Mutagenetix > Incidental Mutations

Incidental Mutation 'R5937:Man2a2'

462323

Institutional Source

Beutler Lab

Gene Symbol

Man2a2

Ensembl Gene

ENSMUSG00000038886

Gene Name

mannosidase 2, alpha 2

Synonyms

alpha mannosidase IIx, 1700052O22Rik, MX, 4931438M07Rik

MMRRC Submission

043242-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80363503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 514 (Y514C)

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: Y514C

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

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: Y514C

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 damaging
Transcript: ENSMUST00000206301
AA Change: Y514C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000206807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206973

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,919,646	W314R	probably benign	Het
Adgrv1	A	T	13: 81,107,075	V6143E	probably damaging	Het
Agap3	C	T	5: 24,477,817	T261I	probably damaging	Het
Ano6	T	C	15: 95,913,957	I241T	probably damaging	Het
Arhgef28	T	C	13: 97,939,543	T1328A	probably benign	Het
Capn10	C	T	1: 92,939,383	R112W	probably damaging	Het
Car5a	A	T	8: 121,939,821	W46R	probably damaging	Het
Cntn6	C	A	6: 104,833,103	T582K	possibly damaging	Het
Ctsh	T	C	9: 90,061,456	V60A	probably benign	Het
Ctsll3	A	G	13: 60,799,596	F259L	probably damaging	Het
Fam228a	T	C	12: 4,737,725	E16G	probably damaging	Het
G3bp2	A	G	5: 92,055,397	I388T	probably damaging	Het
Galnt5	A	T	2: 58,038,937	K926N	probably benign	Het
Gm10097	G	A	10: 5,069,485		probably benign	Het
Gm9978	T	A	10: 78,486,841		noncoding transcript	Het
Gria1	A	G	11: 57,189,733	T112A	probably benign	Het
Hnrnpk	A	C	13: 58,395,202	V134G	probably damaging	Het
Insr	A	G	8: 3,174,808	V220A	probably benign	Het
Lhx4	A	G	1: 155,710,277	I96T	probably damaging	Het
Lrp1	T	C	10: 127,583,876	T955A	possibly damaging	Het
Lrtm1	T	C	14: 29,021,830	V85A	possibly damaging	Het
Npas1	T	A	7: 16,463,262	D226V	probably benign	Het
Nrcam	G	A	12: 44,572,291	V858I	probably benign	Het
Olfr1462	T	A	19: 13,191,311	S215T	probably damaging	Het
Olfr293	G	T	7: 86,664,476	L271F	probably benign	Het
Pde6b	G	T	5: 108,424,327	A478S	probably benign	Het
Pex1	T	A	5: 3,624,487	N789K	possibly damaging	Het
Plekha6	A	G	1: 133,260,101	D120G	possibly damaging	Het
Pomgnt1	A	G	4: 116,153,913	T220A	probably benign	Het
Sdr39u1	A	T	14: 55,897,907	I193K	probably damaging	Het
Sec61a2	C	A	2: 5,886,557	M54I	probably benign	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sra1	C	T	18: 36,671,599		probably null	Het
St5	A	T	7: 109,557,271	C91S	possibly damaging	Het
Taf5	C	T	19: 47,081,895	S640L	probably damaging	Het
Tas2r140	T	A	6: 133,055,273	H174L	probably benign	Het
Tmem63a	T	A	1: 180,961,151	V351D	probably damaging	Het
Ttll7	C	T	3: 146,944,092	Q626*	probably null	Het
Ubn2	T	A	6: 38,463,982	V263E	possibly damaging	Het
Vmn2r106	C	T	17: 20,285,405	W9*	probably null	Het
Xrcc3	C	G	12: 111,807,972	C141S	probably null	Het
Zfp516	T	A	18: 82,956,833	D385E	probably damaging	Het

