Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Csf3r'

43257

Institutional Source

Beutler Lab

Gene Symbol

Csf3r

Ensembl Gene

ENSMUSG00000028859

Gene Name

colony stimulating factor 3 receptor

Synonyms

Csfgr, G-CSFR, Cd114

MMRRC Submission

038679-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

125918343-125938233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125937616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 833 (E833D)

Ref Sequence

ENSEMBL: ENSMUSP00000101768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030673] [ENSMUST00000030675] [ENSMUST00000106162]

AlphaFold

P40223

Predicted Effect

probably damaging
Transcript: ENSMUST00000030673
AA Change: E833D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: E833D

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: ENSMUST00000030675

SMART Domains

Protein: ENSMUSP00000030675
Gene: ENSMUSG00000028861

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
Ribosomal_S15	108	189	4.27e-16	SMART
coiled coil region	211	242	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106162
AA Change: E833D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: E833D

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: ENSMUST00000124614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140426

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Enpep	A	G	3: 129,106,323 (GRCm39)	V301A	possibly damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,947,911 (GRCm39)	D488G	probably damaging	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
P2rx1	T	C	11: 72,903,787 (GRCm39)	V283A	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prpf6	A	G	2: 181,292,920 (GRCm39)	N794S	probably benign	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Sacs	T	A	14: 61,428,928 (GRCm39)	L329Q	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643 (GRCm38)	F469L	probably damaging	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	probably 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
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
R2520:Csf3r	UTSW	4	125,929,145 (GRCm39)	missense	probably benign	0.06
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'- GCAGTACATTCGCTCTGACTCCAC -3'
(R):5'- TGGTGACCATTGGGCTGTAAGC -3'

Sequencing Primer
(F):5'- GCTCTGACTCCACTCAGC -3'
(R):5'- ACCATTGGGCTGTAAGCAGTATC -3'

Posted On

2013-05-23