Mutagenetix > Incidental Mutation

Incidental Mutation 'R5580:Csf2ra'

501184

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

043134-MU

Accession Numbers

Essential gene?

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

Stock #

R5580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61212395-61216867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61214655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 223 (L223P)

Ref Sequence

ENSEMBL: ENSMUSP00000075423 (fasta)

Gene Model

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

AlphaFold

Q00941

Predicted Effect

probably damaging
Transcript: ENSMUST00000076046
AA Change: L223P

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

SMART Domains

Protein: ENSMUSP00000075423
Gene: ENSMUSG00000059326
AA Change: L223P

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	A	G	7: 43,900,664 (GRCm39)	T73A	possibly damaging	Het
A1bg	A	T	15: 60,790,881 (GRCm39)	V365E	probably benign	Het
Abcg5	A	C	17: 84,967,582 (GRCm39)	V406G	probably damaging	Het
Adamts12	A	G	15: 11,152,086 (GRCm39)	Y192C	probably benign	Het
Add3	C	T	19: 53,233,642 (GRCm39)	S649L	probably damaging	Het
Adgrg6	A	T	10: 14,286,228 (GRCm39)	C1129*	probably null	Het
Arsb	T	A	13: 93,944,053 (GRCm39)	V248D	probably damaging	Het
AW554918	A	T	18: 25,472,922 (GRCm39)	N39I	probably damaging	Het
Cacna1b	A	T	2: 24,540,566 (GRCm39)	I1383N	probably damaging	Het
Caprin2	A	T	6: 148,760,232 (GRCm39)	V625D	possibly damaging	Het
Cd9	A	G	6: 125,441,420 (GRCm39)	L67P	probably damaging	Het
Cdh5	T	A	8: 104,852,126 (GRCm39)	Y80*	probably null	Het
Cyp2c67	T	C	19: 39,604,094 (GRCm39)	K421E	probably damaging	Het
Dzank1	T	C	2: 144,348,098 (GRCm39)	R223G	probably damaging	Het
Emilin2	A	G	17: 71,582,225 (GRCm39)	V167A	probably benign	Het
Eps8l3	A	G	3: 107,788,919 (GRCm39)	T81A	probably damaging	Het
Esrra	T	C	19: 6,897,755 (GRCm39)	M1V	probably null	Het
Evpl	C	A	11: 116,125,058 (GRCm39)	A135S	probably benign	Het
Fam193a	A	G	5: 34,578,132 (GRCm39)	I209V	probably benign	Het
Fbxl19	C	A	7: 127,350,168 (GRCm39)	C253*	probably null	Het
Fer1l5	T	A	1: 36,424,539 (GRCm39)	Y305*	probably null	Het
Fzd2	A	C	11: 102,496,665 (GRCm39)	I370L	probably damaging	Het
Gnl3	T	C	14: 30,737,242 (GRCm39)	K212R	probably benign	Het
Golm1	A	G	13: 59,790,179 (GRCm39)	L207P	probably benign	Het
Gphn	T	A	12: 78,538,818 (GRCm39)	F155I	probably damaging	Het
Grhl1	G	A	12: 24,659,739 (GRCm39)	G500S	probably benign	Het
Gucd1	C	A	10: 75,346,968 (GRCm39)	G55V	possibly damaging	Het
Haus6	A	T	4: 86,517,503 (GRCm39)	I287K	possibly damaging	Het
Hmcn1	G	A	1: 150,453,290 (GRCm39)	P5342S	probably benign	Het
Hspa12a	A	G	19: 58,788,092 (GRCm39)	S577P	probably benign	Het
Ido2	T	A	8: 25,040,882 (GRCm39)	I113F	possibly damaging	Het
Ifrd2	C	T	9: 107,469,511 (GRCm39)	P396S	probably damaging	Het
Igkv4-86	T	A	6: 68,887,990 (GRCm39)		probably benign	Het
Ipo11	A	G	13: 107,037,255 (GRCm39)	V196A	probably benign	Het
Itih2	T	C	2: 10,128,287 (GRCm39)	E138G	probably damaging	Het
Kidins220	T	G	12: 25,097,896 (GRCm39)	C1179G	probably benign	Het
Kif20b	T	A	19: 34,927,128 (GRCm39)		probably null	Het
Klk1	T	A	7: 43,878,238 (GRCm39)	Y63N	probably benign	Het
L3mbtl3	T	G	10: 26,179,604 (GRCm39)	D517A	unknown	Het
Lars1	G	T	18: 42,347,916 (GRCm39)	P969H	probably damaging	Het
Lrp1	C	T	10: 127,424,389 (GRCm39)	V766I	probably benign	Het
Lrrc8c	A	G	5: 105,755,553 (GRCm39)	I443V	probably benign	Het
Lsg1	T	C	16: 30,387,985 (GRCm39)	M439V	probably null	Het
Magi2	T	A	5: 20,420,422 (GRCm39)	M286K	probably benign	Het
Med11	T	C	11: 70,342,891 (GRCm39)		probably null	Het
Med13l	A	G	5: 118,889,695 (GRCm39)	K1819E	possibly damaging	Het
