (GRCm39)	D494E	probably benign	Het
Naalad2	T	A	9: 18,242,152 (GRCm39)	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,826,050 (GRCm39)	V9A	probably benign	Het
Nrcam	G	T	12: 44,615,329 (GRCm39)	V640F	possibly damaging	Het
Or10x4	C	T	1: 174,219,229 (GRCm39)	T198I	probably benign	Het
Or2t48	C	A	11: 58,420,473 (GRCm39)	G113V	probably damaging	Het
Or52d1	T	C	7: 103,755,720 (GRCm39)	M78T	probably benign	Het
Or5ak23	G	A	2: 85,244,848 (GRCm39)	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,860,892 (GRCm39)	H649Q	probably benign	Het
Pdk1	C	A	2: 71,730,402 (GRCm39)	H413Q	probably benign	Het
Pfkm	T	A	15: 98,027,161 (GRCm39)	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,842,535 (GRCm39)	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,443,993 (GRCm39)	M406K	probably benign	Het
Ptf1a	C	T	2: 19,450,536 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,295,264 (GRCm39)	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,411,211 (GRCm39)	T166A	possibly damaging	Het
Sav1	A	T	12: 70,022,790 (GRCm39)	V254E	probably damaging	Het
Sel1l	T	C	12: 91,797,526 (GRCm39)	N234D	probably benign	Het
Setd1a	C	T	7: 127,385,590 (GRCm39)	P766S	possibly damaging	Het
Skida1	T	A	2: 18,050,489 (GRCm39)	K801*	probably null	Het
Slc22a5	G	A	11: 53,774,547 (GRCm39)	T146I	probably benign	Het
Slc25a24	G	T	3: 109,064,268 (GRCm39)	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,733,970 (GRCm39)	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,930,058 (GRCm39)	D46E	probably damaging	Het
Tekt4	C	T	17: 25,690,901 (GRCm39)	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,804,878 (GRCm39)	F239Y	probably benign	Het
Tpp1	T	A	7: 105,400,846 (GRCm39)	R60S	probably benign	Het
Trank1	A	T	9: 111,196,268 (GRCm39)	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,797,519 (GRCm39)	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,568,396 (GRCm39)	S300P	probably damaging	Het
Urah	T	A	7: 140,417,587 (GRCm39)	L119Q	unknown	Het
Uspl1	T	A	5: 149,141,148 (GRCm39)	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,975,574 (GRCm39)	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,640,933 (GRCm39)	V88I	probably benign	Het
Zfp444	T	C	7: 6,191,157 (GRCm39)	S113P	probably damaging	Het
Zfp580	T	G	7: 5,056,152 (GRCm39)	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,577,382 (GRCm39)	I151V	probably benign	Het
Zfp827	T	C	8: 79,818,564 (GRCm39)	F614S	probably damaging	Het
Zic4	A	T	9: 91,260,913 (GRCm39)	Q56L	possibly damaging	Het

