Mutagenetix > Incidental Mutation

Incidental Mutation 'R5887:Csf2ra'

456195

Institutional Source

Beutler Lab

Gene Symbol

Csf2ra

Ensembl Gene

ENSMUSG00000059326

Gene Name

colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)

Synonyms

GM-CSF-Ra, GM-CSFRalpha, Csfgmra, CD116

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5887 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

61212395-61216867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61215766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 13 (A13V)

Ref Sequence

ENSEMBL: ENSMUSP00000075423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076046]

AlphaFold

Q00941

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076046
AA Change: A13V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: A13V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:IL6Ra-bind	129	223	5.2e-23	PFAM
FN3	226	311	9.19e-1	SMART
transmembrane domain	326	348	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

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 is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,892,124 (GRCm39)	Q129*	probably null	Het
Acad8	A	T	9: 26,890,620 (GRCm39)		probably null	Het
AK157302	T	C	13: 21,679,579 (GRCm39)	I35T	possibly damaging	Het
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Calcrl	A	T	2: 84,200,841 (GRCm39)	W68R	probably damaging	Het
Cd200l1	T	A	16: 45,238,279 (GRCm39)	L178F	probably damaging	Het
Cd59a	A	G	2: 103,934,546 (GRCm39)	R5G	probably damaging	Het
Chl1	C	T	6: 103,694,565 (GRCm39)	A1091V	probably benign	Het
Copg1	T	C	6: 87,879,279 (GRCm39)	F442L	probably damaging	Het
Creld1	T	C	6: 113,469,860 (GRCm39)	*421Q	probably null	Het
Crocc2	T	A	1: 93,121,838 (GRCm39)	H662Q	possibly damaging	Het
Cul3	T	C	1: 80,254,139 (GRCm39)	T546A	possibly damaging	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Dock6	T	A	9: 21,731,690 (GRCm39)	H1173L	probably damaging	Het
Dpysl4	T	C	7: 138,676,192 (GRCm39)	I328T	possibly damaging	Het
Dspp	G	A	5: 104,323,321 (GRCm39)	G155R	probably damaging	Het
Fbxo33	A	T	12: 59,251,545 (GRCm39)	C57*	probably null	Het
Frrs1	T	A	3: 116,690,399 (GRCm39)	V14D	probably benign	Het
Gm13199	C	T	2: 5,867,113 (GRCm39)	G96S	unknown	Het
Gpr155	A	T	2: 73,174,062 (GRCm39)	C754*	probably null	Het
Gpr62	A	T	9: 106,342,814 (GRCm39)	V38E	probably damaging	Het
Kcnt2	C	A	1: 140,353,104 (GRCm39)	P271H	probably damaging	Het
Kpna3	C	T	14: 61,640,461 (GRCm39)	V34I	probably benign	Het
Lamb1	C	T	12: 31,316,863 (GRCm39)	Q71*	probably null	Het
Lipk	T	C	19: 34,016,507 (GRCm39)	I245T	possibly damaging	Het
Lrp1b	T	G	2: 40,711,719 (GRCm39)	N3281T	possibly damaging	Het
Lrp5	A	C	19: 3,654,094 (GRCm39)	I1111S	probably benign	Het
Mmrn1	T	C	6: 60,964,058 (GRCm39)	V1020A	probably benign	Het
Or4c107	G	A	2: 88,789,098 (GRCm39)	C96Y	possibly damaging	Het
Or8b48	G	A	9: 38,493,080 (GRCm39)	C169Y	probably damaging	Het
Or8g34	T	C	9: 39,372,787 (GRCm39)	L17P	probably damaging	Het
Pcdha7	A	T	18: 37,108,960 (GRCm39)	T662S	probably damaging	Het
Pcdhga6	A	G	18: 37,841,612 (GRCm39)	D444G	probably damaging	Het
Pkd2	T	G	5: 104,646,405 (GRCm39)	D737E	probably damaging	Het
Plcd4	C	T	1: 74,590,249 (GRCm39)	R161W	probably damaging	Het
Prpf8	A	G	11: 75,391,734 (GRCm39)	Y1494C	possibly damaging	Het
Rad17	A	C	13: 100,770,369 (GRCm39)		probably null	Het
Rbm17	A	T	2: 11,590,485 (GRCm39)	F390Y	probably damaging	Het
Rhod	A	T	19: 4,489,315 (GRCm39)	L22Q	probably damaging	Het
Serpina1f	T	C	12: 103,656,046 (GRCm39)	D394G	possibly damaging	Het
Serpina1f	G	A	12: 103,659,890 (GRCm39)	Q131*	probably null	Het
Spocd1	A	T	4: 129,842,752 (GRCm39)	S56C	probably damaging	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Tasor	T	A	14: 27,188,254 (GRCm39)	L900*	probably null	Het
Tbx18	T	C	9: 87,595,566 (GRCm39)	D336G	possibly damaging	Het
Tfg	A	T	16: 56,514,779 (GRCm39)	Y135*	probably null	Het
Tjp2	A	G	19: 24,073,963 (GRCm39)	L1108P	probably benign	Het
Tmem150c	C	A	5: 100,243,524 (GRCm39)	V8L	probably benign	Het
Ttn	A	T	2: 76,746,789 (GRCm39)	H4753Q	probably benign	Het
Tyw1	T	A	5: 130,354,540 (GRCm39)	I589N	probably damaging	Het
Usp40	C	T	1: 87,927,592 (GRCm39)	R139Q	probably damaging	Het
Zgrf1	A	G	3: 127,378,414 (GRCm39)	Y174C	probably damaging	Het

