Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02528:Man2a2'

297178

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Man2a2

Ensembl Gene

ENSMUSG00000038886

Gene Name

mannosidase 2, alpha 2

Synonyms

MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL02528

Quality Score

Status

Chromosome

Chromosomal Location

79998845-80021123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80009388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 822 (A822V)

Ref Sequence

ENSEMBL: ENSMUSP00000095949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000206301] [ENSMUST00000206807]

AlphaFold

Q8BRK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098346
AA Change: A822V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: A822V

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
coiled coil region	44	75	N/A	INTRINSIC
Pfam:Glyco_hydro_38	167	497	1.9e-109	PFAM
Alpha-mann_mid	502	588	1.4e-32	SMART
Pfam:Glyco_hydro_38C	648	1148	1.1e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205535

Predicted Effect

probably benign
Transcript: ENSMUST00000205853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206066

Predicted Effect

probably benign
Transcript: ENSMUST00000206301

Predicted Effect

silent
Transcript: ENSMUST00000206807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206917

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null males are infertile due to a defect during spermatogenesis involving the premature release of germ cells from the seminiferous tubules into the epididymis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	A	6: 65,930,357 (GRCm39)		probably benign	Het
4933416I08Rik	T	A	X: 52,580,792 (GRCm39)	N54I	probably damaging	Het
Abcc2	A	G	19: 43,786,943 (GRCm39)	D188G	probably benign	Het
Akap11	T	C	14: 78,748,307 (GRCm39)	Y1360C	probably damaging	Het
Bltp2	T	C	11: 78,162,802 (GRCm39)	V888A	possibly damaging	Het
C920021L13Rik	A	G	3: 95,794,628 (GRCm39)		probably benign	Het
Ccdc89	A	T	7: 90,076,819 (GRCm39)	Q343L	probably damaging	Het
Cep350	A	T	1: 155,770,361 (GRCm39)	M1843K	probably damaging	Het
Ces2b	T	C	8: 105,561,601 (GRCm39)	S232P	probably damaging	Het
Eprs1	G	T	1: 185,145,686 (GRCm39)	R1165L	probably damaging	Het
Ercc5	A	G	1: 44,206,962 (GRCm39)	E625G	probably benign	Het
Evi5l	T	C	8: 4,243,172 (GRCm39)	V352A	probably benign	Het
Ggt5	T	C	10: 75,446,254 (GRCm39)		probably benign	Het
Gm11564	T	A	11: 99,706,293 (GRCm39)	R46*	probably null	Het
Herc2	A	G	7: 55,758,641 (GRCm39)		probably benign	Het
Kash5	T	C	7: 44,833,170 (GRCm39)		probably benign	Het
Kcnh8	A	G	17: 53,110,556 (GRCm39)	S256G	probably damaging	Het
Mast4	T	C	13: 102,990,331 (GRCm39)	*255W	probably null	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Noxa1	A	G	2: 24,980,645 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,036,395 (GRCm39)		probably benign	Het
Pcna-ps2	A	T	19: 9,261,331 (GRCm39)	I197L	probably benign	Het
Pde8a	A	G	7: 80,942,937 (GRCm39)		probably benign	Het
Polr1a	C	A	6: 71,941,701 (GRCm39)	Q1070K	probably benign	Het
Pum2	G	T	12: 8,778,696 (GRCm39)	G449*	probably null	Het
Rab29	T	C	1: 131,797,749 (GRCm39)		probably benign	Het
Rpap1	T	A	2: 119,605,431 (GRCm39)		probably null	Het
Scn7a	A	G	2: 66,530,519 (GRCm39)	Y609H	probably damaging	Het
Slit3	T	C	11: 35,469,801 (GRCm39)	S268P	probably benign	Het
Stat2	C	T	10: 128,126,534 (GRCm39)	T753I	probably benign	Het
Susd6	T	C	12: 80,916,945 (GRCm39)	V160A	probably damaging	Het
Tex52	A	G	6: 128,356,460 (GRCm39)	E51G	possibly damaging	Het
Tmem102	T	A	11: 69,694,532 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,720,582 (GRCm39)		probably benign	Het
Ubtd2	T	A	11: 32,449,249 (GRCm39)	L32*	probably null	Het
Usp38	T	C	8: 81,719,864 (GRCm39)	Y455C	probably damaging	Het
Wwp2	T	C	8: 108,281,099 (GRCm39)	F671L	probably benign	Het
Xlr3a	T	C	X: 72,138,573 (GRCm39)	N29D	possibly damaging	Het
Zan	T	C	5: 137,463,403 (GRCm39)	E592G	possibly damaging	Het
Zmat4	T	A	8: 24,505,212 (GRCm39)	S151T	probably damaging	Het
Znfx1	T	C	2: 166,892,324 (GRCm39)	T631A	probably benign	Het

