Mutagenetix > Incidental Mutation

Incidental Mutation 'R2520:Csf3r'

254322

Institutional Source

Beutler Lab

Gene Symbol

Csf3r

Ensembl Gene

ENSMUSG00000028859

Gene Name

colony stimulating factor 3 receptor

Synonyms

Csfgr, G-CSFR, Cd114

MMRRC Submission

040424-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125918343-125938233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125929145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 352 (T352S)

Ref Sequence

ENSEMBL: ENSMUSP00000101768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030673] [ENSMUST00000106162]

AlphaFold

P40223

Predicted Effect

probably benign
Transcript: ENSMUST00000030673
AA Change: T352S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: T352S

Domain	Start	End	E-Value	Type
Pfam:Lep_receptor_Ig	24	111	2.3e-30	PFAM
FN3	124	213	5.38e1	SMART
SCOP:d1cd9b2	226	332	3e-15	SMART
Blast:FN3	334	420	3e-30	BLAST
FN3	432	518	2.41e0	SMART
FN3	530	612	1.92e-3	SMART
transmembrane domain	627	649	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106162
AA Change: T352S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: T352S

Domain	Start	End	E-Value	Type
Pfam:Lep_receptor_Ig	22	112	6.8e-30	PFAM
FN3	124	213	5.38e1	SMART
SCOP:d1cd9b2	226	332	3e-15	SMART
Blast:FN3	334	420	3e-30	BLAST
FN3	432	518	2.41e0	SMART
FN3	530	612	1.92e-3	SMART
transmembrane domain	627	649	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153968

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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 receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral neutrophils, with fewer hematopoietic progenitors in bone marrow and impaired expansion and terminal differentiation of progenitors into granulocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,625,773 (GRCm39)	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,356,261 (GRCm39)	R216W	probably damaging	Het
Abcb9	C	T	5: 124,218,091 (GRCm39)		probably null	Het
Arhgdia	A	T	11: 120,470,852 (GRCm39)	V72E	probably damaging	Het
Arsb	A	T	13: 94,077,207 (GRCm39)	K525*	probably null	Het
Bckdha	A	C	7: 25,341,124 (GRCm39)	I79S	probably benign	Het
Carm1	G	A	9: 21,494,893 (GRCm39)		probably null	Het
Cers5	G	A	15: 99,634,262 (GRCm39)	T362I	probably damaging	Het
Clec4b2	T	A	6: 123,177,942 (GRCm39)	F86I	probably damaging	Het
Crispld1	G	A	1: 17,821,000 (GRCm39)	D347N	probably damaging	Het
Daam2	G	A	17: 49,787,785 (GRCm39)	Q443*	probably null	Het
Dcbld1	A	G	10: 52,195,641 (GRCm39)	D283G	probably damaging	Het
Dpp9	T	C	17: 56,513,868 (GRCm39)	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,518,074 (GRCm39)	D42G	probably null	Het
Eml6	T	C	11: 29,741,993 (GRCm39)	H1130R	probably damaging	Het
Enox1	A	T	14: 77,819,839 (GRCm39)	Y198F	probably damaging	Het
Epop	A	G	11: 97,519,554 (GRCm39)	L185P	probably benign	Het
Frem1	A	T	4: 82,868,527 (GRCm39)	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,253,806 (GRCm39)	S571T	probably benign	Het
Gm5965	A	T	16: 88,575,414 (GRCm39)	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642 (GRCm38)	I8L	possibly damaging	Het
Gria2	A	C	3: 80,614,269 (GRCm39)	N590K	probably damaging	Het
Hectd2	T	A	19: 36,589,633 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,619,398 (GRCm39)	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,083,194 (GRCm39)	D167E	probably damaging	Het
Htr1a	A	G	13: 105,581,881 (GRCm39)	S374G	probably benign	Het
Il16	C	T	7: 83,301,202 (GRCm39)	G307S	probably benign	Het
Ipmk	T	C	10: 71,217,047 (GRCm39)	F198S	probably damaging	Het
Lyz2	T	A	10: 117,114,558 (GRCm39)	I124F	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra1	A	T	7: 46,985,020 (GRCm39)	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,204,931 (GRCm39)	K1595*	probably null	Het
Naga	G	T	15: 82,214,295 (GRCm39)	D405E	probably benign	Het
Nanog	T	A	6: 122,690,418 (GRCm39)	N249K	probably benign	Het
Nhlh1	G	T	1: 171,881,570 (GRCm39)	R99S	probably damaging	Het
Ntrk2	T	A	13: 59,202,090 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,354 (GRCm39)	E79G	probably benign	Het
Or2ad1	A	T	13: 21,326,746 (GRCm39)	C160*	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52n2	T	A	7: 104,542,080 (GRCm39)	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,267,464 (GRCm39)	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,285,369 (GRCm39)	V53A	probably damaging	Het
Psmd2	T	G	16: 20,481,826 (GRCm39)	V853G	probably damaging	Het
Pycard	A	G	7: 127,592,677 (GRCm39)	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf168	T	A	16: 32,097,221 (GRCm39)	S99T	probably benign	Het
Rph3al	A	G	11: 75,797,373 (GRCm39)	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,071,526 (GRCm39)	A979T	probably benign	Het
Sec16a	G	A	2: 26,331,368 (GRCm39)	Q216*	probably null	Het
Slc35f3	T	A	8: 127,121,312 (GRCm39)	V391E	possibly damaging	Het
Slf1	T	A	13: 77,199,384 (GRCm39)	I666F	probably damaging	Het
Slfn14	A	G	11: 83,167,013 (GRCm39)	V834A	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tbc1d10b	A	G	7: 126,799,455 (GRCm39)		probably null	Het
Tmeff1	T	A	4: 48,604,679 (GRCm39)	C91S	probably damaging	Het
Tmem108	G	T	9: 103,366,481 (GRCm39)	N503K	possibly damaging	Het
Trbv28	A	G	6: 41,248,541 (GRCm39)	T24A	probably damaging	Het
Trim34b	A	G	7: 103,980,446 (GRCm39)	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,329,696 (GRCm39)	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,523,799 (GRCm39)	I153V	probably benign	Het
Ttll13	T	C	7: 79,899,964 (GRCm39)	V101A	probably damaging	Het
Ubash3b	A	T	9: 40,926,243 (GRCm39)	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,846,443 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,352,562 (GRCm39)	S94G	probably benign	Het
Wdr86	T	C	5: 24,917,573 (GRCm39)	*381W	probably null	Het
Wdr90	G	A	17: 26,074,326 (GRCm39)	P680S	probably damaging	Het
Zbtb22	G	A	17: 34,135,956 (GRCm39)	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,253,689 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,231,295 (GRCm39)	V295A	probably damaging	Het
Zfp608	A	T	18: 55,121,578 (GRCm39)	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,694,781 (GRCm39)	D32E	possibly damaging	Het

