Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Man1a2'

567380

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

045323-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100469519-100592789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100527421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 333 (L333Q)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

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

AlphaFold

P39098

Predicted Effect

probably damaging
Transcript: ENSMUST00000008907
AA Change: L333Q

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

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: L333Q

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 damaging
Transcript: ENSMUST00000130066
AA Change: L223Q

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

SMART Domains

Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763
AA Change: L223Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,022,993 (GRCm39)	I43T	probably benign	Het
Ankar	G	A	1: 72,690,953 (GRCm39)	Q1175*	probably null	Het
Aqr	G	A	2: 113,934,543 (GRCm39)	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 79,862,392 (GRCm39)		probably null	Het
Atf7ip	T	A	6: 136,542,087 (GRCm39)	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,795,464 (GRCm39)		probably benign	Het
Bcar3	T	A	3: 122,302,142 (GRCm39)	V279E	probably benign	Het
Cd96	C	T	16: 45,892,097 (GRCm39)		probably null	Het
Cdca2	G	A	14: 67,932,440 (GRCm39)	P488S	probably benign	Het
Cfhr4	A	G	1: 139,682,041 (GRCm39)	V185A	possibly damaging	Het
Col4a2	T	G	8: 11,456,856 (GRCm39)		probably null	Het
Cyp4a12a	A	G	4: 115,184,955 (GRCm39)	R379G	possibly damaging	Het
Defb34	A	G	8: 19,176,395 (GRCm39)	S29G	probably benign	Het
Dnah11	A	G	12: 117,959,010 (GRCm39)	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,631,596 (GRCm39)	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,206,015 (GRCm39)	H84L	probably benign	Het
Enah	A	T	1: 181,733,950 (GRCm39)		probably null	Het
Fam178b	G	T	1: 36,698,488 (GRCm39)	Q78K	probably benign	Het
Glb1	A	G	9: 114,302,931 (GRCm39)	N589S	probably damaging	Het
Gm1527	C	T	3: 28,956,429 (GRCm39)	H132Y	probably benign	Het
Gm5799	A	G	14: 43,781,164 (GRCm39)	R22G	possibly damaging	Het
Grip2	T	C	6: 91,755,669 (GRCm39)	D617G	possibly damaging	Het
Hax1	A	T	3: 89,905,873 (GRCm39)	D5E	possibly damaging	Het
Hic1	A	G	11: 75,057,977 (GRCm39)	L304P	probably damaging	Het
Hmox1	T	A	8: 75,823,647 (GRCm39)	I105N	probably damaging	Het
Hormad1	T	C	3: 95,469,866 (GRCm39)	S38P	probably damaging	Het
Hspa4	A	G	11: 53,157,930 (GRCm39)	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,224,730 (GRCm39)	H497L	probably benign	Het
Kcnma1	C	T	14: 23,381,003 (GRCm39)	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,790,475 (GRCm39)	F479S	possibly damaging	Het
Krba1	T	C	6: 48,383,273 (GRCm39)	V203A	probably benign	Het
Lct	G	T	1: 128,246,824 (GRCm39)	P233Q	probably benign	Het
Ly75	T	C	2: 60,164,859 (GRCm39)	D773G	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Myof	A	T	19: 37,899,359 (GRCm39)	S1800R	probably damaging	Het
Nbea	A	C	3: 55,998,452 (GRCm39)	C118W	probably damaging	Het
Nsd3	A	T	8: 26,130,740 (GRCm39)	D35V	probably damaging	Het
Ntaq1	T	C	15: 58,016,006 (GRCm39)	V85A	possibly damaging	Het
Or11g24	G	A	14: 50,662,722 (GRCm39)	V249I	possibly damaging	Het
Or2y1c	G	A	11: 49,360,754 (GRCm39)		probably benign	Het
Pcnx3	C	T	19: 5,736,175 (GRCm39)	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,159,007 (GRCm39)	P462L	probably benign	Het
Pdia5	T	G	16: 35,276,879 (GRCm39)	K96N	probably damaging	Het
Pik3c2a	T	C	7: 115,973,074 (GRCm39)	Y707C	probably damaging	Het
Ppig	A	T	2: 69,579,806 (GRCm39)	N447Y	unknown	Het
Ppp1r9b	T	C	11: 94,895,397 (GRCm39)	L695P	possibly damaging	Het
Proser1	C	T	3: 53,386,125 (GRCm39)	A669V	probably benign	Het
Rdx	A	T	9: 51,980,170 (GRCm39)	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,705,294 (GRCm39)	S95P	probably benign	Het
Slc4a3	T	A	1: 75,534,006 (GRCm39)	S1118T	probably benign	Het
Slf1	G	A	13: 77,199,287 (GRCm39)	P698L	probably benign	Het
Sptbn2	A	G	19: 4,801,602 (GRCm39)	E2338G	probably benign	Het
Taok3	T	A	5: 117,338,216 (GRCm39)	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,816,212 (GRCm39)	L649F	probably damaging	Het
Tdpoz8	A	G	3: 92,981,872 (GRCm39)	T223A	probably benign	Het
Tmem132b	A	T	5: 125,864,710 (GRCm39)	I939F	possibly damaging	Het
Trav17	T	A	14: 54,044,436 (GRCm39)	Y69N	probably benign	Het
Trmt13	T	C	3: 116,388,388 (GRCm39)	D16G	probably benign	Het
Upf2	T	A	2: 5,978,329 (GRCm39)	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875 (GRCm39)	T180A	probably benign	Het
Zfp738	A	T	13: 67,817,672 (GRCm39)	I773N	probably benign	Het
Zscan4e	A	T	7: 11,041,080 (GRCm39)	M264K	probably benign	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
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
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'- AGACTGTCTTAAACTATCCAGCAG -3'
(R):5'- TGTGCTTTGCCTATAAGAGGG -3'

Sequencing Primer
(F):5'- GTCTTAGCACGCTGGCTAC -3'
(R):5'- TTAAAGGCGTGTGTCACCAC -3'

Posted On

2019-06-26