Mutagenetix > Incidental Mutation

Incidental Mutation 'R4817:Csf3r'

369893

Institutional Source

Beutler Lab

Gene Symbol

Csf3r

Ensembl Gene

ENSMUSG00000028859

Gene Name

colony stimulating factor 3 receptor

Synonyms

Csfgr, G-CSFR, Cd114

MMRRC Submission

042435-MU

Accession Numbers

Essential gene?

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

Stock #

R4817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125918343-125938233 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 125931449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 477 (Y477*)

Ref Sequence

ENSEMBL: ENSMUSP00000101768 (fasta)

Gene Model

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

AlphaFold

P40223

Predicted Effect

probably null
Transcript: ENSMUST00000030673
AA Change: Y477*

SMART Domains

Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: Y477*

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 null
Transcript: ENSMUST00000106162
AA Change: Y477*

SMART Domains

Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: Y477*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,033,963 (GRCm39)	D44E	probably damaging	Het
Acp5	T	C	9: 22,038,379 (GRCm39)	I307M	probably benign	Het
Ahsa1	A	G	12: 87,319,940 (GRCm39)	D245G	possibly damaging	Het
Ankrd40	A	G	11: 94,230,459 (GRCm39)	K316E	probably benign	Het
Apol9b	G	A	15: 77,620,088 (GRCm39)	E295K	possibly damaging	Het
Aqp4	C	A	18: 15,532,815 (GRCm39)	G93C	probably damaging	Het
Arhgap21	A	G	2: 20,854,967 (GRCm39)	V1465A	probably benign	Het
Arhgap5	C	T	12: 52,565,992 (GRCm39)	P988S	possibly damaging	Het
Asxl3	A	C	18: 22,658,511 (GRCm39)	K2174Q	probably damaging	Het
Brf1	A	T	12: 112,935,921 (GRCm39)	I250N	probably damaging	Het
Calm1	A	G	12: 100,169,832 (GRCm39)		probably null	Het
Ccdc33	C	T	9: 57,974,818 (GRCm39)	V352M	probably damaging	Het
Ccdc88a	G	T	11: 29,410,907 (GRCm39)	K464N	probably benign	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdc25b	T	A	2: 131,035,223 (GRCm39)	I327N	probably damaging	Het
Cenpf	G	A	1: 189,414,566 (GRCm39)	H184Y	possibly damaging	Het
Cimap1d	G	A	10: 79,475,851 (GRCm39)	P238S	probably damaging	Het
Col6a5	G	A	9: 105,811,497 (GRCm39)	T674I	unknown	Het
Creg2	A	T	1: 39,662,358 (GRCm39)	M258K	probably damaging	Het
Cyp3a44	T	A	5: 145,740,565 (GRCm39)	Y25F	possibly damaging	Het
Degs2	T	A	12: 108,655,325 (GRCm39)	R283*	probably null	Het
Dido1	T	C	2: 180,303,209 (GRCm39)	N1565S	probably benign	Het
Dnah6	A	T	6: 72,999,407 (GRCm39)	M4008K	probably benign	Het
Dnmbp	C	A	19: 43,838,411 (GRCm39)	G1138V	probably benign	Het
Drosha	A	C	15: 12,914,133 (GRCm39)	H1136P	probably damaging	Het
Duox2	T	G	2: 122,126,996 (GRCm39)	N173T	probably damaging	Het
Dync1li1	T	G	9: 114,534,162 (GRCm39)	I87M	probably benign	Het
E2f8	A	C	7: 48,517,494 (GRCm39)	S770A	probably benign	Het
Efemp1	A	G	11: 28,876,241 (GRCm39)	T469A	probably damaging	Het
Eif3f	A	T	7: 108,536,982 (GRCm39)	T136S	probably damaging	Het
Enpp5	T	C	17: 44,391,871 (GRCm39)	*46R	probably null	Het
Epb41l4b	A	G	4: 57,103,428 (GRCm39)	V136A	probably damaging	Het
Fam186a	A	C	15: 99,831,419 (GRCm39)		probably benign	Het
Flt4	A	G	11: 49,516,242 (GRCm39)	Y115C	probably damaging	Het
Gal	T	A	19: 3,461,126 (GRCm39)		probably null	Het
Galnt3	C	T	2: 65,923,883 (GRCm39)	V462I	possibly damaging	Het
Gas2l1	A	G	11: 5,011,429 (GRCm39)	S467P	possibly damaging	Het
Gbx1	A	G	5: 24,731,204 (GRCm39)	L204P	probably damaging	Het
Gle1	T	A	2: 29,826,223 (GRCm39)	S101T	probably benign	Het
Gltpd2	A	C	11: 70,410,303 (GRCm39)	Q87P	probably damaging	Het
Gm12789	T	A	4: 101,846,079 (GRCm39)	D113E	probably damaging	Het
Grin3b	G	A	10: 79,812,732 (GRCm39)	G936R	probably benign	Het
