Mutagenetix > Incidental Mutations

Incidental Mutation 'R6347:Csf2rb'

520074

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

Accession Numbers

Genbank: NM_007780; MGI: 1339759

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78325752-78353847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78345552 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 440 (D440N)

Ref Sequence

ENSEMBL: ENSMUSP00000155092 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096355
AA Change: D440N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: D440N

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

noncoding transcript
Transcript: ENSMUST00000183523

Predicted Effect

probably damaging
Transcript: ENSMUST00000229678
AA Change: D440N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230264
AA Change: D440N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.3%

Validation Efficiency

95% (41/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	G	T	2: 173,527,915	R74L	possibly damaging	Het
Atat1	A	G	17: 35,910,029	F3L	probably damaging	Het
Atf7	T	A	15: 102,546,479	M285L	possibly damaging	Het
Bcl7b	T	C	5: 135,180,533	S95P	possibly damaging	Het
Cald1	A	C	6: 34,765,046	K453Q	probably damaging	Het
Cog4	A	T	8: 110,880,643	I580F	probably damaging	Het
Cpq	T	A	15: 33,290,186		probably null	Het
Dst	A	G	1: 34,179,684		probably null	Het
Eif2b3	T	C	4: 117,044,566	V142A	probably benign	Het
Fat3	A	T	9: 15,998,372	N2111K	probably damaging	Het
Fbxo31	C	A	8: 121,578,459	E99D	possibly damaging	Het
Fgfr2	T	C	7: 130,261,757	E34G	probably damaging	Het
Flvcr2	T	C	12: 85,747,420	V190A	possibly damaging	Het
Herc2	T	C	7: 56,194,403		probably null	Het
Igkv3-2	A	C	6: 70,699,033	M109L	probably benign	Het
Il1f5	G	A	2: 24,279,714	A29T	probably damaging	Het
Kif13b	C	T	14: 64,767,619	T1120I	probably benign	Het
Kmt2c	A	G	5: 25,310,835	I2670T	possibly damaging	Het
Lcp2	A	G	11: 34,082,501	M360V	probably benign	Het
Ldlrad4	A	G	18: 68,235,780	S103G	probably benign	Het
Loxl4	T	C	19: 42,608,270	K88E	probably damaging	Het
Ltbp2	C	A	12: 84,853,912	R192L	probably damaging	Het
Mast2	C	A	4: 116,317,732	G475V	probably damaging	Het
Meis1	A	C	11: 18,905,631		probably null	Het
Mroh3	T	C	1: 136,200,937		probably null	Het
Myo5b	C	T	18: 74,770,385	A1824V	probably benign	Het
Nectin3	C	T	16: 46,458,124	V303M	probably benign	Het
Olfr472	T	C	7: 107,902,950	S78P	possibly damaging	Het
Peak1	T	C	9: 56,258,211	N811S	probably benign	Het
Pik3ca	C	T	3: 32,462,821	A1066V	probably benign	Het
Rnf103	A	G	6: 71,505,824	T153A	possibly damaging	Het
Sacs	G	A	14: 61,211,160	V3552I	probably damaging	Het
Sgca	A	T	11: 94,972,028	N109K	probably damaging	Het
Speg	T	A	1: 75,426,875	M2621K	probably benign	Het
Stfa2l1	T	C	16: 36,156,901	I22T	probably damaging	Het
Tbpl2	G	A	2: 24,094,703	P144L	probably benign	Het
Tmem219	T	C	7: 126,896,826	N119S	possibly damaging	Het
Ush2a	A	G	1: 188,910,887	T4149A	probably benign	Het
Wdr46	C	A	17: 33,941,852	P197T	probably damaging	Het
Wee2	C	T	6: 40,455,105	R203C	probably 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
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
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'- AGCACATCTGCCTCTACAGG -3'
(R):5'- AGAAACCCAGCTTGGCCTATC -3'

Sequencing Primer
(F):5'- TCTGCCTCTACAGGACAGC -3'
(R):5'- CCTATCATGGCTTCCACAAAGG -3'

Posted On

2018-06-06