Mutagenetix > Incidental Mutation

Incidental Mutation 'R8918:Csf2ra'

679089

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

MMRRC Submission

068705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R8918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61212395-61216867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61214721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 201 (V201D)

Ref Sequence

ENSEMBL: ENSMUSP00000075423 (fasta)

Gene Model

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

AlphaFold

Q00941

Predicted Effect

probably damaging
Transcript: ENSMUST00000076046
AA Change: V201D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: V201D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,333,315 (GRCm39)	F480L	probably damaging	Het
Actr6	A	T	10: 89,553,057 (GRCm39)	I267N	probably damaging	Het
Ank2	A	G	3: 126,737,380 (GRCm39)	S2835P	unknown	Het
Arfgef3	C	T	10: 18,511,453 (GRCm39)	R753Q	probably benign	Het
Arid3a	A	G	10: 79,784,765 (GRCm39)	T285A	probably benign	Het
Atad5	T	C	11: 79,986,473 (GRCm39)	V520A	probably benign	Het
Atoh1	T	G	6: 64,707,241 (GRCm39)	L312R	probably damaging	Het
Brd10	T	C	19: 29,696,841 (GRCm39)	K884R	possibly damaging	Het
Cpt1a	T	C	19: 3,408,258 (GRCm39)	V179A		Het
Crocc2	C	A	1: 93,129,144 (GRCm39)	N816K	possibly damaging	Het
Dok1	C	T	6: 83,008,324 (GRCm39)	V453I	probably benign	Het
Elp4	A	G	2: 105,662,600 (GRCm39)	S175P	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Etl4	G	A	2: 20,748,733 (GRCm39)	S357N	probably benign	Het
Etl4	A	G	2: 20,811,246 (GRCm39)	T1478A	probably benign	Het
Gabra1	A	G	11: 42,026,320 (GRCm39)	F324S	probably damaging	Het
Gm11437	T	C	11: 84,043,530 (GRCm39)	T254A	probably benign	Het
Gria2	T	C	3: 80,599,706 (GRCm39)	E726G	probably damaging	Het
Gstm2	A	T	3: 107,892,382 (GRCm39)	C115S	possibly damaging	Het
Ighv1-12	T	C	12: 114,579,553 (GRCm39)	T90A	probably damaging	Het
Inf2	A	G	12: 112,572,703 (GRCm39)	I690V	unknown	Het
Kdm3b	A	G	18: 34,970,650 (GRCm39)	N1739S	probably damaging	Het
Lrp1b	A	T	2: 40,615,893 (GRCm39)	N3614K		Het
Mapk8ip3	A	G	17: 25,131,727 (GRCm39)	L404P	probably damaging	Het
Mcl1	T	C	3: 95,567,192 (GRCm39)	F251S	probably damaging	Het
Mdn1	T	A	4: 32,744,579 (GRCm39)	L4038*	probably null	Het
Mmp8	T	C	9: 7,561,485 (GRCm39)	V163A	probably benign	Het
Myo18b	C	T	5: 113,022,873 (GRCm39)		probably benign	Het
Ndst1	C	T	18: 60,825,083 (GRCm39)	R745H	probably benign	Het
Or4d2b	A	G	11: 87,780,284 (GRCm39)	V146A	probably benign	Het
Or8c18	T	C	9: 38,203,385 (GRCm39)	F48S	probably benign	Het
Pard3	C	T	8: 128,098,011 (GRCm39)	R351C	probably benign	Het
Pcdhgb4	A	G	18: 37,855,648 (GRCm39)	D681G	probably damaging	Het
Pde10a	G	A	17: 9,160,063 (GRCm39)	A163T	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pelp1	A	G	11: 70,296,505 (GRCm39)	L123S	probably damaging	Het
Plekhh2	A	G	17: 84,906,621 (GRCm39)	D1152G	possibly damaging	Het
Rag1	T	C	2: 101,472,098 (GRCm39)	T1015A	probably benign	Het
Rock2	C	T	12: 16,990,422 (GRCm39)	Q115*	probably null	Het
Rorb	T	A	19: 18,915,356 (GRCm39)	H434L	probably damaging	Het
Safb2	A	T	17: 56,882,975 (GRCm39)	C219*	probably null	Het
Sema3a	A	G	5: 13,573,099 (GRCm39)	H209R	probably damaging	Het
Serpinb9g	T	G	13: 33,679,131 (GRCm39)	S334A	probably benign	Het
Slc5a9	T	A	4: 111,741,147 (GRCm39)	M500L	probably benign	Het
Snap91	A	G	9: 86,651,611 (GRCm39)	S810P	unknown	Het
Spink5	G	T	18: 44,100,087 (GRCm39)	A35S	probably damaging	Het
Stxbp5l	G	A	16: 36,954,892 (GRCm39)	T887I		Het
Tacc2	T	C	7: 130,227,823 (GRCm39)	F1503L	probably benign	Het
Tectb	A	G	19: 55,180,000 (GRCm39)	E272G	probably damaging	Het
Trdn	A	T	10: 33,015,117 (GRCm39)	I24F	probably benign	Het
Tshr	G	A	12: 91,504,211 (GRCm39)	S383N	probably benign	Het
Tspan1	C	A	4: 116,020,970 (GRCm39)	C149F	probably damaging	Het
Ttn	A	T	2: 76,570,862 (GRCm39)	L26677Q	probably damaging	Het
Ush2a	T	A	1: 188,270,017 (GRCm39)	F1755I	possibly damaging	Het
Vps13d	T	A	4: 144,772,873 (GRCm39)	I4047F		Het
Zfp1010	A	C	2: 176,958,551 (GRCm39)	S29R	probably benign	Het
Zfp369	T	A	13: 65,443,529 (GRCm39)	L336*	probably null	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp984	T	C	4: 147,840,623 (GRCm39)	H76R	possibly damaging	Het
Zscan10	G	A	17: 23,826,116 (GRCm39)	G138S	probably benign	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
R5887:Csf2ra	UTSW	19	61,215,766 (GRCm39)	missense	possibly damaging	0.92
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
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'- GGCTGTCACTCACAATTCCC -3'
(R):5'- GTTGGCCAATCACGTCATC -3'

Sequencing Primer
(F):5'- GCCTCATGCTTGCCAATCATG -3'
(R):5'- TCATCACGTCGCCGGTGAC -3'

Posted On

2021-08-02