Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01724:Csf2rb'

105204

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Genbank: NM_007780; MGI: 1339759

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01724

Quality Score

Status

Chromosome

Chromosomal Location

78325752-78353847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78336414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 52 (A52V)

Ref Sequence

ENSEMBL: ENSMUSP00000155092 (fasta)

Gene Model

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

AlphaFold

P26955

Predicted Effect

probably damaging
Transcript: ENSMUST00000096355
AA Change: A52V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: A52V

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 damaging
Transcript: ENSMUST00000229678
AA Change: A52V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229920

Predicted Effect

probably damaging
Transcript: ENSMUST00000230264
AA Change: A52V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231769

Predicted Effect

probably benign
Transcript: ENSMUST00000231888

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	C	T	7: 29,247,896		probably null	Het
Abcc9	A	G	6: 142,664,533	V635A	probably benign	Het
Adgre1	T	A	17: 57,444,064	Y579*	probably null	Het
Adgrg3	T	C	8: 95,039,425	F295L	probably benign	Het
Arhgap42	A	T	9: 8,998,253		probably benign	Het
Brd2	T	A	17: 34,117,002	Q79L	probably damaging	Het
Brd2	C	A	17: 34,117,001	Q79H	probably damaging	Het
Capn15	A	G	17: 25,962,063	S705P	probably damaging	Het
Cebpz	T	A	17: 78,935,913	D104V	probably benign	Het
Chl1	T	C	6: 103,649,573	I94T	probably damaging	Het
Ddx27	T	C	2: 167,028,389	L459P	probably damaging	Het
Dhtkd1	T	C	2: 5,914,840	T577A	probably benign	Het
Dync2h1	G	A	9: 7,081,077	T2873I	probably benign	Het
Emg1	A	G	6: 124,712,021	F8S	possibly damaging	Het
Fam46a	A	G	9: 85,325,050	C232R	probably damaging	Het
Fermt3	A	G	19: 7,001,775	I553T	probably damaging	Het
Gaa	A	G	11: 119,275,121	D419G	possibly damaging	Het
Hdac10	T	C	15: 89,124,709		probably benign	Het
Hsf1	T	A	15: 76,496,837	V122E	possibly damaging	Het
Lig3	C	A	11: 82,790,622	T480K	possibly damaging	Het
Magi1	T	C	6: 93,792,400		probably null	Het
Mcm2	G	T	6: 88,886,062	H683N	probably damaging	Het
Ncapg2	G	T	12: 116,426,711	A427S	probably damaging	Het
Nkd1	T	C	8: 88,522,295	F23L	probably damaging	Het
Olfr1501	G	A	19: 13,838,861	T104M	probably damaging	Het
Pcdhb5	T	G	18: 37,321,022	S152A	probably benign	Het
Pdx1	A	T	5: 147,274,407	E146V	probably damaging	Het
Qrsl1	T	C	10: 43,874,608	T485A	probably benign	Het
Slc17a4	A	G	13: 23,905,533	Y134H	probably benign	Het
Slc24a4	A	T	12: 102,218,960	M110L	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Uhrf2	T	C	19: 30,075,252	V382A	probably benign	Het
Vac14	T	A	8: 110,618,891	M1K	probably null	Het
Virma	A	G	4: 11,528,672	E1303G	probably damaging	Het
Xirp2	T	C	2: 67,526,067	V3724A	probably benign	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
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
R0133:Csf2rb	UTSW	15	78339004	unclassified	probably benign
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
R8135:Csf2rb	UTSW	15	78348119	missense	possibly damaging	0.95
R8154:Csf2rb	UTSW	15	78340442	critical splice acceptor site	probably null
R8299:Csf2rb	UTSW	15	78346469	missense	possibly damaging	0.88
R8315:Csf2rb	UTSW	15	78347381	missense	possibly damaging	0.83
R8926:Csf2rb	UTSW	15	78340549	missense	probably benign
R8948:Csf2rb	UTSW	15	78348320	missense	probably benign	0.05
R8950:Csf2rb	UTSW	15	78348320	missense	probably benign	0.05
R9265:Csf2rb	UTSW	15	78348546	missense	probably benign	0.08
X0024:Csf2rb	UTSW	15	78336360	missense	probably damaging	1.00
X0028:Csf2rb	UTSW	15	78349002	missense	probably damaging	1.00

Posted On

2014-01-21