Mutagenetix > Incidental Mutations

Incidental Mutation 'R2924:Man2b2'

255657

Institutional Source

Beutler Lab

Gene Symbol

Man2b2

Ensembl Gene

ENSMUSG00000029119

Gene Name

mannosidase 2, alpha B2

Synonyms

135 kDa alpha-D-mannosidase

MMRRC Submission

040509-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36806921-36830653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36824102 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 224 (F224L)

Ref Sequence

ENSEMBL: ENSMUSP00000031002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031002]

Predicted Effect

probably benign
Transcript: ENSMUST00000031002
AA Change: F224L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: F224L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Glyco_hydro_38	28	351	4e-100	PFAM
Alpha-mann_mid	356	439	3.3e-20	SMART
Pfam:Glyco_hydro_38C	487	1013	2e-98	PFAM

Meta Mutation Damage Score

0.0909

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,209,753	S542P	probably benign	Het
Cass4	A	G	2: 172,426,672	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,627,594	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,872,516	C12Y	probably damaging	Het
Dock6	A	T	9: 21,809,630	I1693N	probably damaging	Het
Fuom	T	C	7: 140,099,949	T110A	probably benign	Het
Gli2	C	T	1: 118,836,359	R1354H	probably benign	Het
Gm5478	A	T	15: 101,643,794		probably null	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Il2rb	T	C	15: 78,491,849	M1V	probably null	Het
Ints6l	A	G	X: 56,504,836	E483G	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Mrgpra1	G	A	7: 47,334,870		probably null	Het
Mtbp	G	A	15: 55,619,814	R429Q	probably benign	Het
Ncapg2	C	A	12: 116,438,729	T727K	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Nup214	A	G	2: 31,998,003	K15E	probably damaging	Het
Olfr394	A	G	11: 73,887,511	I287T	probably damaging	Het
Oxr1	T	C	15: 41,825,957	Y526H	probably benign	Het
Plec	A	G	15: 76,178,252	F2563S	probably damaging	Het
Prex2	A	G	1: 11,098,487	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,492,663		probably null	Het
Slc24a2	A	G	4: 87,011,724	S512P	probably benign	Het
Srd5a1	A	G	13: 69,586,715	S191P	probably damaging	Het
Syt3	T	A	7: 44,395,798	V518E	probably damaging	Het
Tmem132e	T	C	11: 82,444,323	S652P	probably damaging	Het
Uba6	A	T	5: 86,159,271	V102D	probably damaging	Het
Unc13a	A	G	8: 71,644,952	V1158A	possibly damaging	Het
Upk3a	A	G	15: 85,018,149	Y59C	probably benign	Het
Zc3hav1	T	C	6: 38,354,110	Y38C	probably damaging	Het
Zfp119a	C	A	17: 55,868,343	D51Y	possibly damaging	Het

Other mutations in Man2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Man2b2	APN	5	36816143	nonsense	probably null
IGL01098:Man2b2	APN	5	36815556	missense	probably damaging	1.00
IGL01367:Man2b2	APN	5	36814337	nonsense	probably null
IGL01781:Man2b2	APN	5	36813745	missense	possibly damaging	0.80
IGL01809:Man2b2	APN	5	36814516	missense	probably benign	0.01
IGL02824:Man2b2	APN	5	36821851	missense	probably benign	0.09
IGL03323:Man2b2	APN	5	36818514	missense	probably benign	0.07
IGL03333:Man2b2	APN	5	36816139	missense	probably damaging	0.96
R0505:Man2b2	UTSW	5	36816198	missense	probably benign	0.00
R0715:Man2b2	UTSW	5	36826058	missense	probably benign	0.00
R1435:Man2b2	UTSW	5	36813067	missense	probably damaging	0.98
R1536:Man2b2	UTSW	5	36820927	missense	probably benign	0.10
R1944:Man2b2	UTSW	5	36816180	missense	probably benign
R2079:Man2b2	UTSW	5	36814372	missense	possibly damaging	0.64
R2475:Man2b2	UTSW	5	36807875	missense	probably benign	0.01
R2925:Man2b2	UTSW	5	36824102	missense	probably benign	0.01
R2938:Man2b2	UTSW	5	36820986	missense	probably benign	0.27
R3777:Man2b2	UTSW	5	36815527	missense	probably benign	0.00
R3778:Man2b2	UTSW	5	36815527	missense	probably benign	0.00
R3982:Man2b2	UTSW	5	36813820	missense	probably benign	0.10
R4618:Man2b2	UTSW	5	36817639	missense	probably benign	0.06
R4822:Man2b2	UTSW	5	36815521	missense	probably damaging	1.00
R5320:Man2b2	UTSW	5	36810333	missense	probably damaging	1.00
R5394:Man2b2	UTSW	5	36814518	missense	probably benign	0.03
R5468:Man2b2	UTSW	5	36807175	missense	probably benign	0.00
R5993:Man2b2	UTSW	5	36820980	missense	probably benign	0.12
R6053:Man2b2	UTSW	5	36813038	missense	probably benign	0.00
R6083:Man2b2	UTSW	5	36809041	missense	probably damaging	1.00
R6376:Man2b2	UTSW	5	36821034	missense	probably damaging	1.00
R6669:Man2b2	UTSW	5	36810358	missense	probably benign	0.00
R7000:Man2b2	UTSW	5	36821869	missense	probably damaging	1.00
R7108:Man2b2	UTSW	5	36815485	missense	probably benign	0.04
R7376:Man2b2	UTSW	5	36813378	missense	probably damaging	1.00
R7478:Man2b2	UTSW	5	36810313	missense	probably damaging	1.00
R7712:Man2b2	UTSW	5	36810314	missense	probably benign	0.00
R8059:Man2b2	UTSW	5	36816160	missense	probably damaging	1.00
R8471:Man2b2	UTSW	5	36821839	missense	probably damaging	1.00
X0022:Man2b2	UTSW	5	36813892	missense	probably damaging	0.99
Z1088:Man2b2	UTSW	5	36815356	missense	possibly damaging	0.46
Z1177:Man2b2	UTSW	5	36813797	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGGGTTCTATGAGCACC -3'
(R):5'- CCTTTGAAAGAGGCTGAAGGTG -3'

Sequencing Primer
(F):5'- GTTCTATGAGCACCCCGTG -3'
(R):5'- GCATGCGCAATGGACTTG -3'

Posted On

2014-12-29