Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Csf2rb2'

599698

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

045844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78166707-78189921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78177041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 143 (I143N)

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: I143N

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: I143N

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

probably benign
Transcript: ENSMUST00000230115

Predicted Effect

probably benign
Transcript: ENSMUST00000230753

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	T	14: 68,750,094 (GRCm39)	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,721,433 (GRCm39)	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,546,894 (GRCm39)	D399A	probably benign	Het
Ankrd23	T	C	1: 36,570,808 (GRCm39)	N274S	probably damaging	Het
Aopep	A	T	13: 63,304,407 (GRCm39)	H473L	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Arpc4	A	T	6: 113,362,565 (GRCm39)	M149L	probably benign	Het
Bdp1	T	C	13: 100,191,759 (GRCm39)	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,854,121 (GRCm39)	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,110,319 (GRCm39)	S322P	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	G	9: 9,704,934 (GRCm39)	S622P	probably benign	Het
Col22a1	A	G	15: 71,824,166 (GRCm39)		probably null	Het
Cwh43	T	C	5: 73,572,377 (GRCm39)	L205P	probably damaging	Het
Dennd5b	T	C	6: 148,970,064 (GRCm39)	T52A	probably benign	Het
Dhx40	A	G	11: 86,666,502 (GRCm39)	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,133 (GRCm39)	L268P	probably damaging	Het
Dzip1	A	T	14: 119,120,805 (GRCm39)	D717E	probably benign	Het
Elmo3	A	G	8: 106,034,876 (GRCm39)	N389D	probably damaging	Het
Evi2a	T	C	11: 79,418,768 (GRCm39)	E14G	unknown	Het
Fam149a	T	A	8: 45,834,554 (GRCm39)	R82W	probably damaging	Het
Farp1	A	T	14: 121,513,665 (GRCm39)	E820V	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,443 (GRCm39)	V2214I	possibly damaging	Het
Galnt4	C	A	10: 98,944,975 (GRCm39)	N233K	possibly damaging	Het
Gbp5	A	G	3: 142,208,841 (GRCm39)	Y128C	probably damaging	Het
Gm4871	G	A	5: 144,969,420 (GRCm39)	T33I	probably benign	Het
Gm5592	T	C	7: 40,936,118 (GRCm39)	S207P	probably benign	Het
Gtf2ird1	A	T	5: 134,445,985 (GRCm39)	C15*	probably null	Het
Ido2	T	A	8: 25,037,242 (GRCm39)	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,268 (GRCm39)		probably null	Het
Il15ra	C	T	2: 11,728,404 (GRCm39)	T49I	probably damaging	Het
Itpr3	T	A	17: 27,337,571 (GRCm39)	C2460*	probably null	Het
Kcnj11	T	C	7: 45,749,179 (GRCm39)	N48S	probably damaging	Het
Lmo7	A	C	14: 102,136,012 (GRCm39)	N695T	possibly damaging	Het
Mmp15	C	A	8: 96,094,776 (GRCm39)	H217N	probably damaging	Het
Mtcl2	C	T	2: 156,869,504 (GRCm39)	A1044T	probably benign	Het
Muc21	A	T	17: 35,929,798 (GRCm39)	S1463T	unknown	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,186,627 (GRCm39)	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,126,603 (GRCm39)	N396K	probably damaging	Het
Oas1c	A	G	5: 120,939,107 (GRCm39)	F361L	probably benign	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,948 (GRCm39)	Y144F	probably benign	Het
Osbpl9	T	C	4: 108,919,691 (GRCm39)	K606E	probably benign	Het
Pkp2	C	A	16: 16,043,272 (GRCm39)	L111I	probably benign	Het
Pogz	A	G	3: 94,782,544 (GRCm39)	Y635C	probably damaging	Het
Prdx2	A	G	8: 85,698,303 (GRCm39)	T165A	probably benign	Het
Ptcd3	T	C	6: 71,862,541 (GRCm39)	I465V	probably benign	Het
Ptprd	G	A	4: 75,916,841 (GRCm39)	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,585,225 (GRCm39)	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,634,200 (GRCm39)		probably null	Het
Rimbp3	T	A	16: 17,030,568 (GRCm39)	Y1331N	probably benign	Het
Sav1	T	C	12: 70,030,995 (GRCm39)	R176G	probably damaging	Het
Sirt5	A	G	13: 43,536,623 (GRCm39)	H219R	probably benign	Het
Skint5	T	G	4: 113,403,715 (GRCm39)	D1169A	unknown	Het
Slfn9	G	T	11: 82,873,467 (GRCm39)	Q479K	possibly damaging	Het
Spata31f1e	A	T	4: 42,793,546 (GRCm39)	H195Q	possibly damaging	Het
Susd4	T	C	1: 182,722,767 (GRCm39)	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,232,912 (GRCm39)	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,239,949 (GRCm39)	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,377,429 (GRCm39)	K223*	probably null	Het
Trav3-1	T	C	14: 52,818,581 (GRCm39)	V85A	probably damaging	Het
Ttn	T	C	2: 76,716,100 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,559 (GRCm39)	I344V	not run	Het
Vps13c	A	T	9: 67,847,765 (GRCm39)	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,996,223 (GRCm39)	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,752,654 (GRCm39)	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,691 (GRCm39)	V377D	probably benign	Het
Zswim3	T	C	2: 164,661,699 (GRCm39)	C60R	probably 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
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
R9789:Csf2rb2	UTSW	15	78,169,196 (GRCm39)	missense	probably benign	0.06
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'- GCATCCTGTGGAGATATGGG -3'
(R):5'- GGAGGCCCTACTGAGTTGAAAG -3'

Sequencing Primer
(F):5'- GAGGAACCTGACATGCCATC -3'
(R):5'- CCCTACTGAGTTGAAAGTAAGGC -3'

Posted On

2019-11-26