Mutagenetix > Incidental Mutation

Incidental Mutation 'R7721:Csf2ra'

595254

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

045777-MU

Accession Numbers

Essential gene?

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

Stock #

R7721 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61212395-61216867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61215024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 147 (W147R)

Ref Sequence

ENSEMBL: ENSMUSP00000075423 (fasta)

Gene Model

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

AlphaFold

Q00941

Predicted Effect

probably damaging
Transcript: ENSMUST00000076046
AA Change: W147R

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

SMART Domains

Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: W147R

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

Meta Mutation Damage Score

0.7529

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,784,929 (GRCm39)		probably null	Het
Adamtsl3	T	G	7: 82,255,728 (GRCm39)	M1580R	possibly damaging	Het
Alg9	T	C	9: 50,687,942 (GRCm39)	I78T	probably damaging	Het
Ankmy2	G	T	12: 36,207,143 (GRCm39)		probably benign	Het
Ankrd11	G	T	8: 123,621,498 (GRCm39)	L785M	probably damaging	Het
Atrnl1	T	A	19: 57,684,763 (GRCm39)	D796E	probably benign	Het
C1s2	A	G	6: 124,607,017 (GRCm39)	V277A	possibly damaging	Het
Ccdc121rt3	A	G	5: 112,503,383 (GRCm39)	I107T	probably benign	Het
Cldn15	A	G	5: 136,997,015 (GRCm39)	M19V	probably benign	Het
Cldn23	T	G	8: 36,293,417 (GRCm39)	S24R	possibly damaging	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Ctsb	G	T	14: 63,370,765 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,088,874 (GRCm39)	M34T	probably benign	Het
Dmtf1	T	C	5: 9,176,564 (GRCm39)	I463V	probably damaging	Het
Dnah7a	T	A	1: 53,670,842 (GRCm39)	D470V	probably benign	Het
Dtx4	A	G	19: 12,459,500 (GRCm39)	S435P	probably benign	Het
Ear2	T	A	14: 44,340,495 (GRCm39)	M51K	probably damaging	Het
Efcab3	T	A	11: 104,615,366 (GRCm39)	L711*	probably null	Het
Elmo1	T	A	13: 20,464,973 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,593,794 (GRCm39)	I124N	probably damaging	Het
Gkap1	A	C	13: 58,384,799 (GRCm39)		probably null	Het
Glipr2	T	C	4: 43,957,770 (GRCm39)	S4P	probably benign	Het
Gm38119	A	T	3: 92,645,337 (GRCm39)	C86S	unknown	Het
Gpr171	T	G	3: 59,005,320 (GRCm39)	I152L	probably benign	Het
Hes7	T	A	11: 69,012,352 (GRCm39)	T9S	unknown	Het
Homer3	T	C	8: 70,743,662 (GRCm39)	V180A	probably benign	Het
Irx1	T	A	13: 72,108,176 (GRCm39)	M169L	probably benign	Het
Kap	A	G	6: 133,828,690 (GRCm39)		probably null	Het
Mgat5b	A	G	11: 116,857,627 (GRCm39)	M2V		Het
Mob4	C	T	1: 55,187,479 (GRCm39)	Q76*	probably null	Het
Or10w3	T	A	19: 13,704,207 (GRCm39)	I194N	possibly damaging	Het
Or8b47	A	T	9: 38,435,013 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,096,056 (GRCm39)	D191G	probably benign	Het
Pate14	C	T	9: 36,549,159 (GRCm39)	G34R	possibly damaging	Het
Pcdha9	A	T	18: 37,132,689 (GRCm39)	Q586L	probably benign	Het
Pgk2	T	A	17: 40,518,409 (GRCm39)	I340F	probably benign	Het
Prex1	G	A	2: 166,419,810 (GRCm39)	Q1289*	probably null	Het
Prr22	A	G	17: 57,078,819 (GRCm39)	D324G	possibly damaging	Het
Rab2b	A	T	14: 52,501,217 (GRCm39)	S201T	probably benign	Het
Rdh1	T	A	10: 127,596,121 (GRCm39)		probably null	Het
Rhbdl1	G	T	17: 26,055,123 (GRCm39)	N82K	probably benign	Het
Rspo1	C	A	4: 124,885,210 (GRCm39)	Q29K	possibly damaging	Het
Rtp3	A	T	9: 110,814,948 (GRCm39)	Y472*	probably null	Het
Senp5	T	A	16: 31,809,252 (GRCm39)	M1L	unknown	Het
Slfn4	A	T	11: 83,078,389 (GRCm39)		probably null	Het
Stab1	A	G	14: 30,863,413 (GRCm39)	V2091A	possibly damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tpr	A	G	1: 150,320,180 (GRCm39)	T2243A	probably benign	Het
Tubgcp6	A	T	15: 88,985,604 (GRCm39)	N1544K	probably damaging	Het
Uqcc1	T	C	2: 155,700,066 (GRCm39)	N202S	probably benign	Het
Vmn2r18	C	T	5: 151,510,158 (GRCm39)	E72K	possibly damaging	Het
Zfp654	C	A	16: 64,606,570 (GRCm39)	C3F	probably damaging	Het
Zfp804b	T	C	5: 6,821,263 (GRCm39)	E600G	possibly 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
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
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'- GCAATGCACTGTGTGATGAC -3'
(R):5'- ACGCTGGATGTCAATGGCAC -3'

Sequencing Primer
(F):5'- TCGTGACCCCTGGAGAGAG -3'
(R):5'- ATGTCAATGGCACGGTCG -3'

Posted On

2019-11-12