Mutagenetix > Incidental Mutation

Incidental Mutation 'R0217:Man1a2'

33603

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

038466-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0217 (G1)

Quality Score

208

Status

Validated (trace)

Chromosome

Chromosomal Location

100469519-100592789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100524353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 365 (L365P)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008907] [ENSMUST00000130066]

AlphaFold

P39098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008907
AA Change: L365P

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: L365P

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
coiled coil region	101	153	N/A	INTRINSIC
low complexity region	155	170	N/A	INTRINSIC
Pfam:Glyco_hydro_47	187	626	2.8e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130066

SMART Domains

Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763

Domain	Start	End	E-Value	Type
coiled coil region	18	70	N/A	INTRINSIC
low complexity region	72	87	N/A	INTRINSIC
Pfam:Glyco_hydro_47	104	179	1.2e-23	PFAM
Pfam:Glyco_hydro_47	174	246	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133642

Meta Mutation Damage Score

0.5467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,447,956 (GRCm39)		probably benign	Het
Actr3	A	G	1: 125,335,150 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,933 (GRCm39)		probably benign	Het
Afap1l1	A	G	18: 61,879,940 (GRCm39)	V310A	probably damaging	Het
Alms1	T	A	6: 85,599,912 (GRCm39)	S2048R	probably damaging	Het
Aspm	T	A	1: 139,385,618 (GRCm39)	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,339,589 (GRCm39)	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,752,257 (GRCm39)		probably benign	Het
Cdc23	T	C	18: 34,784,718 (GRCm39)	T15A	unknown	Het
Cdk19	C	T	10: 40,352,254 (GRCm39)		probably benign	Het
Comp	A	C	8: 70,831,558 (GRCm39)	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230 (GRCm39)	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,382,625 (GRCm39)		probably benign	Het
Eci3	A	C	13: 35,132,072 (GRCm39)	S259A	probably benign	Het
Fcnb	T	C	2: 27,969,689 (GRCm39)	D126G	probably benign	Het
Foxk1	T	C	5: 142,387,649 (GRCm39)	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,825,231 (GRCm39)	Y61C	probably damaging	Het
Hmgcr	A	C	13: 96,788,488 (GRCm39)	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311 (GRCm39)	E100G	probably damaging	Het
Itgb2	G	T	10: 77,384,370 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,274,050 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,550,029 (GRCm39)	S2333P	probably damaging	Het
Map2k5	A	T	9: 63,164,257 (GRCm39)		probably null	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Megf8	T	A	7: 25,063,504 (GRCm39)	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,319,400 (GRCm39)		probably benign	Het
Or11h7	A	G	14: 50,891,552 (GRCm39)	N286S	probably damaging	Het
Or1e30	T	A	11: 73,678,214 (GRCm39)	V150E	possibly damaging	Het
Or5p1	C	A	7: 107,916,505 (GRCm39)	H135N	probably benign	Het
Pank3	T	A	11: 35,668,555 (GRCm39)	D181E	probably benign	Het
Pip5k1a	A	G	3: 94,981,302 (GRCm39)		probably null	Het
Plag1	A	C	4: 3,904,379 (GRCm39)	S271A	probably benign	Het
Plxna2	T	A	1: 194,326,906 (GRCm39)	I280N	probably damaging	Het
Polr1a	T	C	6: 71,940,687 (GRCm39)	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,756,640 (GRCm39)	D428E	probably damaging	Het
Prelid2	A	T	18: 42,068,317 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,393,830 (GRCm39)	Y881C	probably damaging	Het
Rptor	T	C	11: 119,785,738 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,542,387 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,039,570 (GRCm39)	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,096,986 (GRCm39)	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,382,005 (GRCm39)	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,874,700 (GRCm39)	V201I	probably benign	Het
Slc6a13	T	A	6: 121,301,279 (GRCm39)	N189K	probably damaging	Het
Smco1	G	T	16: 32,092,599 (GRCm39)	R90L	possibly damaging	Het
Stim1	T	A	7: 102,085,007 (GRCm39)	M653K	probably benign	Het
Stxbp1	T	C	2: 32,691,882 (GRCm39)	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,536,496 (GRCm39)		noncoding transcript	Het
Tgtp1	A	C	11: 48,878,146 (GRCm39)	S186R	probably benign	Het
Trpc7	C	T	13: 56,937,581 (GRCm39)	W570*	probably null	Het
Trpv4	C	A	5: 114,772,722 (GRCm39)	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,214,634 (GRCm39)	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,544,336 (GRCm39)	V653E	probably damaging	Het
Zfp113	T	C	5: 138,148,953 (GRCm39)	R64G	probably benign	Het
Zfp661	C	T	2: 127,419,211 (GRCm39)	E310K	probably damaging	Het
Zfp735	T	A	11: 73,602,112 (GRCm39)	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,939,293 (GRCm39)	L863P	probably damaging	Het
Zzef1	T	A	11: 72,779,894 (GRCm39)	I1889N	probably damaging	Het

