Mutagenetix > Incidental Mutation

Incidental Mutation 'R7423:Csf2rb2'

575867

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

045501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78166707-78189921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78176760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 211 (I211F)

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

possibly damaging
Transcript: ENSMUST00000096356
AA Change: I211F

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: I211F

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: 98.8%

Validation Efficiency

96% (91/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 57,175,257 (GRCm39)	M85K	probably benign	Het
Actn4	C	T	7: 28,593,680 (GRCm39)	A905T	probably damaging	Het
Aff1	T	A	5: 103,994,967 (GRCm39)	V1055D	probably damaging	Het
Aox3	A	G	1: 58,160,228 (GRCm39)	E137G	possibly damaging	Het
Apaf1	A	T	10: 90,895,468 (GRCm39)	D443E	probably damaging	Het
Arl5b	C	A	2: 15,072,983 (GRCm39)	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,714,023 (GRCm39)	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,105 (GRCm39)	E13Q	probably null	Het
Atpaf1	A	T	4: 115,647,827 (GRCm39)	K162M	probably damaging	Het
C3	A	T	17: 57,521,767 (GRCm39)	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,764,422 (GRCm39)	L36P	probably damaging	Het
Cct3	T	C	3: 88,216,503 (GRCm39)	L153S	probably benign	Het
Chd4	A	G	6: 125,105,822 (GRCm39)	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,928,845 (GRCm39)	I64V	probably benign	Het
Cnot2	A	T	10: 116,328,303 (GRCm39)	V477E	probably damaging	Het
Dnah8	T	C	17: 30,923,743 (GRCm39)	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,069,175 (GRCm39)	V130A	probably benign	Het
Dock10	G	A	1: 80,501,497 (GRCm39)	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,844,370 (GRCm39)	V910A	probably damaging	Het
Drgx	A	G	14: 32,350,778 (GRCm39)	S205G	probably damaging	Het
Fbrs	G	A	7: 127,088,633 (GRCm39)	W738*	probably null	Het
Fmnl3	T	A	15: 99,227,281 (GRCm39)	D162V	probably damaging	Het
Fosl2	A	G	5: 32,307,807 (GRCm39)	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948 (GRCm39)	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406 (GRCm39)	D273V	probably damaging	Het
Fstl4	T	A	11: 52,959,382 (GRCm39)	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,923,541 (GRCm39)	D535G	probably damaging	Het
Gm19410	A	C	8: 36,271,761 (GRCm39)	D1277A	probably benign	Het
Gnmt	T	A	17: 47,037,066 (GRCm39)	N211Y	probably damaging	Het
Hic2	A	G	16: 17,075,993 (GRCm39)	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,156,849 (GRCm39)		probably benign	Het
Icam5	T	C	9: 20,948,201 (GRCm39)	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,561,120 (GRCm39)	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,719,072 (GRCm39)	S337T	probably damaging	Het
Inf2	G	T	12: 112,576,172 (GRCm39)	R883L	unknown	Het
Inhbc	C	T	10: 127,193,275 (GRCm39)	C247Y	probably damaging	Het
Ints4	A	G	7: 97,156,926 (GRCm39)	K333E	probably damaging	Het
Iyd	A	T	10: 3,497,088 (GRCm39)	I148F	probably damaging	Het
Klk1b26	A	T	7: 43,664,193 (GRCm39)	D16V	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lama2	A	T	10: 27,088,222 (GRCm39)	S852T	probably benign	Het
Mbtd1	A	G	11: 93,834,622 (GRCm39)	E600G	probably benign	Het
Mfap3	T	G	11: 57,420,329 (GRCm39)	N103K	probably damaging	Het
Mtor	G	A	4: 148,640,801 (GRCm39)	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,056,685 (GRCm39)	S1210N	probably benign	Het
Nat8	G	A	6: 85,807,477 (GRCm39)	L219F	probably benign	Het
Nisch	A	G	14: 30,893,658 (GRCm39)	V1305A	probably benign	Het
Nup153	A	T	13: 46,850,120 (GRCm39)		probably null	Het
Or3a1b	G	A	11: 74,012,811 (GRCm39)	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858 (GRCm39)		probably null	Het
Pbld2	A	G	10: 62,883,783 (GRCm39)	T83A	probably damaging	Het
Pcx	A	T	19: 4,671,206 (GRCm39)	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,329,874 (GRCm39)	R81L	probably benign	Het
Pik3cd	A	T	4: 149,736,220 (GRCm39)		probably null	Het
Plch2	A	C	4: 155,068,194 (GRCm39)	D1477E	probably damaging	Het
Plek2	A	G	12: 78,946,884 (GRCm39)	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,315,142 (GRCm39)	V505A	probably benign	Het
Pofut2	T	C	10: 77,098,273 (GRCm39)	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,887,370 (GRCm39)		probably benign	Het
Proca1	G	T	11: 78,085,643 (GRCm39)		probably benign	Het
Ptprs	A	C	17: 56,721,793 (GRCm39)	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,501,856 (GRCm39)	V1127M	probably damaging	Het
Ralbp1	T	C	17: 66,165,976 (GRCm39)	R403G	probably damaging	Het
Reps1	A	T	10: 17,969,635 (GRCm39)	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,293 (GRCm39)	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,287,083 (GRCm39)	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408 (GRCm39)	V951E	probably damaging	Het
Sbf2	A	G	7: 110,038,055 (GRCm39)	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,076,264 (GRCm39)	S560T	probably benign	Het
Slc26a8	A	G	17: 28,867,177 (GRCm39)	I548T	probably benign	Het
Slc2a13	T	A	15: 91,456,883 (GRCm39)	I140F	probably damaging	Het
Smtn	A	T	11: 3,481,200 (GRCm39)		probably null	Het
Sobp	G	T	10: 42,898,564 (GRCm39)	C340*	probably null	Het
Sox6	A	T	7: 115,149,258 (GRCm39)	V413E	probably benign	Het
Spin1	T	C	13: 51,277,326 (GRCm39)		probably null	Het
Sra1	T	C	18: 36,800,536 (GRCm39)	T224A	probably benign	Het
Sv2c	A	T	13: 96,185,056 (GRCm39)	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,511,655 (GRCm39)	A266S	probably damaging	Het
Tprg1	T	G	16: 25,241,003 (GRCm39)	S260A	probably damaging	Het
Trdv2-1	T	A	14: 54,183,935 (GRCm39)	W56R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc4	T	A	3: 54,225,450 (GRCm39)	V933E	probably benign	Het
Ulk4	A	T	9: 120,932,687 (GRCm39)	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,272,743 (GRCm39)	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,445,394 (GRCm39)	S10F	probably benign	Het
Vwce	A	G	19: 10,641,704 (GRCm39)	E810G	probably benign	Het
Wdr7	T	A	18: 63,910,451 (GRCm39)		probably null	Het
Wnk2	T	A	13: 49,191,608 (GRCm39)	E1283V	probably benign	Het
Zfp28	T	C	7: 6,396,956 (GRCm39)	C464R	probably damaging	Het
Zpld1	C	T	16: 55,054,027 (GRCm39)	C255Y	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
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
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'- TTGAGGTAGGGCAGATCCTG -3'
(R):5'- TCTCCTGGCTTTCATCAAAGG -3'

Sequencing Primer
(F):5'- GCAGATCCTGGAGCCTTACTC -3'
(R):5'- CTCCTGGCTTTCATCAAAGGACATAG -3'

Posted On

2019-10-07