Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Csf2rb'

172060

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

039583-MU

Accession Numbers

Genbank: NM_007780; MGI: 1339759

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78325752-78353847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78340755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 212 (A212S)

Ref Sequence

ENSEMBL: ENSMUSP00000155092 (fasta)

Gene Model

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

AlphaFold

P26955

Predicted Effect

probably benign
Transcript: ENSMUST00000096355
AA Change: A212S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: A212S

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

probably benign
Transcript: ENSMUST00000229678
AA Change: A212S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229920

Predicted Effect

probably benign
Transcript: ENSMUST00000230264
AA Change: A212S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000231888

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	C	X: 18,420,462	L285V	possibly damaging	Het
4931406B18Rik	A	G	7: 43,498,119	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,311,359		probably benign	Het
4933425L06Rik	A	T	13: 105,109,621	H230L	probably benign	Het
A730018C14Rik	A	G	12: 112,415,490		noncoding transcript	Het
Aacs	A	T	5: 125,516,330	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,083,631	V227I	probably benign	Het
Abcd3	T	C	3: 121,784,473	Q168R	probably benign	Het
Adamts4	A	G	1: 171,252,742	Q288R	probably benign	Het
Atad2	G	A	15: 58,103,364	A611V	probably damaging	Het
Aup1	T	C	6: 83,055,206	V118A	possibly damaging	Het
Bend7	T	A	2: 4,763,311		probably benign	Het
Brd4	A	G	17: 32,198,672		probably benign	Het
C4b	C	A	17: 34,738,967	R580L	probably benign	Het
Cct8	G	T	16: 87,491,454		probably benign	Het
Cilp	T	C	9: 65,275,845	Y344H	probably benign	Het
Clic6	A	T	16: 92,492,073		probably benign	Het
Colgalt2	T	C	1: 152,484,952	S247P	probably damaging	Het
Csmd3	A	C	15: 47,611,898		probably null	Het
Cyp26c1	A	G	19: 37,690,945	D366G	probably benign	Het
Dhx33	A	G	11: 70,999,528	S222P	probably damaging	Het
Dhx40	T	A	11: 86,806,553	I63F	possibly damaging	Het
Dlgap2	T	A	8: 14,829,861		probably null	Het
Dnah7b	T	A	1: 46,066,797	D20E	unknown	Het
Dnase2b	C	A	3: 146,584,557	A220S	probably benign	Het
Dock10	T	C	1: 80,592,635	E362G	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Epha10	C	A	4: 124,885,596	N78K	probably damaging	Het
Epha3	A	G	16: 63,773,053	V224A	probably damaging	Het
Fam126a	A	T	5: 23,965,141	D403E	probably benign	Het
Fam208b	A	T	13: 3,590,413	H241Q	possibly damaging	Het
Fcgr4	C	A	1: 171,019,954	D40E	probably damaging	Het
Fer1l4	T	C	2: 156,045,633	M548V	probably benign	Het
Flii	C	T	11: 60,719,692		probably null	Het
Flnc	A	T	6: 29,444,080	Y631F	probably benign	Het
Gm13101	T	C	4: 143,966,062	D123G	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm4788	A	T	1: 139,736,870	C484S	probably damaging	Het
Gm6871	A	C	7: 41,546,090		probably null	Het
Gtf2ird1	A	T	5: 134,358,918	S1028T	possibly damaging	Het
Hydin	A	G	8: 110,574,854	H3739R	probably benign	Het
Iqcg	A	T	16: 33,045,525	N149K	probably benign	Het
Iqgap3	A	G	3: 88,098,893	D537G	probably benign	Het
Itih2	T	G	2: 10,105,214	D576A	probably benign	Het
Kcmf1	T	C	6: 72,848,229	T243A	probably benign	Het
Kif1a	A	G	1: 93,074,948		probably benign	Het
Klf10	C	T	15: 38,296,786	G337S	probably damaging	Het
Krt31	T	C	11: 100,047,873	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,749,751	E556G	probably benign	Het
Mael	A	T	1: 166,202,290	S354T	probably benign	Het
