Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Csf2rb2'

734566

Institutional Source

Beutler Lab

Gene Symbol

Csf2rb2

Ensembl Gene

ENSMUSG00000071714

Gene Name

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

Synonyms

Bil3, BetaIl3, Il3rb2, AIC2A, Il3r

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78166707-78189921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78169196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 653 (A653V)

Ref Sequence

ENSEMBL: ENSMUSP00000094083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096356] [ENSMUST00000230115]

AlphaFold

P26954

PDB Structure

Extracellular domains of mouse IL-3 beta receptor [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000096356
AA Change: A653V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: A653V

Domain	Start	End	E-Value	Type
SCOP:d1gh7a1	29	131	1e-57	SMART
FN3	137	225	3.73e-1	SMART
Pfam:IL6Ra-bind	248	342	6.3e-11	PFAM
FN3	343	425	2.83e0	SMART
transmembrane domain	445	467	N/A	INTRINSIC
low complexity region	716	743	N/A	INTRINSIC
low complexity region	824	845	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230115
AA Change: A544V

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000230753

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,231,357 (GRCm39)	S1038R	probably benign	Het
Aar2	T	C	2: 156,392,745 (GRCm39)	F45L	probably damaging	Het
Abcg2	A	G	6: 58,641,533 (GRCm39)	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,243,427 (GRCm39)	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,873,373 (GRCm39)	N52S	probably benign	Het
Asrgl1	T	A	19: 9,093,974 (GRCm39)	T185S	probably damaging	Het
Astl	T	A	2: 127,192,146 (GRCm39)	S234T	probably damaging	Het
Atp5mf	T	C	5: 145,120,656 (GRCm39)	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,396,062 (GRCm39)	R264W	probably damaging	Het
Axin2	T	C	11: 108,840,180 (GRCm39)	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,153,140 (GRCm39)	D145G	possibly damaging	Het
C8b	A	T	4: 104,640,191 (GRCm39)	M165L	probably benign	Het
Cd109	T	C	9: 78,541,944 (GRCm39)	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,060,891 (GRCm39)	P232S	probably damaging	Het
Cnot1	T	C	8: 96,455,772 (GRCm39)	E1995G	probably damaging	Het
Cutc	A	G	19: 43,756,699 (GRCm39)	N264D	probably benign	Het
Cxcr4	C	T	1: 128,516,884 (GRCm39)	W259*	probably null	Het
Dnah8	T	C	17: 30,980,104 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,367,937 (GRCm39)	I652T	probably benign	Het
Dstyk	A	T	1: 132,381,859 (GRCm39)	M538L	probably benign	Het
Eppk1	T	A	15: 75,993,219 (GRCm39)	I1221F	probably benign	Het
Ern2	T	A	7: 121,769,485 (GRCm39)	Y847F	probably damaging	Het
Exosc7	T	A	9: 122,959,990 (GRCm39)	V197D	probably damaging	Het
Gabra1	T	C	11: 42,024,352 (GRCm39)	Y441C	probably damaging	Het
Garem1	G	A	18: 21,262,985 (GRCm39)	P610S	possibly damaging	Het
Garem2	T	A	5: 30,319,330 (GRCm39)	V264E	probably damaging	Het
Gata2	G	A	6: 88,177,272 (GRCm39)	G101S	probably benign	Het
Gcnt4	A	G	13: 97,083,429 (GRCm39)	T242A	probably benign	Het
Ghitm	A	C	14: 36,852,719 (GRCm39)	Y120*	probably null	Het
Gimap7	A	G	6: 48,700,470 (GRCm39)	S19G	probably damaging	Het
Gm5475	G	A	15: 100,324,881 (GRCm39)	G103E	unknown	Het
Gstcd	A	T	3: 132,790,357 (GRCm39)	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,346 (GRCm39)	D111G	probably benign	Het
Ighg2b	A	G	12: 113,270,304 (GRCm39)	I238T		Het
Il2ra	A	C	2: 11,685,161 (GRCm39)	M166L	probably benign	Het
Itga1	A	T	13: 115,171,820 (GRCm39)	L95*	probably null	Het
Itpr3	A	G	17: 27,308,915 (GRCm39)	T373A	probably benign	Het
