Mutagenetix > Incidental Mutations

Incidental Mutation 'R7781:Csf2rb'

599259

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 #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78325752-78353847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78344571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 371 (F371I)

Ref Sequence

ENSEMBL: ENSMUSP00000094082 (fasta)

Gene Model

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

AlphaFold

P26955

Predicted Effect

probably benign
Transcript: ENSMUST00000096355
AA Change: F371I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: F371I

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: ENSMUST00000229678
AA Change: F371I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000230264
AA Change: F371I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	G	A	3: 19,628,542	P23S	unknown	Het
Abcc6	C	T	7: 46,005,606	R487Q	probably damaging	Het
Abl1	A	T	2: 31,790,697	T334S	probably damaging	Het
Adam6b	T	C	12: 113,491,342	F593S	probably damaging	Het
Alx1	A	T	10: 103,009,192	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,625,205	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,645	N202S	probably benign	Het
Ate1	A	T	7: 130,519,427	V12E	probably damaging	Het
Atl2	A	T	17: 79,859,831	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,297,408	M630T	probably benign	Het
Atp5o	A	T	16: 91,926,529	I124N	possibly damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,661,487	E181G	probably damaging	Het
Bnipl	C	A	3: 95,244,175	W272L	probably damaging	Het
Catsperd	A	T	17: 56,664,072	H712L	probably benign	Het
Cilp2	T	C	8: 69,882,347	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,523,614	K351Q	probably damaging	Het
Coq7	A	T	7: 118,525,888	I171N	probably damaging	Het
Cyp3a13	C	T	5: 137,898,874	V393M	possibly damaging	Het
Dennd2a	A	G	6: 39,493,066	V564A	probably damaging	Het
Ear14	T	C	14: 51,204,011	L108P	probably damaging	Het
Egflam	C	A	15: 7,253,746	V277F	probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Faap100	T	C	11: 120,374,263	M596V	probably benign	Het
Fbxw15	T	A	9: 109,557,262	T270S	possibly damaging	Het
Gabpb1	C	T	2: 126,639,200	C342Y	possibly damaging	Het
Gls	A	T	1: 52,212,333	C288*	probably null	Het
Gm14124	A	T	2: 150,267,657	H89L	possibly damaging	Het
Grm8	G	T	6: 27,285,787	D875E	probably benign	Het
Hdac4	C	A	1: 91,975,665	R514L	probably benign	Het
Hps4	T	A	5: 112,370,522	N460K	probably benign	Het
Inpp5d	T	C	1: 87,699,672	F565S	probably damaging	Het
Kcnh5	C	A	12: 74,976,681	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,765	N499S	probably damaging	Het
Klk15	T	C	7: 43,939,556	L244S	probably benign	Het
Lamp3	A	T	16: 19,699,690	S266T	possibly damaging	Het
Lemd3	A	G	10: 120,925,773	F863L	probably damaging	Het
Mga	T	A	2: 119,917,357	V663D	probably damaging	Het
Naa15	A	G	3: 51,471,483		probably null	Het
Ndrg3	C	A	2: 156,928,813	G352*	probably null	Het
Nr2f6	G	T	8: 71,375,951	N233K	possibly damaging	Het
Olfr1252	A	G	2: 89,721,535	F192S	probably benign	Het
Plxnb2	T	A	15: 89,157,022	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rpl23a	G	A	11: 78,182,828	R62W	probably benign	Het
Rubcnl	A	G	14: 75,032,090	R63G	probably damaging	Het
Ryr1	T	C	7: 29,067,630	D2976G	probably damaging	Het
Siglec1	A	G	2: 131,081,338	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 125,491,827	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,234,853		probably null	Het
Slc4a1ap	T	C	5: 31,527,478	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,228,932	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251	E2845A	possibly damaging	Het
Tlr1	T	C	5: 64,926,736	N166S	possibly damaging	Het
Tmem231	C	T	8: 111,918,290		probably null	Het
Tsc2	C	A	17: 24,608,115	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,024,568	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,570,733	S431G	probably benign	Het
Wdr7	A	T	18: 63,777,789	K751*	probably null	Het
Wdr90	C	T	17: 25,846,326	R1652Q	probably damaging	Het
Zcchc2	T	C	1: 106,004,165	Y366H	probably damaging	Het
Zfp607a	C	T	7: 27,865,575	R56C	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGACCAGCTTGGAGAATTC -3'
(R):5'- CACCTCTCTGAGCCTGAATC -3'

Sequencing Primer
(F):5'- GACCAGCTTGGAGAATTCATTAGAC -3'
(R):5'- GCTCATCAAGAAATTGGACTGTCTCC -3'

Posted On

2019-11-26