Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Csf2rb'

607545

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

045914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78210000-78235201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78233357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 888 (D888G)

Ref Sequence

ENSEMBL: ENSMUSP00000094082 (fasta)

Gene Model

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

AlphaFold

P26955

Predicted Effect

probably damaging
Transcript: ENSMUST00000096355
AA Change: D888G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094082
Gene: ENSMUSG00000071713
AA Change: D888G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230264
AA Change: D888G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,797,360 (GRCm39)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,248,075 (GRCm39)	D1175G	probably null	Het
Accs	C	A	2: 93,666,077 (GRCm39)	*503L	probably null	Het
Adgra2	A	G	8: 27,604,485 (GRCm39)	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,681,525 (GRCm39)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,706,990 (GRCm39)	D9A	unknown	Het
Atad2	G	A	15: 57,989,176 (GRCm39)	A228V	probably benign	Het
Atp10a	T	C	7: 58,438,107 (GRCm39)	S430P	probably damaging	Het
Atp1a3	T	C	7: 24,700,573 (GRCm39)	D6G	unknown	Het
Brca1	A	T	11: 101,417,248 (GRCm39)	N295K	possibly damaging	Het
Caly	C	A	7: 139,661,301 (GRCm39)		probably benign	Het
Ces1h	A	G	8: 94,084,053 (GRCm39)	Y386H	unknown	Het
Col14a1	A	G	15: 55,308,012 (GRCm39)	D1044G	unknown	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dhrs7b	T	A	11: 60,746,568 (GRCm39)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,444,324 (GRCm39)	P545S	probably damaging	Het
Dnajc24	A	T	2: 105,832,380 (GRCm39)	M1K	probably null	Het
Dusp12	C	T	1: 170,702,095 (GRCm39)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,492,575 (GRCm39)	G603*	probably null	Het
Eif4g1	T	A	16: 20,498,452 (GRCm39)	V403E	probably benign	Het
Epn3	T	C	11: 94,387,100 (GRCm39)	E90G	probably damaging	Het
Etl4	A	G	2: 20,810,721 (GRCm39)	S1303G	probably benign	Het
Evpl	A	T	11: 116,118,895 (GRCm39)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,493,625 (GRCm39)	L22*	probably null	Het
Fcamr	T	A	1: 130,742,375 (GRCm39)	N587K	probably benign	Het
Fgd6	A	G	10: 93,939,193 (GRCm39)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,523,148 (GRCm39)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,550,280 (GRCm39)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,487,105 (GRCm39)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm39)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,458,788 (GRCm39)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,420,623 (GRCm39)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,917,322 (GRCm39)	D617E	probably damaging	Het
Kifc3	T	A	8: 95,834,165 (GRCm39)		probably null	Het
Kirrel3	C	T	9: 34,931,419 (GRCm39)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,443,820 (GRCm39)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,730,031 (GRCm39)	S3429P	unknown	Het
Lama1	T	G	17: 68,116,216 (GRCm39)	L2361R		Het
Lrp1b	T	C	2: 40,587,570 (GRCm39)	D3895G		Het
Mcoln3	A	C	3: 145,830,546 (GRCm39)	E92A	possibly damaging	Het
Myo3b	T	C	2: 69,939,032 (GRCm39)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,835,204 (GRCm39)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,567,056 (GRCm39)	S541P	probably benign	Het
Nup54	T	C	5: 92,578,952 (GRCm39)	T33A	unknown	Het
Or10al2	C	A	17: 37,983,408 (GRCm39)	Q165K	possibly damaging	Het
Or13a17	T	G	7: 140,271,484 (GRCm39)	I222S	probably damaging	Het
Or1s2	T	C	19: 13,758,810 (GRCm39)	V276A	possibly damaging	Het
Or4k42	T	A	2: 111,320,369 (GRCm39)	I45F	probably damaging	Het
Or51a5	T	A	7: 102,771,899 (GRCm39)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm39)	C18R	probably benign	Het
Pde4d	A	G	13: 110,071,858 (GRCm39)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pidd1	C	A	7: 141,020,055 (GRCm39)	W598L	probably damaging	Het
Pira2	A	T	7: 3,847,543 (GRCm39)	C49S	probably damaging	Het
Pramel11	T	C	4: 143,624,288 (GRCm39)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,550,935 (GRCm39)	D135E	probably benign	Het
Rab15	T	A	12: 76,849,903 (GRCm39)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,715,256 (GRCm39)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,301,406 (GRCm39)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,295,666 (GRCm39)	Q119*	probably null	Het
Suclg2	G	T	6: 95,571,703 (GRCm39)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,227,161 (GRCm39)	M1282K	probably benign	Het
Tbc1d5	T	A	17: 51,063,720 (GRCm39)	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,709,590 (GRCm39)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,087,435 (GRCm39)	F1184Y	probably benign	Het
Trim28	T	A	7: 12,762,339 (GRCm39)	V321E	possibly damaging	Het
Trim5	C	A	7: 103,915,675 (GRCm39)		probably null	Het
Ugt2b37	A	T	5: 87,390,299 (GRCm39)	Y382*	probably null	Het
Usp40	C	T	1: 87,909,852 (GRCm39)	G534D	probably damaging	Het
Usp53	A	T	3: 122,728,112 (GRCm39)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,235,829 (GRCm39)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,449,351 (GRCm39)	I296F	probably benign	Het
Vps13a	T	C	19: 16,632,668 (GRCm39)	S2563G	probably damaging	Het
Wdr59	A	G	8: 112,220,912 (GRCm39)	F207L		Het
Zan	A	G	5: 137,405,295 (GRCm39)	S3777P	unknown	Het
Zfp277	T	C	12: 40,365,880 (GRCm39)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,745,749 (GRCm39)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,013,288 (GRCm39)	H452L	probably damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve28	A	T	5: 34,374,487 (GRCm39)	L509Q	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
R1831:Csf2rb	UTSW	15	78,232,453 (GRCm39)	missense	probably benign	0.03
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
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'- GAAGGCCTCCTTGTTCTTCAG -3'
(R):5'- AAGCACAGGTGGGGTATTGC -3'

Sequencing Primer
(F):5'- CTTCAGCAGGTTGGGGACTAC -3'
(R):5'- ACAGGTGGGGTATTGCCATGTC -3'

Posted On

2019-12-20