Other mutations in Csf3r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Csf3r	APN	4	125,925,920 (GRCm39)	nonsense	probably null
IGL02224:Csf3r	APN	4	125,937,332 (GRCm39)	missense	probably benign	0.36
IGL02558:Csf3r	APN	4	125,931,928 (GRCm39)	splice site	probably benign
R0026:Csf3r	UTSW	4	125,925,677 (GRCm39)	missense	probably benign	0.33
R0033:Csf3r	UTSW	4	125,925,677 (GRCm39)	missense	probably benign	0.33
R0033:Csf3r	UTSW	4	125,925,677 (GRCm39)	missense	probably benign	0.33
R0121:Csf3r	UTSW	4	125,923,642 (GRCm39)	missense	probably benign	0.01
R0413:Csf3r	UTSW	4	125,933,460 (GRCm39)	splice site	probably benign
R0456:Csf3r	UTSW	4	125,929,654 (GRCm39)	missense	probably damaging	0.98
R0479:Csf3r	UTSW	4	125,937,616 (GRCm39)	missense	probably damaging	0.98
R1052:Csf3r	UTSW	4	125,936,781 (GRCm39)	splice site	probably null
R1466:Csf3r	UTSW	4	125,925,725 (GRCm39)	splice site	probably benign
R1512:Csf3r	UTSW	4	125,923,777 (GRCm39)	missense	possibly damaging	0.75
R1902:Csf3r	UTSW	4	125,936,711 (GRCm39)	missense	probably damaging	1.00
R1905:Csf3r	UTSW	4	125,936,538 (GRCm39)	missense	probably benign	0.12
R3424:Csf3r	UTSW	4	125,937,549 (GRCm39)	missense	probably damaging	1.00
R3705:Csf3r	UTSW	4	125,926,078 (GRCm39)	missense	possibly damaging	0.76
R3907:Csf3r	UTSW	4	125,928,240 (GRCm39)	missense	probably benign	0.00
R4514:Csf3r	UTSW	4	125,933,653 (GRCm39)	missense	possibly damaging	0.61
R4817:Csf3r	UTSW	4	125,931,449 (GRCm39)	nonsense	probably null
R5111:Csf3r	UTSW	4	125,923,861 (GRCm39)	splice site	probably null
R5120:Csf3r	UTSW	4	125,929,620 (GRCm39)	missense	probably benign	0.00
R5308:Csf3r	UTSW	4	125,929,137 (GRCm39)	missense	probably benign	0.00
R5912:Csf3r	UTSW	4	125,923,753 (GRCm39)	missense	probably damaging	1.00
R6018:Csf3r	UTSW	4	125,937,414 (GRCm39)	missense	probably benign	0.01
R6024:Csf3r	UTSW	4	125,931,310 (GRCm39)	splice site	probably null
R7144:Csf3r	UTSW	4	125,937,515 (GRCm39)	missense	probably benign	0.03
R7615:Csf3r	UTSW	4	125,931,449 (GRCm39)	nonsense	probably null
R7717:Csf3r	UTSW	4	125,931,403 (GRCm39)	missense	probably damaging	1.00
R8443:Csf3r	UTSW	4	125,923,712 (GRCm39)	missense	possibly damaging	0.77
R8935:Csf3r	UTSW	4	125,937,200 (GRCm39)	missense	probably benign	0.00
R9131:Csf3r	UTSW	4	125,923,813 (GRCm39)	missense	probably benign
R9383:Csf3r	UTSW	4	125,937,239 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AAGGCTCAAGAAAGTAAATGTCCT -3'
(R):5'- CATTGCAGTCTCTCCCCAAG -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- AGGCCACTACCCAGCTTCTG -3'

Posted On

2014-12-04