Other mutations in Man2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Man2a2	APN	7	80361132	missense	possibly damaging	0.94
IGL01405:Man2a2	APN	7	80360934	missense	probably benign	0.00
IGL01717:Man2a2	APN	7	80367365	missense	probably damaging	1.00
IGL01843:Man2a2	APN	7	80362906	missense	probably benign
IGL02212:Man2a2	APN	7	80362308	missense	probably benign	0.00
IGL02383:Man2a2	APN	7	80359640	missense	probably damaging	0.99
IGL02434:Man2a2	APN	7	80359640	missense	probably damaging	0.99
IGL02493:Man2a2	APN	7	80369615	missense	possibly damaging	0.68
IGL02528:Man2a2	APN	7	80359640	missense	probably damaging	0.99
IGL02529:Man2a2	APN	7	80359640	missense	probably damaging	0.99
IGL02530:Man2a2	APN	7	80359640	missense	probably damaging	0.99
IGL02534:Man2a2	APN	7	80359640	missense	probably damaging	0.99
IGL02869:Man2a2	APN	7	80363941	missense	probably benign	0.00
IGL03084:Man2a2	APN	7	80352943	missense	possibly damaging	0.88
IGL03088:Man2a2	APN	7	80359334	missense	possibly damaging	0.91
IGL03377:Man2a2	APN	7	80359052	splice site	probably null
IGL03412:Man2a2	APN	7	80366998	missense	probably damaging	1.00
dugong	UTSW	7	80360921	missense	probably benign	0.12
R2090_Man2a2_705	UTSW	7	80364110	unclassified	probably benign
R7828_Man2a2_437	UTSW	7	80366926	missense	probably damaging	0.98
R0112:Man2a2	UTSW	7	80358276	missense	probably damaging	0.99
R0119:Man2a2	UTSW	7	80367405	missense	probably damaging	1.00
R0646:Man2a2	UTSW	7	80363197	missense	possibly damaging	0.53
R1184:Man2a2	UTSW	7	80362965	missense	possibly damaging	0.79
R1445:Man2a2	UTSW	7	80368562	missense	probably benign	0.06
R1626:Man2a2	UTSW	7	80367702	missense	probably damaging	1.00
R1739:Man2a2	UTSW	7	80362438	missense	probably benign	0.10
R1820:Man2a2	UTSW	7	80358933	missense	probably benign	0.22
R2090:Man2a2	UTSW	7	80364110	unclassified	probably benign
R2144:Man2a2	UTSW	7	80363516	missense	probably damaging	1.00
R2150:Man2a2	UTSW	7	80367784	missense	probably damaging	1.00
R3882:Man2a2	UTSW	7	80362315	missense	possibly damaging	0.70
R4181:Man2a2	UTSW	7	80351739	missense	possibly damaging	0.79
R4285:Man2a2	UTSW	7	80368619	missense	probably damaging	1.00
R4302:Man2a2	UTSW	7	80351739	missense	possibly damaging	0.79
R4440:Man2a2	UTSW	7	80351715	missense	probably benign	0.37
R4494:Man2a2	UTSW	7	80359275	splice site	probably null
R4564:Man2a2	UTSW	7	80368838	missense	probably benign	0.00
R4631:Man2a2	UTSW	7	80362463	missense	probably benign	0.10
R5328:Man2a2	UTSW	7	80368756	missense	probably benign	0.06
R5329:Man2a2	UTSW	7	80361128	missense	possibly damaging	0.82
R5468:Man2a2	UTSW	7	80352981	missense	probably damaging	0.98
R5774:Man2a2	UTSW	7	80368358	missense	probably damaging	1.00
R5824:Man2a2	UTSW	7	80353032	missense	probably benign	0.00
R5915:Man2a2	UTSW	7	80360921	missense	probably benign	0.12
R6101:Man2a2	UTSW	7	80367001	missense	probably damaging	1.00
R6105:Man2a2	UTSW	7	80367001	missense	probably damaging	1.00
R6481:Man2a2	UTSW	7	80364071	missense	probably damaging	0.99
R6592:Man2a2	UTSW	7	80353199	missense	probably damaging	0.98
R6869:Man2a2	UTSW	7	80362945	missense	probably benign	0.35
R6918:Man2a2	UTSW	7	80353192	missense	possibly damaging	0.91
R7137:Man2a2	UTSW	7	80359751	missense	probably benign	0.19
R7236:Man2a2	UTSW	7	80368905	missense	probably damaging	1.00
R7496:Man2a2	UTSW	7	80352997	missense	probably damaging	1.00
R7522:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7523:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7524:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7583:Man2a2	UTSW	7	80366944	missense	probably damaging	1.00
R7681:Man2a2	UTSW	7	80351749	missense	possibly damaging	0.49
R7828:Man2a2	UTSW	7	80366926	missense	probably damaging	0.98
R7843:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7845:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7847:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7848:Man2a2	UTSW	7	80368865	missense	probably benign	0.00
R7984:Man2a2	UTSW	7	80353308	missense	probably damaging	0.99
R8194:Man2a2	UTSW	7	80361018	missense	probably benign
R8296:Man2a2	UTSW	7	80368908	missense	probably damaging	0.99
R8376:Man2a2	UTSW	7	80360923	nonsense	probably null
R8515:Man2a2	UTSW	7	80368290	missense	possibly damaging	0.88
R8842:Man2a2	UTSW	7	80353319	missense	probably damaging	1.00
R9205:Man2a2	UTSW	7	80361120	missense	probably benign
X0057:Man2a2	UTSW	7	80362324	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATAGAATCTCTGCCCCACTACC -3'
(R):5'- CAGTGTTCCCAGGAAGTTCTG -3'

Sequencing Primer
(F):5'- CCAGAGAAAGAAGTCAGAGCCTTTC -3'
(R):5'- CCCAGGAAGTTCTGTAATTGATG -3'

Posted On

2017-02-28