Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02530:Man2a2'

297261

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: 0.231) question?

Stock #

IGL02530

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
Adamts17	T	C	7: 66,559,124 (GRCm39)	F305L	probably damaging	Het
Ankrd12	T	C	17: 66,291,398 (GRCm39)	H1345R	probably benign	Het
Bloc1s5	A	T	13: 38,787,859 (GRCm39)	M175K	probably damaging	Het
C9	T	A	15: 6,526,613 (GRCm39)	M549K	probably benign	Het
Cfap52	A	G	11: 67,845,007 (GRCm39)		probably benign	Het
Cntnap2	A	T	6: 46,998,670 (GRCm39)	K907N	possibly damaging	Het
Cox8c	T	A	12: 102,865,752 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26b1	A	T	6: 84,551,294 (GRCm39)	N307K	possibly damaging	Het
Cyp2s1	T	C	7: 25,515,849 (GRCm39)		probably benign	Het
Dpysl2	G	A	14: 67,061,847 (GRCm39)	T253I	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Egflam	T	A	15: 7,252,293 (GRCm39)	I835F	probably damaging	Het
Eif5a	A	T	11: 69,809,989 (GRCm39)	H51Q	possibly damaging	Het
Fancd2	T	A	6: 113,539,422 (GRCm39)	I637N	probably damaging	Het
Gpr173	T	A	X: 151,130,092 (GRCm39)	H127L	probably damaging	Het
Klc3	T	C	7: 19,130,969 (GRCm39)	I203V	probably benign	Het
Lsg1	T	C	16: 30,390,060 (GRCm39)	K352E	probably benign	Het
Med12l	G	T	3: 58,984,510 (GRCm39)	D483Y	probably damaging	Het
Mlh1	A	G	9: 111,058,943 (GRCm39)	Y694H	probably benign	Het
Mmrn1	A	G	6: 60,935,160 (GRCm39)	R219G	possibly damaging	Het
Nsd1	T	C	13: 55,450,646 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,555 (GRCm39)	M136L	possibly damaging	Het
Or8k33	C	T	2: 86,384,224 (GRCm39)	M81I	possibly damaging	Het
Pax3	A	T	1: 78,098,424 (GRCm39)	S322T	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Plekhb2	T	C	1: 34,916,022 (GRCm39)	V187A	possibly damaging	Het
Pot1a	A	T	6: 25,794,592 (GRCm39)	F31I	probably damaging	Het
Rpap1	A	T	2: 119,613,720 (GRCm39)		probably benign	Het
Scmh1	T	A	4: 120,385,343 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,560,522 (GRCm39)	T1251A	probably damaging	Het
Siglecf	T	C	7: 43,001,634 (GRCm39)	V148A	probably benign	Het
Slit3	A	G	11: 35,598,969 (GRCm39)	*1524W	probably null	Het
Son	C	A	16: 91,455,359 (GRCm39)	P1369T	possibly damaging	Het
Spp2	T	A	1: 88,338,868 (GRCm39)	L25*	probably null	Het
Sptbn4	T	C	7: 27,090,976 (GRCm39)	Q1405R	probably damaging	Het
Traf3ip2	G	T	10: 39,522,902 (GRCm39)	A463S	possibly damaging	Het
Trappc11	T	C	8: 47,960,617 (GRCm39)	E27G	probably damaging	Het
Vmn2r12	C	T	5: 109,233,858 (GRCm39)	V785I	probably damaging	Het
Zc3h8	A	G	2: 128,785,846 (GRCm39)		probably benign	Het
Zfp57	T	A	17: 37,317,056 (GRCm39)	S45T	probably damaging	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
IGL02528:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02529: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