Other mutations in Man2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Man2a2	APN	7	80,010,880 (GRCm39)	missense	possibly damaging	0.94
IGL01405:Man2a2	APN	7	80,010,682 (GRCm39)	missense	probably benign	0.00
IGL01717:Man2a2	APN	7	80,017,113 (GRCm39)	missense	probably damaging	1.00
IGL01843:Man2a2	APN	7	80,012,654 (GRCm39)	missense	probably benign
IGL02212:Man2a2	APN	7	80,012,056 (GRCm39)	missense	probably benign	0.00
IGL02383:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02434:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02493:Man2a2	APN	7	80,019,363 (GRCm39)	missense	possibly damaging	0.68
IGL02529:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02530:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02534:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02869:Man2a2	APN	7	80,013,689 (GRCm39)	missense	probably benign	0.00
IGL03084:Man2a2	APN	7	80,002,691 (GRCm39)	missense	possibly damaging	0.88
IGL03088:Man2a2	APN	7	80,009,082 (GRCm39)	missense	possibly damaging	0.91
IGL03377:Man2a2	APN	7	80,008,800 (GRCm39)	splice site	probably null
IGL03412:Man2a2	APN	7	80,016,746 (GRCm39)	missense	probably damaging	1.00
dugong	UTSW	7	80,010,669 (GRCm39)	missense	probably benign	0.12
R2090_Man2a2_705	UTSW	7	80,013,858 (GRCm39)	unclassified	probably benign
R7828_Man2a2_437	UTSW	7	80,016,674 (GRCm39)	missense	probably damaging	0.98
R0112:Man2a2	UTSW	7	80,008,024 (GRCm39)	missense	probably damaging	0.99
R0119:Man2a2	UTSW	7	80,017,153 (GRCm39)	missense	probably damaging	1.00
R0646:Man2a2	UTSW	7	80,012,945 (GRCm39)	missense	possibly damaging	0.53
R1184:Man2a2	UTSW	7	80,012,713 (GRCm39)	missense	possibly damaging	0.79
R1445:Man2a2	UTSW	7	80,018,310 (GRCm39)	missense	probably benign	0.06
R1626:Man2a2	UTSW	7	80,017,450 (GRCm39)	missense	probably damaging	1.00
R1739:Man2a2	UTSW	7	80,012,186 (GRCm39)	missense	probably benign	0.10
R1820:Man2a2	UTSW	7	80,008,681 (GRCm39)	missense	probably benign	0.22
R2090:Man2a2	UTSW	7	80,013,858 (GRCm39)	unclassified	probably benign
R2144:Man2a2	UTSW	7	80,013,264 (GRCm39)	missense	probably damaging	1.00
R2150:Man2a2	UTSW	7	80,017,532 (GRCm39)	missense	probably damaging	1.00
R3882:Man2a2	UTSW	7	80,012,063 (GRCm39)	missense	possibly damaging	0.70
R4181:Man2a2	UTSW	7	80,001,487 (GRCm39)	missense	possibly damaging	0.79
R4285:Man2a2	UTSW	7	80,018,367 (GRCm39)	missense	probably damaging	1.00
R4302:Man2a2	UTSW	7	80,001,487 (GRCm39)	missense	possibly damaging	0.79
R4440:Man2a2	UTSW	7	80,001,463 (GRCm39)	missense	probably benign	0.37
R4494:Man2a2	UTSW	7	80,009,023 (GRCm39)	splice site	probably null
R4564:Man2a2	UTSW	7	80,018,586 (GRCm39)	missense	probably benign	0.00
R4631:Man2a2	UTSW	7	80,012,211 (GRCm39)	missense	probably benign	0.10
R5328:Man2a2	UTSW	7	80,018,504 (GRCm39)	missense	probably benign	0.06
R5329:Man2a2	UTSW	7	80,010,876 (GRCm39)	missense	possibly damaging	0.82
R5468:Man2a2	UTSW	7	80,002,729 (GRCm39)	missense	probably damaging	0.98
R5774:Man2a2	UTSW	7	80,018,106 (GRCm39)	missense	probably damaging	1.00
R5824:Man2a2	UTSW	7	80,002,780 (GRCm39)	missense	probably benign	0.00
R5915:Man2a2	UTSW	7	80,010,669 (GRCm39)	missense	probably benign	0.12
R5937:Man2a2	UTSW	7	80,013,251 (GRCm39)	missense	probably damaging	1.00
R6101:Man2a2	UTSW	7	80,016,749 (GRCm39)	missense	probably damaging	1.00
R6105:Man2a2	UTSW	7	80,016,749 (GRCm39)	missense	probably damaging	1.00
R6481:Man2a2	UTSW	7	80,013,819 (GRCm39)	missense	probably damaging	0.99
R6592:Man2a2	UTSW	7	80,002,947 (GRCm39)	missense	probably damaging	0.98
R6869:Man2a2	UTSW	7	80,012,693 (GRCm39)	missense	probably benign	0.35
R6918:Man2a2	UTSW	7	80,002,940 (GRCm39)	missense	possibly damaging	0.91
R7137:Man2a2	UTSW	7	80,009,499 (GRCm39)	missense	probably benign	0.19
R7236:Man2a2	UTSW	7	80,018,653 (GRCm39)	missense	probably damaging	1.00
R7496:Man2a2	UTSW	7	80,002,745 (GRCm39)	missense	probably damaging	1.00
R7522:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7523:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7524:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7583:Man2a2	UTSW	7	80,016,692 (GRCm39)	missense	probably damaging	1.00
R7681:Man2a2	UTSW	7	80,001,497 (GRCm39)	missense	possibly damaging	0.49
R7828:Man2a2	UTSW	7	80,016,674 (GRCm39)	missense	probably damaging	0.98
R7843:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7845:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7847:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7848:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7984:Man2a2	UTSW	7	80,003,056 (GRCm39)	missense	probably damaging	0.99
R8194:Man2a2	UTSW	7	80,010,766 (GRCm39)	missense	probably benign
R8296:Man2a2	UTSW	7	80,018,656 (GRCm39)	missense	probably damaging	0.99
R8376:Man2a2	UTSW	7	80,010,671 (GRCm39)	nonsense	probably null
R8515:Man2a2	UTSW	7	80,018,038 (GRCm39)	missense	possibly damaging	0.88
R8842:Man2a2	UTSW	7	80,003,067 (GRCm39)	missense	probably damaging	1.00
R9205:Man2a2	UTSW	7	80,010,868 (GRCm39)	missense	probably benign
R9563:Man2a2	UTSW	7	80,006,101 (GRCm39)	missense	probably benign
X0057:Man2a2	UTSW	7	80,012,072 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16