Gtf3c2	C	T	5: 31,331,434 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,200,437 (GRCm39)		noncoding transcript	Het
Klhl28	T	C	12: 65,004,043 (GRCm39)	T157A	probably benign	Het
Kmt2a	A	G	9: 44,732,763 (GRCm39)		probably benign	Het
Lamp1	A	G	8: 13,222,541 (GRCm39)	T242A	probably benign	Het
Lhfpl5	T	G	17: 28,795,300 (GRCm39)	I109S	possibly damaging	Het
Lhfpl5	T	A	17: 28,801,962 (GRCm39)	*220R	probably null	Het
Map4k2	C	T	19: 6,394,459 (GRCm39)	T313I	probably damaging	Het
Matn2	A	G	15: 34,423,945 (GRCm39)	D601G	probably damaging	Het
Mcur1	C	T	13: 43,705,147 (GRCm39)	V170M	possibly damaging	Het
Mphosph10	T	C	7: 64,041,969 (GRCm39)		probably benign	Het
Nat8l	G	A	5: 34,158,387 (GRCm39)	A266T	probably benign	Het
Nckap5	G	T	1: 125,954,952 (GRCm39)	D469E	possibly damaging	Het
Nckap5l	G	T	15: 99,321,067 (GRCm39)	P1238T	probably damaging	Het
Ngf	A	G	3: 102,417,156 (GRCm39)		probably benign	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Or2q1	A	G	6: 42,794,896 (GRCm39)	I164V	possibly damaging	Het
Or2v2	A	T	11: 49,004,448 (GRCm39)	V35D	probably damaging	Het
Pclo	A	T	5: 14,725,045 (GRCm39)	Y1301F	unknown	Het
Pclo	A	G	5: 14,763,139 (GRCm39)	T3871A	unknown	Het
Peli3	T	C	19: 4,982,594 (GRCm39)	E357G	probably damaging	Het
Pkd1	T	A	17: 24,784,348 (GRCm39)		probably null	Het
Pla2g2c	T	G	4: 138,461,645 (GRCm39)	F38C	probably damaging	Het
Plekha2	T	A	8: 25,549,960 (GRCm39)	T126S	possibly damaging	Het
Polr3f	T	A	2: 144,376,001 (GRCm39)	*142K	probably null	Het
Ppcs	C	T	4: 119,276,343 (GRCm39)	V81M	probably benign	Het
Prl7a1	A	G	13: 27,819,747 (GRCm39)	I169T	probably damaging	Het
Rbm19	C	A	5: 120,271,799 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,721,631 (GRCm39)	Y215F	probably benign	Het
Rragd	T	G	4: 32,995,072 (GRCm39)	S62R	probably benign	Het
Rtel1	T	C	2: 180,997,728 (GRCm39)	S1114P	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setbp1	A	G	18: 78,902,015 (GRCm39)	S551P	probably damaging	Het
Setd6	T	C	8: 96,443,683 (GRCm39)		probably benign	Het
Slmap	A	C	14: 26,183,507 (GRCm39)	M292R	probably damaging	Het
Srrm4	T	C	5: 116,615,193 (GRCm39)	D97G	unknown	Het
Stk-ps2	G	A	1: 46,068,125 (GRCm39)		noncoding transcript	Het
Syce1	A	T	7: 140,358,336 (GRCm39)	M204K	probably benign	Het
Syk	A	G	13: 52,765,242 (GRCm39)	K123R	probably benign	Het
Tbc1d14	A	T	5: 36,729,175 (GRCm39)	S64T	probably damaging	Het
Tmt1a3	A	T	15: 100,233,214 (GRCm39)	D135V	probably damaging	Het
Traf3ip3	T	C	1: 192,867,137 (GRCm39)	K295E	probably damaging	Het
Trp53bp2	T	C	1: 182,269,370 (GRCm39)		probably null	Het
Tsc2	T	A	17: 24,815,716 (GRCm39)		probably null	Het
Tspyl4	T	A	10: 34,173,734 (GRCm39)	C75*	probably null	Het
Uqcc2	T	C	17: 27,344,133 (GRCm39)	I52V	probably benign	Het
Vcp	T	A	4: 42,983,486 (GRCm39)	T525S	probably damaging	Het
Vmn2r18	A	T	5: 151,508,897 (GRCm39)		probably null	Het
Vmp1	A	G	11: 86,492,879 (GRCm39)	V310A	probably benign	Het
Vps13d	T	A	4: 144,795,735 (GRCm39)	R3671S	probably damaging	Het
Wdr3	T	C	3: 100,053,861 (GRCm39)	T544A	possibly damaging	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp541	T	A	7: 15,824,307 (GRCm39)	F1010I	probably damaging	Het
Zfp64	T	C	2: 168,768,032 (GRCm39)	T527A	probably benign	Het
Zyx	G	T	6: 42,333,421 (GRCm39)	R449M	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
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
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
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'- GCTCCCTGGTATGACTGTTG -3'
(R):5'- CCCCAGGTAAGGTTTCAGAAAAG -3'

Sequencing Primer
(F):5'- GGTATTGACATACCCTGGATCACAG -3'
(R):5'- CAGGTAAGGTTTCAGAAAAGGCTGG -3'

Posted On

2016-02-04