Mutagenetix > Incidental Mutations

Incidental Mutation 'R0133:Csf2rb'

21784

Institutional Source

Beutler Lab

Gene Symbol

Csf2rb

Ensembl Gene

ENSMUSG00000071713

Gene Name

colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)

Synonyms

Csf2rb1, AIC2B, Il5rb, Bc, Il3rb1, beta c, Il3r, common beta chain, CDw131

MMRRC Submission

038418-MU

Accession Numbers

Genbank: NM_007780; MGI: 1339759

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78325752-78353847 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 78339004 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096355] [ENSMUST00000229034] [ENSMUST00000229678] [ENSMUST00000230264] [ENSMUST00000231888]

Predicted Effect

probably benign
Transcript: ENSMUST00000096355

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SCOP:d1gh7a1	29	130	6e-58	SMART
FN3	136	224	4.44e0	SMART
Blast:FN3	245	338	3e-24	BLAST
SCOP:d1gh7a3	245	338	2e-45	SMART
FN3	343	426	2.41e0	SMART
transmembrane domain	446	468	N/A	INTRINSIC
low complexity region	716	743	N/A	INTRINSIC
low complexity region	824	845	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229657

Predicted Effect

probably benign
Transcript: ENSMUST00000229678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229920

Predicted Effect

probably benign
Transcript: ENSMUST00000230264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231769

Predicted Effect

probably benign
Transcript: ENSMUST00000231888

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(3) Targeted, other(4)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 103,105,388	S172P	probably damaging	Het
Akap6	A	T	12: 53,139,471	K1223*	probably null	Het
Akna	G	A	4: 63,379,361	Q819*	probably null	Het
Ankrd2	T	C	19: 42,044,071	V257A	probably benign	Het
Arap1	T	A	7: 101,386,229	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578		probably benign	Het
Blm	T	A	7: 80,502,367	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,273,381	K250R	probably benign	Het
Cdhr3	A	G	12: 33,092,752	L8P	possibly damaging	Het
Ctbs	A	G	3: 146,457,468	I204V	probably benign	Het
Cxcl16	T	A	11: 70,458,770	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,154,072	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,298,942		probably benign	Het
Dnah2	A	T	11: 69,421,009	M4452K	probably damaging	Het
Dok4	T	A	8: 94,865,363	I280F	probably benign	Het
Dsc3	T	C	18: 19,971,582	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,404,878	A617V	probably damaging	Het
Eps8l2	C	T	7: 141,362,207	P721S	unknown	Het
Evx2	T	C	2: 74,659,082	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,606,333	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,489,610		probably benign	Het
Fbxw14	T	C	9: 109,274,579	T22A	probably benign	Het
Fmo5	T	G	3: 97,645,636	V300G	probably damaging	Het
Gadl1	T	C	9: 115,941,343	S75P	probably benign	Het
Galnt2	T	G	8: 124,338,538	I469S	probably benign	Het
Gga3	T	A	11: 115,588,979		probably benign	Het
Gm10647	T	C	9: 66,798,489		probably benign	Het
Gm14180	C	A	11: 99,734,217	C25F	unknown	Het
Grid2	A	T	6: 64,320,132	D493V	probably damaging	Het
Gzmc	T	A	14: 56,232,297	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,830,740	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,400,069	I32T	probably benign	Het
Ikzf1	T	A	11: 11,741,015		probably null	Het
Il27ra	G	A	8: 84,033,942		probably benign	Het
Jmjd1c	C	A	10: 67,240,808	A2137D	probably benign	Het
Kcnc2	T	C	10: 112,458,597	C579R	probably damaging	Het
Kdr	T	C	5: 75,951,838	T862A	probably damaging	Het
Kif17	T	C	4: 138,278,245	S182P	possibly damaging	Het
Klf5	A	T	14: 99,301,882	T164S	probably benign	Het
Ksr2	T	G	5: 117,555,294	V269G	possibly damaging	Het
Mcm5	T	A	8: 75,120,911	D445E	probably damaging	Het
Mlkl	T	C	8: 111,327,948	I186V	probably damaging	Het
Muc4	A	T	16: 32,771,604	S3017C	possibly damaging	Het
Myo15	T	C	11: 60,477,850	F479L	possibly damaging	Het
Myo6	A	G	9: 80,273,975		probably benign	Het
Myom1	T	A	17: 71,047,787	V393E	probably damaging	Het
Nup98	T	A	7: 102,139,652		probably null	Het
Odf2l	A	G	3: 145,148,541	N383S	probably damaging	Het
Olfml3	A	C	3: 103,737,026		probably null	Het
Olfr1057	A	T	2: 86,374,815	V199E	possibly damaging	Het
Olfr1494	T	A	19: 13,749,988	I294N	probably damaging	Het
Olfr1537	A	G	9: 39,238,011	Y141H	probably benign	Het
Olfr829	G	A	9: 18,856,629	M1I	probably null	Het
Plxna4	A	T	6: 32,197,074	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,537,820	H20L	probably damaging	Het
Prdm4	A	G	10: 85,910,221		probably null	Het
Prom2	A	G	2: 127,538,338		probably benign	Het
Rasal3	T	C	17: 32,403,383	M1V	probably null	Het
Rhoj	A	G	12: 75,394,420		probably null	Het
Rnf40	C	T	7: 127,596,860		probably null	Het
Slc15a3	T	C	19: 10,843,250	L77P	probably damaging	Het
Slc26a6	T	C	9: 108,861,323	V586A	possibly damaging	Het
Slc30a10	T	A	1: 185,455,173	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,563,577	M316K	probably benign	Het
Smarcal1	T	C	1: 72,632,851	F844L	probably benign	Het
Snx19	A	G	9: 30,428,616	E350G	possibly damaging	Het
Tecta	T	A	9: 42,367,228	T995S	probably benign	Het
Tmc3	T	G	7: 83,612,473	N586K	probably damaging	Het
Tmem107	T	A	11: 69,072,413		probably benign	Het
Tmem247	A	G	17: 86,918,561	Q51R	probably benign	Het
Tmpo	G	T	10: 91,164,038		probably benign	Het
Ubr5	T	A	15: 37,996,571	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Xirp2	T	A	2: 67,517,124	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,314,739	D545N	probably benign	Het
Zkscan3	G	T	13: 21,394,774	P155T	possibly damaging	Het