Other mutations in Man1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Man1a2	APN	3	100,551,873 (GRCm39)	missense	probably damaging	1.00
IGL02009:Man1a2	APN	3	100,591,978 (GRCm39)	missense	probably damaging	0.99
IGL02097:Man1a2	APN	3	100,489,447 (GRCm39)	missense	possibly damaging	0.68
IGL02395:Man1a2	APN	3	100,551,853 (GRCm39)	splice site	probably null
IGL02441:Man1a2	APN	3	100,499,189 (GRCm39)	missense	probably benign	0.01
R0043:Man1a2	UTSW	3	100,495,196 (GRCm39)	missense	probably damaging	1.00
R0064:Man1a2	UTSW	3	100,499,199 (GRCm39)	missense	possibly damaging	0.95
R0266:Man1a2	UTSW	3	100,489,350 (GRCm39)	missense	probably damaging	1.00
R0284:Man1a2	UTSW	3	100,592,102 (GRCm39)	missense	probably damaging	0.98
R0633:Man1a2	UTSW	3	100,591,891 (GRCm39)	missense	possibly damaging	0.80
R1074:Man1a2	UTSW	3	100,563,402 (GRCm39)	missense	possibly damaging	0.68
R2167:Man1a2	UTSW	3	100,499,216 (GRCm39)	missense	probably damaging	1.00
R2177:Man1a2	UTSW	3	100,539,847 (GRCm39)	missense	probably damaging	1.00
R3822:Man1a2	UTSW	3	100,539,913 (GRCm39)	missense	possibly damaging	0.48
R4361:Man1a2	UTSW	3	100,563,358 (GRCm39)	missense	probably benign
R4652:Man1a2	UTSW	3	100,539,877 (GRCm39)	missense	probably damaging	1.00
R4871:Man1a2	UTSW	3	100,524,372 (GRCm39)	missense	probably damaging	1.00
R5153:Man1a2	UTSW	3	100,563,579 (GRCm39)	missense	probably damaging	1.00
R5182:Man1a2	UTSW	3	100,554,333 (GRCm39)	missense	probably damaging	0.99
R5201:Man1a2	UTSW	3	100,524,328 (GRCm39)	missense	probably benign
R5251:Man1a2	UTSW	3	100,527,415 (GRCm39)	missense	probably damaging	1.00
R6135:Man1a2	UTSW	3	100,592,248 (GRCm39)	start gained	probably benign
R6793:Man1a2	UTSW	3	100,539,913 (GRCm39)	missense	possibly damaging	0.48
R6886:Man1a2	UTSW	3	100,563,387 (GRCm39)	missense	probably benign	0.00
R7209:Man1a2	UTSW	3	100,554,395 (GRCm39)	missense	unknown
R7224:Man1a2	UTSW	3	100,489,369 (GRCm39)	missense	possibly damaging	0.85
R7308:Man1a2	UTSW	3	100,527,421 (GRCm39)	missense	probably damaging	1.00
R7815:Man1a2	UTSW	3	100,563,495 (GRCm39)	missense	probably damaging	0.99
R7826:Man1a2	UTSW	3	100,489,455 (GRCm39)	missense	probably damaging	1.00
R8427:Man1a2	UTSW	3	100,592,001 (GRCm39)	missense	probably benign	0.18
R9621:Man1a2	UTSW	3	100,591,961 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGCTCACCTTTCACTGTATCAAGC -3'
(R):5'- TGAAAGCCGCTAACAGAGCTGAC -3'

Sequencing Primer
(F):5'- CCTTTCACTGTATCAAGCAAAGAC -3'
(R):5'- TCCATTAACCTCAGGGAGGTC -3'

Posted On

2013-05-09