Klhl28	A	G	12: 64,996,871 (GRCm39)	V490A	probably damaging	Het
Kntc1	A	T	5: 123,898,706 (GRCm39)	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,766,794 (GRCm39)	K167R	probably benign	Het
Lgals1	A	T	15: 78,813,930 (GRCm39)	T63S	probably benign	Het
Lnpep	C	A	17: 17,795,596 (GRCm39)	C305F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mcmbp	A	G	7: 128,311,583 (GRCm39)	I310T	possibly damaging	Het
Mical2	G	A	7: 111,945,996 (GRCm39)	R986H	probably damaging	Het
Muc5b	A	T	7: 141,415,330 (GRCm39)	S2759C	possibly damaging	Het
Myh7	A	G	14: 55,229,384 (GRCm39)	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,344,300 (GRCm39)		probably null	Het
Ndufa10	A	T	1: 92,397,610 (GRCm39)	D145E	possibly damaging	Het
Neo1	T	A	9: 58,801,307 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,701 (GRCm39)	S941T	probably benign	Het
Nrm	T	A	17: 36,172,411 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,907,227 (GRCm39)	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,716 (GRCm39)	I15V	probably benign	Het
Or10al2	T	A	17: 37,983,059 (GRCm39)	N48K	probably damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or1e1c	A	T	11: 73,265,710 (GRCm39)	N48I	probably damaging	Het
Or4b1d	T	A	2: 89,969,004 (GRCm39)	T160S	probably benign	Het
Or52e18	A	T	7: 104,609,657 (GRCm39)	I94N	probably damaging	Het
Or5m10	C	T	2: 85,717,338 (GRCm39)	H65Y	probably damaging	Het
Or5p66	A	T	7: 107,885,898 (GRCm39)	V145D	probably benign	Het
Or7g32	C	A	9: 19,389,382 (GRCm39)	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957 (GRCm39)	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,882,363 (GRCm39)	V708A	probably benign	Het
Pfn3	T	C	13: 55,562,900 (GRCm39)	D27G	possibly damaging	Het
Plch2	A	G	4: 155,095,322 (GRCm39)		probably null	Het
Plin2	C	A	4: 86,576,914 (GRCm39)	Q270H	probably damaging	Het
Polk	A	G	13: 96,630,403 (GRCm39)	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,556,778 (GRCm39)	G286E	probably damaging	Het
Prodh	A	T	16: 17,898,049 (GRCm39)	L276Q	probably damaging	Het
Ranbp10	T	C	8: 106,513,306 (GRCm39)	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,540,097 (GRCm39)	T724K	probably benign	Het
Rnf144a	T	A	12: 26,377,574 (GRCm39)	K56N	probably benign	Het
Rpa1	T	A	11: 75,203,938 (GRCm39)	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,118,340 (GRCm39)	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,724,664 (GRCm39)	I197V	probably benign	Het
Slc35d1	A	T	4: 103,071,946 (GRCm39)	F19I		Het
Sohlh2	A	T	3: 55,099,721 (GRCm39)	E164D	probably damaging	Het
Sord	A	T	2: 122,093,765 (GRCm39)	K295*	probably null	Het
Spata31d1b	A	G	13: 59,860,196 (GRCm39)	Y23C	probably benign	Het
Stard9	T	A	2: 120,510,417 (GRCm39)	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,636,753 (GRCm39)	F99L	probably damaging	Het
Thap12	C	T	7: 98,352,592 (GRCm39)		probably benign	Het
Tmprss9	A	T	10: 80,730,993 (GRCm39)	T840S	probably benign	Het
Trim16	T	A	11: 62,720,026 (GRCm39)		probably null	Het
Ttc16	C	T	2: 32,664,805 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	A	T	1: 66,651,371 (GRCm39)	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,706,060 (GRCm39)	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,464,038 (GRCm39)	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,368,084 (GRCm39)	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,524,662 (GRCm39)	E219D	probably damaging	Het
Zfp248	A	T	6: 118,406,012 (GRCm39)	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,540,558 (GRCm39)	K395E	possibly damaging	Het
Zfp423	G	A	8: 88,506,877 (GRCm39)	P1156S	probably benign	Het
Zfp644	T	C	5: 106,786,131 (GRCm39)	T139A	possibly damaging	Het