Ms4a14	T	A	19: 11,280,590 (GRCm39)	Q656L	probably benign	Het
Muc5b	A	G	7: 141,415,084 (GRCm39)	T2677A	possibly damaging	Het
Myo7a	A	T	7: 97,722,367 (GRCm39)	L1186H	probably damaging	Het
Naca	C	A	10: 127,876,462 (GRCm39)		probably benign	Het
Nbeal1	T	C	1: 60,281,761 (GRCm39)	I828T	probably benign	Het
Ncor1	A	T	11: 62,280,604 (GRCm39)	C75*	probably null	Het
Nepn	A	C	10: 52,280,398 (GRCm39)	S497R	probably damaging	Het
Nf2	A	G	11: 4,753,689 (GRCm39)	F222L	probably damaging	Het
Nlrp9b	A	C	7: 19,757,089 (GRCm39)	T109P	probably damaging	Het
Nr1h4	A	T	10: 89,352,302 (GRCm39)	F22I	probably benign	Het
Ogg1	A	G	6: 113,306,337 (GRCm39)	Y178C	probably damaging	Het
Or1e22	G	T	11: 73,377,036 (GRCm39)	P205T	probably benign	Het
Or4b12	C	A	2: 90,096,694 (GRCm39)	V27L	probably benign	Het
Or5b119	T	A	19: 13,456,791 (GRCm39)	Y257F	probably damaging	Het
Or5b21	G	A	19: 12,839,168 (GRCm39)	V10M	possibly damaging	Het
Or5d14	A	T	2: 87,880,668 (GRCm39)	M100K	possibly damaging	Het
Osr1	G	A	12: 9,629,325 (GRCm39)	R66Q	probably damaging	Het
Pi4ka	A	G	16: 17,098,951 (GRCm39)	S1978P	probably damaging	Het
Pik3c2g	A	T	6: 139,603,531 (GRCm39)	Q239L	probably damaging	Het
Pin1rt1	A	G	2: 104,544,670 (GRCm39)	I154T	probably damaging	Het
Pkdcc	A	G	17: 83,527,511 (GRCm39)	T230A	probably damaging	Het
Por	A	T	5: 135,762,675 (GRCm39)	I430F	probably damaging	Het
Prb1c	T	C	6: 132,338,432 (GRCm39)	N262S	unknown	Het
Prkcsh	T	A	9: 21,922,551 (GRCm39)		probably null	Het
Pros1	A	G	16: 62,746,689 (GRCm39)		probably null	Het
Pus10	T	A	11: 23,622,556 (GRCm39)	L59I	probably benign	Het
Pxmp2	A	G	5: 110,431,542 (GRCm39)	V67A	possibly damaging	Het
Rab3gap1	C	A	1: 127,858,727 (GRCm39)	A612E	probably benign	Het
Rpap2	A	G	5: 107,768,011 (GRCm39)	E206G	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Ryr3	C	T	2: 112,672,293 (GRCm39)	G1393R	probably damaging	Het
Scara5	T	C	14: 65,968,528 (GRCm39)	M267T	probably benign	Het
Sema5a	A	T	15: 32,575,031 (GRCm39)	I380F	probably benign	Het
Slc36a3	A	G	11: 55,026,279 (GRCm39)	S180P	probably benign	Het
Slc44a5	A	G	3: 153,966,922 (GRCm39)	K536R	probably benign	Het
Smg1	T	C	7: 117,748,125 (GRCm39)		probably benign	Het
Spata31d1e	A	T	13: 59,890,070 (GRCm39)	D583E	probably benign	Het
Strc	T	C	2: 121,205,493 (GRCm39)	K879R	probably damaging	Het
Swt1	T	C	1: 151,260,206 (GRCm39)	E731G	probably benign	Het
Syngap1	G	A	17: 27,181,305 (GRCm39)	A9T	probably damaging	Het
Tex15	C	T	8: 34,062,457 (GRCm39)	T903I	probably damaging	Het
Tg	A	G	15: 66,557,149 (GRCm39)	I937V	possibly damaging	Het
Tm9sf4	T	C	2: 153,024,350 (GRCm39)	Y58H	probably damaging	Het
Tsen2	A	T	6: 115,554,941 (GRCm39)	D458V	probably damaging	Het
Ttn	T	A	2: 76,748,146 (GRCm39)	D4301V	probably benign	Het
Txk	C	A	5: 72,864,932 (GRCm39)	L314F	probably damaging	Het
Ube3b	A	G	5: 114,553,384 (GRCm39)	T919A	probably benign	Het
Ubn2	A	G	6: 38,460,187 (GRCm39)	M641V	probably damaging	Het
Usp4	C	T	9: 108,243,058 (GRCm39)	T242I	probably benign	Het
Usp53	A	G	3: 122,727,883 (GRCm39)	S900P	probably benign	Het
Vmn1r225	T	C	17: 20,723,101 (GRCm39)	Y181H	probably damaging	Het
Vmn1r83	T	A	7: 12,055,800 (GRCm39)	I86L	probably benign	Het
Vmn2r65	T	C	7: 84,596,802 (GRCm39)	I84M	probably damaging	Het
Vstm2b	A	G	7: 40,552,050 (GRCm39)	H126R	probably damaging	Het
Zfp524	A	T	7: 5,021,416 (GRCm39)	I315F	probably benign	Het
Zfp975	A	T	7: 42,314,513 (GRCm39)	L20*	probably null	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
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
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'- TGGACCTCAAACTGGAAGTCCC -3'
(R):5'- GAACCCGCTATGACGTCATC -3'

Sequencing Primer
(F):5'- TCAAGGATGCCCAGGTCGAG -3'
(R):5'- TATGACGTCATCGCTGGC -3'

Posted On

2017-12-01