Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Csf2rb'

207365

Institutional Source

Beutler Lab

Gene Symbol

Csf2rb

Ensembl Gene

ENSMUSG00000071713

Gene Name

colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)

Synonyms

Il5rb, Il3r, common beta chain, Il3rb1, CDw131, beta c, AIC2B, Bc, Csf2rb1

MMRRC Submission

039858-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78210000-78235201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78232453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 587 (P587S)

Ref Sequence

ENSEMBL: ENSMUSP00000154836 (fasta)

Gene Model

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

AlphaFold

P26955

Predicted Effect

probably benign
Transcript: ENSMUST00000096355
AA Change: P587S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: P587S

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 benign
Transcript: ENSMUST00000229678

Predicted Effect

probably benign
Transcript: ENSMUST00000230264
AA Change: P587S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	Het

Other mutations in Csf2rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Csf2rb	APN	15	78,232,714 (GRCm39)	nonsense	probably null
IGL00979:Csf2rb	APN	15	78,232,304 (GRCm39)	missense	probably damaging	1.00
IGL01613:Csf2rb	APN	15	78,219,502 (GRCm39)	intron	probably benign
IGL01724:Csf2rb	APN	15	78,220,614 (GRCm39)	missense	probably damaging	1.00
IGL01942:Csf2rb	APN	15	78,224,692 (GRCm39)	missense	probably benign
IGL02479:Csf2rb	APN	15	78,225,924 (GRCm39)	nonsense	probably null
3-1:Csf2rb	UTSW	15	78,228,803 (GRCm39)	missense	probably damaging	1.00
IGL02802:Csf2rb	UTSW	15	78,223,103 (GRCm39)	missense	probably benign	0.00
R0133:Csf2rb	UTSW	15	78,223,204 (GRCm39)	unclassified	probably benign
R0179:Csf2rb	UTSW	15	78,220,572 (GRCm39)	missense	possibly damaging	0.52
R0487:Csf2rb	UTSW	15	78,232,531 (GRCm39)	missense	probably benign	0.00
R1544:Csf2rb	UTSW	15	78,224,955 (GRCm39)	missense	probably benign	0.02
R1619:Csf2rb	UTSW	15	78,219,411 (GRCm39)	missense	probably damaging	0.99
R1690:Csf2rb	UTSW	15	78,232,844 (GRCm39)	missense	probably benign	0.11
R3970:Csf2rb	UTSW	15	78,225,667 (GRCm39)	missense	probably benign
R4922:Csf2rb	UTSW	15	78,230,667 (GRCm39)	missense	probably benign	0.02
R5151:Csf2rb	UTSW	15	78,224,781 (GRCm39)	missense	probably damaging	1.00
R5202:Csf2rb	UTSW	15	78,233,257 (GRCm39)	missense	possibly damaging	0.51
R5398:Csf2rb	UTSW	15	78,232,820 (GRCm39)	missense	probably benign
R5496:Csf2rb	UTSW	15	78,224,761 (GRCm39)	missense	probably damaging	1.00
R5786:Csf2rb	UTSW	15	78,233,155 (GRCm39)	missense	probably damaging	1.00
R6166:Csf2rb	UTSW	15	78,228,766 (GRCm39)	missense	probably damaging	1.00
R6347:Csf2rb	UTSW	15	78,229,752 (GRCm39)	missense	probably damaging	0.99
R6350:Csf2rb	UTSW	15	78,229,752 (GRCm39)	missense	probably damaging	0.99
R6899:Csf2rb	UTSW	15	78,224,902 (GRCm39)	missense	probably benign	0.01
R6984:Csf2rb	UTSW	15	78,229,719 (GRCm39)	missense	probably damaging	1.00
R7484:Csf2rb	UTSW	15	78,223,099 (GRCm39)	missense	possibly damaging	0.53
R7671:Csf2rb	UTSW	15	78,223,130 (GRCm39)	missense	probably damaging	1.00
R7751:Csf2rb	UTSW	15	78,225,839 (GRCm39)	missense	probably damaging	1.00
R7781:Csf2rb	UTSW	15	78,228,771 (GRCm39)	missense	probably benign	0.00
R7861:Csf2rb	UTSW	15	78,233,357 (GRCm39)	missense	probably damaging	1.00
R8135:Csf2rb	UTSW	15	78,232,319 (GRCm39)	missense	possibly damaging	0.95
R8154:Csf2rb	UTSW	15	78,224,642 (GRCm39)	critical splice acceptor site	probably null
R8299:Csf2rb	UTSW	15	78,230,669 (GRCm39)	missense	possibly damaging	0.88
R8315:Csf2rb	UTSW	15	78,231,581 (GRCm39)	missense	possibly damaging	0.83
R8926:Csf2rb	UTSW	15	78,224,749 (GRCm39)	missense	probably benign
R8948:Csf2rb	UTSW	15	78,232,520 (GRCm39)	missense	probably benign	0.05
R8950:Csf2rb	UTSW	15	78,232,520 (GRCm39)	missense	probably benign	0.05
R9265:Csf2rb	UTSW	15	78,232,746 (GRCm39)	missense	probably benign	0.08
R9510:Csf2rb	UTSW	15	78,229,760 (GRCm39)	critical splice donor site	probably null
R9755:Csf2rb	UTSW	15	78,232,824 (GRCm39)	nonsense	probably null
X0024:Csf2rb	UTSW	15	78,220,560 (GRCm39)	missense	probably damaging	1.00
X0028:Csf2rb	UTSW	15	78,233,202 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTAAGTGCCTAGGTTCAAC -3'
(R):5'- AATGGAACCAGTTGCGCTTG -3'

Sequencing Primer
(F):5'- AAGTGCCTAGGTTCAACATCTCTG -3'
(R):5'- GAACCAGTTGCGCTTGACCTC -3'

Posted On

2014-06-23