Other mutations in Csf2ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Csf2ra	APN	19	61,215,271 (GRCm39)	missense	possibly damaging	0.87
IGL01465:Csf2ra	APN	19	61,214,436 (GRCm39)	missense	possibly damaging	0.95
IGL01693:Csf2ra	APN	19	61,214,434 (GRCm39)	missense	possibly damaging	0.57
IGL02474:Csf2ra	APN	19	61,214,975 (GRCm39)	missense	possibly damaging	0.95
IGL02950:Csf2ra	APN	19	61,215,607 (GRCm39)	missense	probably benign	0.01
R0054:Csf2ra	UTSW	19	61,215,035 (GRCm39)	missense	probably damaging	1.00
R0201:Csf2ra	UTSW	19	61,214,006 (GRCm39)	missense	probably benign	0.14
R0452:Csf2ra	UTSW	19	61,215,333 (GRCm39)	missense	probably benign	0.02
R1735:Csf2ra	UTSW	19	61,214,782 (GRCm39)	missense	probably damaging	0.99
R2016:Csf2ra	UTSW	19	61,215,331 (GRCm39)	missense	probably benign	0.01
R2157:Csf2ra	UTSW	19	61,215,509 (GRCm39)	missense	probably benign	0.05
R3149:Csf2ra	UTSW	19	61,215,758 (GRCm39)	missense	possibly damaging	0.83
R3150:Csf2ra	UTSW	19	61,215,758 (GRCm39)	missense	possibly damaging	0.83
R4747:Csf2ra	UTSW	19	61,214,491 (GRCm39)	nonsense	probably null
R4825:Csf2ra	UTSW	19	61,214,990 (GRCm39)	missense	probably benign	0.10
R5580:Csf2ra	UTSW	19	61,214,655 (GRCm39)	missense	probably damaging	1.00
R5831:Csf2ra	UTSW	19	61,213,650 (GRCm39)	missense	probably damaging	1.00
R7105:Csf2ra	UTSW	19	61,213,458 (GRCm39)	missense	possibly damaging	0.61
R7123:Csf2ra	UTSW	19	61,215,300 (GRCm39)	missense	probably damaging	1.00
R7419:Csf2ra	UTSW	19	61,215,491 (GRCm39)	missense	possibly damaging	0.94
R7721:Csf2ra	UTSW	19	61,215,024 (GRCm39)	missense	probably damaging	1.00
R8918:Csf2ra	UTSW	19	61,214,721 (GRCm39)	missense	probably damaging	1.00
R8972:Csf2ra	UTSW	19	61,213,597 (GRCm39)	missense	probably null	0.09
R9320:Csf2ra	UTSW	19	61,215,280 (GRCm39)	missense	possibly damaging	0.68
R9686:Csf2ra	UTSW	19	61,213,629 (GRCm39)	missense	probably damaging	1.00
Z1177:Csf2ra	UTSW	19	61,213,591 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGACATCATTGCGGGACAAG -3'
(R):5'- GGGAATCAATAGGATAACGTCACC -3'

Sequencing Primer
(F):5'- TCACGGTGCATGACGTCAC -3'
(R):5'- GCATGGCTCAGATGGCAG -3'

Posted On

2017-02-15