Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02534:Man2a2'

297419

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 #

IGL02534

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	C	T	13: 95,506,030 (GRCm39)	E186K	possibly damaging	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Anks1b	A	G	10: 90,730,979 (GRCm39)	I932V	probably benign	Het
Atg2b	A	G	12: 105,609,526 (GRCm39)	Y1361H	probably damaging	Het
Bcl9	G	T	3: 97,122,545 (GRCm39)	L85M	probably damaging	Het
Bcl9l	T	G	9: 44,417,036 (GRCm39)	S291R	probably benign	Het
Cpa2	T	A	6: 30,550,767 (GRCm39)	D201E	probably benign	Het
Efna5	A	T	17: 62,920,384 (GRCm39)	C164*	probably null	Het
Fhip2b	A	T	14: 70,823,128 (GRCm39)	H642Q	probably damaging	Het
Fhip2b	T	A	14: 70,823,630 (GRCm39)	H580L	probably benign	Het
Gm6316	A	G	12: 69,967,763 (GRCm39)		probably benign	Het
Gucy2g	A	G	19: 55,229,500 (GRCm39)	S57P	probably damaging	Het
Inf2	C	A	12: 112,576,930 (GRCm39)	A968E	unknown	Het
Mcm5	T	A	8: 75,840,861 (GRCm39)	V222E	probably damaging	Het
Muc5b	A	G	7: 141,398,456 (GRCm39)	Y287C	unknown	Het
Or12e9	T	G	2: 87,202,598 (GRCm39)	S241A	probably benign	Het
Or13a24	A	T	7: 140,154,554 (GRCm39)	M163L	probably benign	Het
Or14c39	G	A	7: 86,343,939 (GRCm39)	V92M	probably benign	Het
Or8u10	A	G	2: 85,915,713 (GRCm39)	M136T	probably damaging	Het
Pabpc1l	A	G	2: 163,869,410 (GRCm39)	D70G	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Ppp1r17	C	A	6: 56,003,445 (GRCm39)	S86*	probably null	Het
Rasd1	A	G	11: 59,855,615 (GRCm39)	M6T	possibly damaging	Het
Rsph14	C	A	10: 74,793,466 (GRCm39)	V345F	probably damaging	Het
Slc11a2	T	A	15: 100,299,207 (GRCm39)	Q121L	probably benign	Het
Smc5	A	T	19: 23,205,536 (GRCm39)		probably null	Het
Tanc2	T	C	11: 105,725,994 (GRCm39)	L386P	probably damaging	Het
Tmem9b	A	T	7: 109,336,164 (GRCm39)	L160Q	probably damaging	Het
Trim32	A	G	4: 65,532,906 (GRCm39)	T488A	possibly damaging	Het
Tubb1	A	G	2: 174,297,462 (GRCm39)	I24V	probably benign	Het
Upf1	A	T	8: 70,788,302 (GRCm39)		probably null	Het
Zfp263	T	A	16: 3,564,279 (GRCm39)		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
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
IGL02530: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