Other mutations in Csf2rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Csf2rb	APN	15	78348514	nonsense	probably null
IGL00979:Csf2rb	APN	15	78348104	missense	probably damaging	1.00
IGL01613:Csf2rb	APN	15	78335302	intron	probably benign
IGL01724:Csf2rb	APN	15	78336414	missense	probably damaging	1.00
IGL01942:Csf2rb	APN	15	78340492	missense	probably benign
IGL02479:Csf2rb	APN	15	78341724	nonsense	probably null
3-1:Csf2rb	UTSW	15	78344603	missense	probably damaging	1.00
IGL02802:Csf2rb	UTSW	15	78338903	missense	probably benign	0.00
R0179:Csf2rb	UTSW	15	78336372	missense	possibly damaging	0.52
R0487:Csf2rb	UTSW	15	78348331	missense	probably benign	0.00
R1544:Csf2rb	UTSW	15	78340755	missense	probably benign	0.02
R1619:Csf2rb	UTSW	15	78335211	missense	probably damaging	0.99
R1690:Csf2rb	UTSW	15	78348644	missense	probably benign	0.11
R1831:Csf2rb	UTSW	15	78348253	missense	probably benign	0.03
R3970:Csf2rb	UTSW	15	78341467	missense	probably benign
R4922:Csf2rb	UTSW	15	78346467	missense	probably benign	0.02
R5151:Csf2rb	UTSW	15	78340581	missense	probably damaging	1.00
R5202:Csf2rb	UTSW	15	78349057	missense	possibly damaging	0.51
R5398:Csf2rb	UTSW	15	78348620	missense	probably benign
R5496:Csf2rb	UTSW	15	78340561	missense	probably damaging	1.00
R5786:Csf2rb	UTSW	15	78348955	missense	probably damaging	1.00
R6166:Csf2rb	UTSW	15	78344566	missense	probably damaging	1.00
R6347:Csf2rb	UTSW	15	78345552	missense	probably damaging	0.99
R6350:Csf2rb	UTSW	15	78345552	missense	probably damaging	0.99
R6899:Csf2rb	UTSW	15	78340702	missense	probably benign	0.01
R6984:Csf2rb	UTSW	15	78345519	missense	probably damaging	1.00
R7484:Csf2rb	UTSW	15	78338899	missense	possibly damaging	0.53
R7671:Csf2rb	UTSW	15	78338930	missense	probably damaging	1.00
R7751:Csf2rb	UTSW	15	78341639	missense	probably damaging	1.00
R7781:Csf2rb	UTSW	15	78344571	missense	probably benign	0.00
R7861:Csf2rb	UTSW	15	78349157	missense	probably damaging	1.00
R7944:Csf2rb	UTSW	15	78349157	missense	probably damaging	1.00
RF007:Csf2rb	UTSW	15	78341383	missense	probably benign	0.35
X0024:Csf2rb	UTSW	15	78336360	missense	probably damaging	1.00
X0028:Csf2rb	UTSW	15	78349002	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAAACAGCCAGTGTCCTGTGAG -3'
(R):5'- TGGAAAGAGCCTGACAATGTGACC -3'

Sequencing Primer
(F):5'- TGCCCAGAAGATGTGTCATC -3'
(R):5'- GAGTTCTGTCACCTGGAAAGTCC -3'

Posted On

2013-04-12