Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Man1a2'

235528

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100469519-100592789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100499216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 406 (L406P)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

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

AlphaFold

P39098

Predicted Effect

probably damaging
Transcript: ENSMUST00000008907
AA Change: L406P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: L406P

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

noncoding transcript
Transcript: ENSMUST00000133642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197836

Meta Mutation Damage Score

0.8678

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,238,532 (GRCm39)	T710M	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Acsl1	A	G	8: 46,986,627 (GRCm39)	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,217,983 (GRCm39)	T207K	probably benign	Het
Ahnak	A	T	19: 8,988,858 (GRCm39)	K3381*	probably null	Het
Art1	T	C	7: 101,756,031 (GRCm39)	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,799,012 (GRCm39)	W270R	probably benign	Het
Calm2	T	C	17: 87,742,573 (GRCm39)	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,831,452 (GRCm39)	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249 (GRCm39)	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,367,707 (GRCm39)	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,320,509 (GRCm39)	T768A	probably damaging	Het
Cog5	T	C	12: 31,887,288 (GRCm39)	F470L	probably damaging	Het
Cpne5	T	C	17: 29,381,306 (GRCm39)	D374G	probably damaging	Het
Disp2	A	C	2: 118,622,166 (GRCm39)	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,573,344 (GRCm39)		probably benign	Het
Eif2b3	T	A	4: 116,885,737 (GRCm39)	I93N	probably damaging	Het
Elfn2	C	A	15: 78,556,646 (GRCm39)	V634L	probably benign	Het
Fasl	T	G	1: 161,614,707 (GRCm39)	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,901 (GRCm39)	P701A	probably damaging	Het
Helz	T	A	11: 107,563,790 (GRCm39)		probably benign	Het
Kctd6	T	C	14: 8,222,683 (GRCm38)	V175A	probably benign	Het
Leo1	A	G	9: 75,352,991 (GRCm39)	N178S	probably benign	Het
Lhx6	C	A	2: 35,993,371 (GRCm39)	R80L	probably damaging	Het
Mapkap1	T	C	2: 34,487,494 (GRCm39)	F231L	probably damaging	Het
Mknk2	A	G	10: 80,504,535 (GRCm39)	Y256H	probably damaging	Het
Msh6	A	G	17: 88,296,911 (GRCm39)	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,467,376 (GRCm39)	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,479,781 (GRCm39)	Q66K	probably benign	Het
Nsd2	T	A	5: 34,040,263 (GRCm39)	H933Q	probably damaging	Het
Or10h5	T	A	17: 33,434,542 (GRCm39)	I262F	probably damaging	Het
Or13p3	T	C	4: 118,567,252 (GRCm39)	V216A	probably benign	Het
Or2d3c	A	G	7: 106,525,797 (GRCm39)	Y290H	probably damaging	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rassf6	C	T	5: 90,751,797 (GRCm39)	E308K	probably damaging	Het
Rb1	T	C	14: 73,449,091 (GRCm39)	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,113,852 (GRCm39)	I104F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnase6	A	C	14: 51,367,974 (GRCm39)	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,531,792 (GRCm39)	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,015,601 (GRCm39)	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,398,817 (GRCm39)	Y261*	probably null	Het
Supt6	G	A	11: 78,098,993 (GRCm39)	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,233,771 (GRCm39)		probably benign	Het
Telo2	A	G	17: 25,329,792 (GRCm39)	V240A	probably benign	Het
Trhr	C	T	15: 44,092,638 (GRCm39)	L292F	probably damaging	Het
Trps1	G	A	15: 50,695,126 (GRCm39)	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429 (GRCm38)		probably benign	Het
Yeats2	T	C	16: 20,032,151 (GRCm39)		probably benign	Het
Zbtb39	G	A	10: 127,578,844 (GRCm39)	E473K	probably benign	Het
Zfp235	T	A	7: 23,840,387 (GRCm39)	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,056,063 (GRCm39)	P141Q	possibly 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
R0217:Man1a2	UTSW	3	100,524,353 (GRCm39)	missense	possibly damaging	0.61
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
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'- ATAGTACATGTACTTCCTAGATGCC -3'
(R):5'- TGTACTCCTACTTGACTAAGTTTGG -3'

Sequencing Primer
(F):5'- CTTCCTAGATGCCTATAATAAAACGG -3'
(R):5'- GGCATGCCACTATGATTAACTG -3'

Posted On

2014-10-01