Mutagenetix > Incidental Mutation

Incidental Mutation 'R8857:Csf2rb2'

675434

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

068677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78166707-78189921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78178613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 111 (D111G)

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 null
Transcript: ENSMUST00000096356
AA Change: D111G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: D111G

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
AA Change: D111G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,119,287 (GRCm39)	L266F	possibly damaging	Het
Adgrf3	A	T	5: 30,402,065 (GRCm39)	C654*	probably null	Het
Adgrl1	C	A	8: 84,657,657 (GRCm39)	A421D	probably benign	Het
Adra1b	C	G	11: 43,727,092 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,399,939 (GRCm39)	V710E	possibly damaging	Het
Arhgef5	T	C	6: 43,264,558 (GRCm39)	V1523A	probably damaging	Het
AW551984	G	C	9: 39,511,831 (GRCm39)	A60G	probably damaging	Het
Bdh1	A	T	16: 31,265,450 (GRCm39)	T42S	probably benign	Het
C130073F10Rik	G	A	4: 101,747,555 (GRCm39)	P158L	possibly damaging	Het
Cacna2d4	A	T	6: 119,248,909 (GRCm39)	K457*	probably null	Het
Chd3	G	A	11: 69,253,146 (GRCm39)	P223L	probably benign	Het
Cnst	T	C	1: 179,437,878 (GRCm39)	S481P	probably damaging	Het
Col6a3	T	A	1: 90,703,485 (GRCm39)	K3027N	unknown	Het
Disc1	A	C	8: 125,891,870 (GRCm39)	E641A	probably damaging	Het
Fbln5	C	A	12: 101,726,990 (GRCm39)	C320F	probably damaging	Het
Fbn2	G	A	18: 58,286,933 (GRCm39)	T242I	probably damaging	Het
Frem1	T	A	4: 82,922,280 (GRCm39)		probably benign	Het
Gpsm1	G	C	2: 26,230,457 (GRCm39)	G469A	possibly damaging	Het
Hic1	A	G	11: 75,056,228 (GRCm39)	I887T	probably benign	Het
Hltf	T	C	3: 20,159,825 (GRCm39)	V692A	probably damaging	Het
Hsd17b13	A	G	5: 104,125,063 (GRCm39)	L40P	probably damaging	Het
Hydin	T	C	8: 111,298,587 (GRCm39)		probably null	Het
Irf2bpl	T	C	12: 86,929,359 (GRCm39)	Y438C	possibly damaging	Het
Itgb4	A	T	11: 115,871,853 (GRCm39)	N219I	probably benign	Het
Knop1	T	C	7: 118,451,949 (GRCm39)	K257E		Het
Krtap19-5	A	T	16: 88,693,139 (GRCm39)	F58I	unknown	Het
L3mbtl2	T	A	15: 81,571,320 (GRCm39)	F709L	unknown	Het
Map1a	G	A	2: 121,138,098 (GRCm39)	R2924H	probably damaging	Het
Mfsd13a	A	G	19: 46,356,567 (GRCm39)	D224G	probably benign	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Morc2a	T	A	11: 3,627,484 (GRCm39)		probably null	Het
Mptx2	T	C	1: 173,102,452 (GRCm39)	E79G	probably benign	Het
Nutm1	A	G	2: 112,081,523 (GRCm39)	M380T	probably benign	Het
Or5ac25	A	T	16: 59,182,041 (GRCm39)	I180N	probably damaging	Het
P2rx1	A	G	11: 72,903,197 (GRCm39)		probably benign	Het
Padi4	A	G	4: 140,501,472 (GRCm39)	I7T	probably damaging	Het
Phf20l1	T	C	15: 66,513,781 (GRCm39)	S1013P	probably benign	Het
Plb1	T	C	5: 32,521,556 (GRCm39)	V1469A	unknown	Het
Polr1g	C	T	7: 19,093,355 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,158,147 (GRCm39)	N150D	probably damaging	Het
Qsox1	A	G	1: 155,658,333 (GRCm39)	V412A	possibly damaging	Het
Rai1	A	G	11: 60,077,393 (GRCm39)	S486G	probably benign	Het
Rev3l	T	A	10: 39,670,965 (GRCm39)	Y170*	probably null	Het
Rims2	T	A	15: 39,543,044 (GRCm39)	M1426K	possibly damaging	Het
Selenoi	C	A	5: 30,461,160 (GRCm39)	S132*	probably null	Het
Shtn1	T	C	19: 58,978,800 (GRCm39)	I498M	probably damaging	Het
Sin3b	T	C	8: 73,483,523 (GRCm39)	M970T	probably benign	Het
Slc17a8	A	G	10: 89,427,022 (GRCm39)	F360L	probably damaging	Het
Slc7a11	A	G	3: 50,393,305 (GRCm39)	Y113H	probably damaging	Het
Spast	T	A	17: 74,675,938 (GRCm39)	M327K	possibly damaging	Het
Sphkap	T	A	1: 83,258,288 (GRCm39)	I152F	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tiam1	A	T	16: 89,662,145 (GRCm39)	S658T	probably damaging	Het
Tmem174	G	T	13: 98,773,433 (GRCm39)	H132Q	probably damaging	Het
Tnfrsf10b	G	A	14: 70,012,543 (GRCm39)	V117I	probably benign	Het
Tnr	A	G	1: 159,713,728 (GRCm39)	T719A	probably benign	Het
Tomm34	G	A	2: 163,896,379 (GRCm39)	P292S	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,615 (GRCm39)	F88Y	probably damaging	Het
Trp63	A	T	16: 25,639,226 (GRCm39)	H138L	probably damaging	Het
U2af2	T	A	7: 5,065,290 (GRCm39)	S2T	probably damaging	Het
Uroc1	T	C	6: 90,334,510 (GRCm39)	V574A	possibly damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp488	A	C	14: 33,692,760 (GRCm39)	S134R	probably benign	Het
Zfp950	T	C	19: 61,116,001 (GRCm39)	D2G	probably benign	Het
Zfyve1	T	A	12: 83,598,374 (GRCm39)	H618L	probably damaging	Het
Zp1	T	G	19: 10,893,888 (GRCm39)	D439A	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
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
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'- TGATAGGTGGCAGAAGCATC -3'
(R):5'- TGCCCTTGGATAAAAGCAGGG -3'

Sequencing Primer
(F):5'- GAGGCCCTGCATCACATCTC -3'
(R):5'- CCCTTGGATAAAAGCAGGGACATAG -3'

Posted On

2021-07-15