Other mutations in Csf2rb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Csf2rb2	APN	15	78,169,047 (GRCm39)	missense	possibly damaging	0.78
IGL00765:Csf2rb2	APN	15	78,176,916 (GRCm39)	missense	probably benign	0.17
IGL01383:Csf2rb2	APN	15	78,181,243 (GRCm39)	missense	possibly damaging	0.90
IGL01975:Csf2rb2	APN	15	78,173,086 (GRCm39)	missense	probably benign	0.01
IGL02330:Csf2rb2	APN	15	78,169,328 (GRCm39)	missense	possibly damaging	0.85
IGL02365:Csf2rb2	APN	15	78,171,260 (GRCm39)	missense	possibly damaging	0.92
IGL02756:Csf2rb2	APN	15	78,169,049 (GRCm39)	missense	possibly damaging	0.95
R0269:Csf2rb2	UTSW	15	78,173,065 (GRCm39)	missense	probably benign	0.09
R0462:Csf2rb2	UTSW	15	78,169,373 (GRCm39)	missense	probably damaging	1.00
R0540:Csf2rb2	UTSW	15	78,172,108 (GRCm39)	missense	probably benign	0.00
R0607:Csf2rb2	UTSW	15	78,172,108 (GRCm39)	missense	probably benign	0.00
R0636:Csf2rb2	UTSW	15	78,176,160 (GRCm39)	nonsense	probably null
R0782:Csf2rb2	UTSW	15	78,170,951 (GRCm39)	missense	probably damaging	0.98
R1387:Csf2rb2	UTSW	15	78,182,414 (GRCm39)	missense	probably damaging	0.99
R1799:Csf2rb2	UTSW	15	78,181,268 (GRCm39)	missense	probably damaging	1.00
R1881:Csf2rb2	UTSW	15	78,176,735 (GRCm39)	splice site	probably null
R2079:Csf2rb2	UTSW	15	78,172,207 (GRCm39)	missense	probably benign	0.13
R2108:Csf2rb2	UTSW	15	78,176,744 (GRCm39)	missense	probably damaging	0.99
R2359:Csf2rb2	UTSW	15	78,176,976 (GRCm39)	missense	probably benign	0.39
R4614:Csf2rb2	UTSW	15	78,175,902 (GRCm39)	missense	probably damaging	1.00
R4806:Csf2rb2	UTSW	15	78,169,490 (GRCm39)	missense	probably benign	0.11
R4900:Csf2rb2	UTSW	15	78,170,174 (GRCm39)	splice site	probably null
R5206:Csf2rb2	UTSW	15	78,176,952 (GRCm39)	missense	probably benign
R5270:Csf2rb2	UTSW	15	78,176,182 (GRCm39)	splice site	probably null
R5427:Csf2rb2	UTSW	15	78,173,111 (GRCm39)	missense	probably damaging	1.00
R6633:Csf2rb2	UTSW	15	78,173,152 (GRCm39)	missense	probably benign	0.00
R7067:Csf2rb2	UTSW	15	78,176,694 (GRCm39)	missense	probably damaging	1.00
R7102:Csf2rb2	UTSW	15	78,181,272 (GRCm39)	missense	probably damaging	1.00
R7117:Csf2rb2	UTSW	15	78,169,385 (GRCm39)	missense	probably damaging	1.00
R7423:Csf2rb2	UTSW	15	78,176,760 (GRCm39)	missense	possibly damaging	0.65
R7453:Csf2rb2	UTSW	15	78,169,491 (GRCm39)	missense	probably benign	0.14
R7705:Csf2rb2	UTSW	15	78,168,774 (GRCm39)	missense	probably benign	0.02
R7788:Csf2rb2	UTSW	15	78,177,041 (GRCm39)	missense	probably benign	0.12
R7849:Csf2rb2	UTSW	15	78,168,621 (GRCm39)	missense	probably benign	0.09
R7851:Csf2rb2	UTSW	15	78,173,137 (GRCm39)	missense	probably benign	0.10
R8057:Csf2rb2	UTSW	15	78,169,206 (GRCm39)	missense	probably damaging	0.99
R8405:Csf2rb2	UTSW	15	78,172,093 (GRCm39)	missense	possibly damaging	0.85
R8406:Csf2rb2	UTSW	15	78,171,216 (GRCm39)	missense	probably benign	0.00
R8857:Csf2rb2	UTSW	15	78,178,613 (GRCm39)	missense	probably null	0.00
R8972:Csf2rb2	UTSW	15	78,172,115 (GRCm39)	missense	probably benign
R9262:Csf2rb2	UTSW	15	78,168,535 (GRCm39)	missense	probably damaging	1.00
R9311:Csf2rb2	UTSW	15	78,176,735 (GRCm39)	splice site	probably null
R9343:Csf2rb2	UTSW	15	78,171,287 (GRCm39)	intron	probably benign
R9478:Csf2rb2	UTSW	15	78,168,965 (GRCm39)	missense	probably benign	0.00
R9713:Csf2rb2	UTSW	15	78,176,730 (GRCm39)	missense	possibly damaging	0.78
RF007:Csf2rb2	UTSW	15	78,176,126 (GRCm39)	missense	probably benign	0.21
RF009:Csf2rb2	UTSW	15	78,176,127 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATCAGAGGCCATCATACTGCC -3'
(R):5'- AATTCCTTCTAGCCGACCCAG -3'

Sequencing Primer
(F):5'- GAGGCCATCATACTGCCCTCAG -3'
(R):5'- AGCTTTGACTTCAATGGGCC -3'

Posted On

2022-11-14