Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Csf2rb2'

652443

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

067765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78166707-78189921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78171216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 457 (T457A)

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: T457A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000094083
Gene: ENSMUSG00000071714
AA Change: T457A

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: T348A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000230753

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,977,343 (GRCm39)	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,343,082 (GRCm39)	D288E	probably benign	Het
Agbl1	A	G	7: 76,068,415 (GRCm39)	E327G		Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Arl3	A	T	19: 46,530,823 (GRCm39)	S157T	probably benign	Het
Armc3	A	T	2: 19,240,365 (GRCm39)	I41F	probably damaging	Het
Atg9a	A	C	1: 75,167,028 (GRCm39)	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,093,984 (GRCm39)	H509Q	probably benign	Het
Cabyr	C	A	18: 12,883,804 (GRCm39)	T97K	probably benign	Het
Ccdc91	T	C	6: 147,438,920 (GRCm39)	F174S	possibly damaging	Het
Cep350	A	T	1: 155,798,164 (GRCm39)	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,439,136 (GRCm39)	N40K	probably damaging	Het
Col4a4	G	A	1: 82,501,611 (GRCm39)	P381S	unknown	Het
Cpne5	A	T	17: 29,428,455 (GRCm39)	F116Y	probably benign	Het
Cyb5d2	T	C	11: 72,679,959 (GRCm39)	E112G	probably benign	Het
Cyp2b13	T	C	7: 25,781,223 (GRCm39)	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779 (GRCm39)	S134A	probably benign	Het
Egln1	A	G	8: 125,638,489 (GRCm39)	Y380H	probably benign	Het
Fbxl13	A	T	5: 21,728,652 (GRCm39)	I479N	probably damaging	Het
Fhip1a	G	T	3: 85,580,027 (GRCm39)	P726Q	probably benign	Het
Fis1	A	G	5: 136,991,865 (GRCm39)	K20E	probably benign	Het
Foxk1	G	T	5: 142,387,528 (GRCm39)	V84L	unknown	Het
Gdf5	C	A	2: 155,784,272 (GRCm39)	G227W	probably damaging	Het
Ghrh	T	A	2: 157,175,656 (GRCm39)	T13S	probably benign	Het
Gnb2	A	G	5: 137,526,865 (GRCm39)	L308P	probably damaging	Het
Grik2	A	T	10: 49,148,863 (GRCm39)	V574D	probably damaging	Het
Hydin	A	T	8: 111,336,543 (GRCm39)	I5107F	possibly damaging	Het
Kl	A	T	5: 150,906,229 (GRCm39)	Y533F	probably benign	Het
Man2b1	G	T	8: 85,822,907 (GRCm39)	R816L	probably damaging	Het
Myo5c	T	C	9: 75,182,823 (GRCm39)	Y821H	probably damaging	Het
Myo7b	A	T	18: 32,092,866 (GRCm39)	C2076S	probably damaging	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,472,275 (GRCm39)	V38E	probably damaging	Het
Or13a24	A	T	7: 140,154,044 (GRCm39)		probably benign	Het
Osbpl9	T	C	4: 108,921,770 (GRCm39)	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,710,998 (GRCm39)	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,606,428 (GRCm39)	K2149E	probably benign	Het
Pds5a	A	T	5: 65,803,681 (GRCm39)	C588S	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pop1	T	C	15: 34,529,316 (GRCm39)	M812T	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Rab44	C	T	17: 29,359,294 (GRCm39)	A494V	unknown	Het
Ros1	G	C	10: 51,977,941 (GRCm39)	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,289,425 (GRCm39)	F644L	probably damaging	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,397,198 (GRCm39)	E383D	probably damaging	Het
Sh3rf3	T	C	10: 58,919,407 (GRCm39)	V508A	probably damaging	Het
Sirt6	A	T	10: 81,458,328 (GRCm39)	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,900,706 (GRCm39)	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,648,742 (GRCm39)	E171K	probably benign	Het
Spg11	T	A	2: 121,923,923 (GRCm39)	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,137,658 (GRCm39)	W894R	probably damaging	Het
Tiam2	A	C	17: 3,558,065 (GRCm39)	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,019,265 (GRCm39)	L190P	probably damaging	Het
Trim35	C	T	14: 66,534,724 (GRCm39)	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,645,779 (GRCm39)	Y546H	probably benign	Het
Ubash3b	C	T	9: 40,940,971 (GRCm39)	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034 (GRCm39)	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,847,414 (GRCm39)	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,687,719 (GRCm39)	L60Q	probably damaging	Het
Ythdf2	A	G	4: 131,931,946 (GRCm39)	W405R	probably damaging	Het
Zfp775	T	C	6: 48,597,637 (GRCm39)	C504R	probably damaging	Het
Zfp82	A	G	7: 29,761,652 (GRCm39)		probably null	Het
Zpr1	T	A	9: 46,185,400 (GRCm39)	I127N	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
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'- GAGGTTCCATAGACCTCTGTGC -3'
(R):5'- CCCATATTGAAGACAGGGTACG -3'

Sequencing Primer
(F):5'- AGCTACTTCTGTGCCCATGTATAGAG -3'
(R):5'- GTACGGACCCAGGGTTTCTTC -3'

Posted On

2020-10-20