Mast3	T	C	8: 70,786,172	D496G	probably damaging	Het
Med12l	A	G	3: 59,265,240	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,955,821		probably null	Het
Moap1	A	T	12: 102,743,245	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,946,819	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myo7b	T	C	18: 31,994,909	I577V	probably benign	Het
Myo9b	T	A	8: 71,290,976	L227Q	probably damaging	Het
Myom2	T	C	8: 15,104,059		probably benign	Het
Naip6	C	A	13: 100,316,475	R26L	probably benign	Het
Nbea	T	C	3: 56,058,827	T405A	probably damaging	Het
Nrp2	T	A	1: 62,762,904	I502N	probably damaging	Het
Nufip2	G	A	11: 77,691,907	E216K	possibly damaging	Het
Oaf	A	G	9: 43,222,633	Y264H	probably damaging	Het
Olfr1023	T	C	2: 85,887,271	L157P	probably damaging	Het
Olfr643	A	G	7: 104,059,224	V126A	probably damaging	Het
Olfr815	A	T	10: 129,902,424	C95*	probably null	Het
Pax1	T	C	2: 147,368,401	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,038,235		probably null	Het
Plxna3	G	A	X: 74,340,166		probably null	Het
Pnpla3	T	C	15: 84,181,046	V347A	probably benign	Het
Ppl	T	A	16: 5,102,597	K350*	probably null	Het
Prb1	C	A	6: 132,209,460		probably null	Het
Prb1	T	A	6: 132,209,461		probably null	Het
Ptpn11	G	A	5: 121,137,511	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,748	H946N	possibly damaging	Het
Rad51b	A	G	12: 79,302,543	E51G	possibly damaging	Het
Rin2	T	C	2: 145,858,446	V181A	probably damaging	Het
Rnf157	T	A	11: 116,354,362		probably null	Het
Rnf207	A	G	4: 152,313,871		probably benign	Het
Ror1	A	T	4: 100,441,986	K852M	probably damaging	Het
Sbp	T	A	17: 23,945,069	I102K	probably benign	Het
Scaf8	T	C	17: 3,145,154	I33T	probably damaging	Het
Scn5a	C	T	9: 119,486,633	V1670I	probably damaging	Het
Serhl	C	T	15: 83,105,676	T42M	probably damaging	Het
Sin3a	A	G	9: 57,103,997		probably benign	Het
Slc12a2	A	G	18: 57,879,302	S166G	probably benign	Het
Slc15a4	G	A	5: 127,603,768	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,154,686	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,265,567	T118M	possibly damaging	Het
Spns2	A	T	11: 72,456,367	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,651	S112T	probably damaging	Het
Stard10	A	T	7: 101,344,026	D190V	probably damaging	Het
Stil	A	T	4: 115,023,852	K531M	probably damaging	Het
Strc	T	C	2: 121,372,738		probably null	Het
Svil	T	A	18: 5,046,817	I21N	possibly damaging	Het
Syt11	T	C	3: 88,748,803	M14V	probably benign	Het
Tg	A	T	15: 66,705,232	Q1468L	probably benign	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,338,799	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 105,827,751		probably benign	Het
Tyr	C	A	7: 87,492,706	L138F	probably damaging	Het
Ubash3b	A	G	9: 41,016,605	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,915,449	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,474,798	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,556,295	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,777,023	I78L	probably benign	Het
Wdr90	T	C	17: 25,849,310	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,105,213	C261S	probably benign	Het
Zfp809	T	A	9: 22,235,099	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,289,066	Q99L	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
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
R9510:Csf2rb	UTSW	15	78345560	critical splice donor site	probably null
R9755:Csf2rb	UTSW	15	78348624	nonsense	probably null
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'- AGCTCCTCTGAGGATCGTTTCCTG -3'
(R):5'- ACATGTTTGCTGCCAGAGAGCC -3'

Sequencing Primer
(F):5'- TTATAAGCGGCTTCAGGACTC -3'
(R):5'- GGCTCCAATGTCGAGGTAG -3'

Posted On

2014-04-13