Other mutations in Il31ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Il31ra	APN	13	112,684,012 (GRCm39)	missense	possibly damaging	0.94
IGL00639:Il31ra	APN	13	112,686,093 (GRCm39)	nonsense	probably null
IGL01640:Il31ra	APN	13	112,668,292 (GRCm39)	missense	possibly damaging	0.58
IGL02009:Il31ra	APN	13	112,670,401 (GRCm39)	missense	probably damaging	0.98
IGL02431:Il31ra	APN	13	112,666,830 (GRCm39)	missense	probably damaging	1.00
IGL02675:Il31ra	APN	13	112,660,886 (GRCm39)	missense	probably benign	0.00
IGL02718:Il31ra	APN	13	112,666,903 (GRCm39)	nonsense	probably null
IGL03388:Il31ra	APN	13	112,682,746 (GRCm39)	missense	probably damaging	1.00
IGL03408:Il31ra	APN	13	112,662,422 (GRCm39)	missense	probably benign	0.21
R0482:Il31ra	UTSW	13	112,664,015 (GRCm39)	missense	possibly damaging	0.89
R0639:Il31ra	UTSW	13	112,662,377 (GRCm39)	missense	possibly damaging	0.95
R0905:Il31ra	UTSW	13	112,668,207 (GRCm39)	missense	probably damaging	1.00
R0948:Il31ra	UTSW	13	112,666,912 (GRCm39)	missense	possibly damaging	0.81
R1420:Il31ra	UTSW	13	112,668,286 (GRCm39)	missense	probably damaging	1.00
R1538:Il31ra	UTSW	13	112,684,000 (GRCm39)	missense	possibly damaging	0.91
R1776:Il31ra	UTSW	13	112,677,773 (GRCm39)	missense	probably damaging	0.97
R1931:Il31ra	UTSW	13	112,677,756 (GRCm39)	missense	probably damaging	1.00
R2006:Il31ra	UTSW	13	112,666,890 (GRCm39)	missense	probably damaging	1.00
R2134:Il31ra	UTSW	13	112,680,422 (GRCm39)	missense	possibly damaging	0.94
R3103:Il31ra	UTSW	13	112,666,885 (GRCm39)	missense	probably damaging	1.00
R4089:Il31ra	UTSW	13	112,688,453 (GRCm39)	nonsense	probably null
R4742:Il31ra	UTSW	13	112,660,501 (GRCm39)	nonsense	probably null
R4787:Il31ra	UTSW	13	112,664,079 (GRCm39)	missense	possibly damaging	0.82
R5154:Il31ra	UTSW	13	112,660,531 (GRCm39)	missense	possibly damaging	0.87
R5193:Il31ra	UTSW	13	112,660,864 (GRCm39)	missense	probably benign	0.34
R5402:Il31ra	UTSW	13	112,660,669 (GRCm39)	missense	probably benign	0.01
R5743:Il31ra	UTSW	13	112,664,021 (GRCm39)	missense	possibly damaging	0.89
R5917:Il31ra	UTSW	13	112,682,846 (GRCm39)	missense	probably benign
R6126:Il31ra	UTSW	13	112,666,908 (GRCm39)	missense	probably damaging	1.00
R6414:Il31ra	UTSW	13	112,660,441 (GRCm39)	missense	possibly damaging	0.90
R6580:Il31ra	UTSW	13	112,688,476 (GRCm39)	missense	possibly damaging	0.90
R6727:Il31ra	UTSW	13	112,683,902 (GRCm39)	missense	probably damaging	1.00
R6783:Il31ra	UTSW	13	112,688,522 (GRCm39)	critical splice acceptor site	probably null
R6912:Il31ra	UTSW	13	112,685,998 (GRCm39)	missense	probably damaging	0.99
R6925:Il31ra	UTSW	13	112,664,063 (GRCm39)	missense	possibly damaging	0.56
R7187:Il31ra	UTSW	13	112,682,845 (GRCm39)	missense	probably benign	0.04
R7210:Il31ra	UTSW	13	112,686,034 (GRCm39)	missense	possibly damaging	0.95
R7236:Il31ra	UTSW	13	112,660,439 (GRCm39)	makesense	probably null
R7323:Il31ra	UTSW	13	112,688,497 (GRCm39)	missense	probably damaging	1.00
R7618:Il31ra	UTSW	13	112,688,514 (GRCm39)	missense	possibly damaging	0.66
R7783:Il31ra	UTSW	13	112,677,785 (GRCm39)	missense	probably benign
R8353:Il31ra	UTSW	13	112,660,717 (GRCm39)	missense	probably damaging	1.00
R8453:Il31ra	UTSW	13	112,660,717 (GRCm39)	missense	probably damaging	1.00
R8679:Il31ra	UTSW	13	112,662,372 (GRCm39)	missense	possibly damaging	0.81
R8890:Il31ra	UTSW	13	112,660,861 (GRCm39)	missense	possibly damaging	0.95
R9032:Il31ra	UTSW	13	112,660,628 (GRCm39)	missense
R9077:Il31ra	UTSW	13	112,670,361 (GRCm39)	missense	probably benign	0.00
R9085:Il31ra	UTSW	13	112,660,628 (GRCm39)	missense
R9147:Il31ra	UTSW	13	112,670,276 (GRCm39)	missense	probably benign	0.01
R9148:Il31ra	UTSW	13	112,670,276 (GRCm39)	missense	probably benign	0.01
R9158:Il31ra	UTSW	13	112,670,394 (GRCm39)	nonsense	probably null
R9250:Il31ra	UTSW	13	112,669,508 (GRCm39)	missense	probably damaging	1.00
R9260:Il31ra	UTSW	13	112,668,202 (GRCm39)	missense	probably damaging	0.98
R9312:Il31ra	UTSW	13	112,686,023 (GRCm39)	missense	probably benign	0.01
R9381:Il31ra	UTSW	13	112,668,253 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CTTGAACCAGATGGGGCTAC -3'
(R):5'- TGCCAGCAAACATTTGTGTTGG -3'

Sequencing Primer
(F):5'- GTTGAGAACGAGGTACCTACTCTTC -3'
(R):5'- GTGTTGGAAAGATAAACACCTGCTTG -3'

Posted On

2022-02-07