Mutagenetix > Incidental Mutations

Incidental Mutation 'R1619:Csf2rb'

174569

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

039656-MU

Accession Numbers

Genbank: NM_007780; MGI: 1339759

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78325752-78353847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78335211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000155050 (fasta)

Gene Model

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

AlphaFold

P26955

Predicted Effect

probably benign
Transcript: ENSMUST00000096355
AA Change: D2G

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: D2G

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 damaging
Transcript: ENSMUST00000229034
AA Change: D2G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229657

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229678
AA Change: D2G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229920

Predicted Effect

probably benign
Transcript: ENSMUST00000230264
AA Change: D2G

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231769

Predicted Effect

probably benign
Transcript: ENSMUST00000231888

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 80,009,055	H1537L	probably damaging	Het
Actg2	T	A	6: 83,523,187	N116I	probably damaging	Het
Actn1	G	A	12: 80,173,022	H692Y	probably damaging	Het
Adamts6	C	T	13: 104,312,777	P36S	probably benign	Het
Agr3	G	A	12: 35,947,859		probably null	Het
Ank3	T	C	10: 69,879,975	V500A	probably damaging	Het
BC051019	T	A	7: 109,718,062	D141V	probably damaging	Het
Bco1	T	C	8: 117,108,715	F135S	probably damaging	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccdc42	A	G	11: 68,594,289	K210E	probably damaging	Het
Cckar	A	T	5: 53,700,067	W263R	probably damaging	Het
Cela2a	A	G	4: 141,825,941		probably null	Het
Cep97	A	T	16: 55,927,796	N90K	probably damaging	Het
Ces2g	A	T	8: 104,967,352	Q440L	probably damaging	Het
Chchd6	G	T	6: 89,419,754	T225K	possibly damaging	Het
Chd1l	C	T	3: 97,582,731	E503K	probably benign	Het
Chrna5	A	G	9: 55,004,365	T46A	probably benign	Het
Col16a1	G	A	4: 130,098,940	G1531S	probably damaging	Het
Col19a1	A	T	1: 24,534,091	V200E	unknown	Het
Csmd3	G	A	15: 47,949,950	S1062L	probably damaging	Het
Cul5	G	T	9: 53,658,593	Q113K	probably benign	Het
Dmwd	TAGCCTGGGAA	TAGCCTGGGAAGCCTGGGAA	7: 19,081,034		probably benign	Het
Dse	T	C	10: 34,153,234	D620G	probably damaging	Het
Dsg1c	A	G	18: 20,264,842	N33S	probably benign	Het
Epc2	G	A	2: 49,549,978	V803I	probably damaging	Het
Erap1	T	A	13: 74,671,381	H171Q	probably damaging	Het
Esrrb	T	C	12: 86,514,500	V336A	possibly damaging	Het
Fech	A	T	18: 64,462,118	W300R	probably damaging	Het
Fgd4	T	C	16: 16,424,056	I635V	possibly damaging	Het
Galc	A	T	12: 98,234,304	N282K	probably benign	Het
Gpat2	A	G	2: 127,428,717	Y95C	probably benign	Het
Grm2	T	A	9: 106,647,471	I682F	probably damaging	Het
Hdac10	G	T	15: 89,126,675	A241D	probably damaging	Het
Helz	T	A	11: 107,636,279	C182*	probably null	Het
Ift140	A	G	17: 25,088,865	Y978C	probably damaging	Het
Intu	T	A	3: 40,697,631	C839*	probably null	Het
Jmjd1c	T	C	10: 67,219,875	V358A	probably benign	Het
Kif26b	A	G	1: 178,916,478	S1380G	probably benign	Het
Lrp1b	A	G	2: 40,697,589	S116P	unknown	Het
Lrrc2	T	A	9: 110,960,973	S99R	probably benign	Het
Mrpl48	G	A	7: 100,546,275		probably benign	Het
Mup9	A	G	4: 60,421,879		probably benign	Het
Nap1l1	G	A	10: 111,493,379	V285I	possibly damaging	Het
Nepro	A	G	16: 44,727,028	D36G	probably benign	Het
Nkain4	A	G	2: 180,936,001	F187L	probably damaging	Het
Nobox	A	T	6: 43,307,467	C82S	possibly damaging	Het
Ntn4	C	A	10: 93,644,734	Q70K	probably damaging	Het
Olfr1281	A	G	2: 111,328,961	I181V	probably benign	Het
Olfr1484	T	A	19: 13,585,614	F103L	probably benign	Het
Olfr385	A	T	11: 73,589,292	W149R	probably damaging	Het
Olfr644	T	C	7: 104,068,531	R167G	probably damaging	Het
Olfr71	A	G	4: 43,706,292	I92T	probably damaging	Het
Olfr823	A	G	10: 130,112,679	I37T	possibly damaging	Het
Pappa	A	G	4: 65,176,229	E497G	probably damaging	Het
Pard3	C	A	8: 127,380,502	T569K	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pcdh10	A	G	3: 45,380,312	N354D	possibly damaging	Het
Pdgfc	T	C	3: 81,174,887	V129A	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Phf20l1	A	T	15: 66,615,259	H407L	possibly damaging	Het
Phip	A	T	9: 82,871,449	D1747E	probably benign	Het
Pkd1l1	A	G	11: 8,950,413	S43P	probably damaging	Het
Plekhg2	T	C	7: 28,368,421	E202G	probably damaging	Het
Rapsn	A	G	2: 91,043,159	D270G	possibly damaging	Het
Rims2	A	C	15: 39,506,986	S939R	probably damaging	Het
Ripor3	T	C	2: 167,980,845	D932G	probably damaging	Het
Rtp2	A	T	16: 23,930,671	W30R	probably damaging	Het
Scgb2b27	A	T	7: 34,012,132	D97E	probably benign	Het
Slc25a46	T	C	18: 31,583,489	N320S	probably benign	Het
Slc9b1	A	G	3: 135,355,004		probably null	Het
Socs4	T	A	14: 47,290,283	M225K	possibly damaging	Het
Spata31d1a	A	T	13: 59,702,433	L627*	probably null	Het
Srcin1	A	G	11: 97,525,481	L975P	probably damaging	Het
Stard3	T	A	11: 98,376,609		probably null	Het
Susd2	G	T	10: 75,638,044	S572R	possibly damaging	Het
Tll1	C	A	8: 64,056,273	A568S	probably benign	Het
Tmem132a	C	G	19: 10,861,698	G460A	probably damaging	Het
Trim62	A	G	4: 128,909,488	K444E	probably damaging	Het
Trpm3	A	G	19: 22,711,907	T67A	probably damaging	Het
Ttc6	T	C	12: 57,737,668	M1841T	possibly damaging	Het
Ulk2	A	T	11: 61,781,746	V922D	probably damaging	Het
Vmn2r38	C	A	7: 9,075,533	V617L	probably damaging	Het
Xkr6	G	A	14: 63,819,317	V226M	probably benign	Het
Zfp940	G	A	7: 29,845,537	A315V	possibly damaging	Het
Zfr	C	A	15: 12,150,387	T480K	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGGTCACTTGGCATCGCAG -3'
(R):5'- TATGGCTGGAGAGGGACACCATTG -3'

Sequencing Primer
(F):5'- GGACAGCTCTCAGCCTTAC -3'
(R):5'- ACACCATTGAGCTGGATGC -3'

Posted On

2014-04-24