Mutagenetix > Incidental Mutations

Incidental Mutation 'R2150:Man2a2'

234192

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

040153-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80367784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 250 (W250R)

Ref Sequence

ENSEMBL: ENSMUSP00000145861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000205436] [ENSMUST00000206212] [ENSMUST00000206301]

AlphaFold

Q8BRK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098346
AA Change: W250R

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

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: W250R

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

probably benign
Transcript: ENSMUST00000205436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205535

Predicted Effect

probably benign
Transcript: ENSMUST00000205853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206066

Predicted Effect

probably benign
Transcript: ENSMUST00000206212

Predicted Effect

probably damaging
Transcript: ENSMUST00000206301
AA Change: W250R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206917

Meta Mutation Damage Score

0.9746

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	T	8: 87,586,063	Q159*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adam34	A	G	8: 43,652,501	Y36H	probably benign	Het
Adprm	A	G	11: 67,038,229	V312A	probably benign	Het
Anapc2	T	C	2: 25,272,670	L52P	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Apoc4	T	A	7: 19,678,635	T62S	probably damaging	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap32	A	G	9: 32,116,140	E2G	possibly damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc63	C	G	5: 122,127,565	A71P	possibly damaging	Het
Cdca2	T	C	14: 67,714,809	K38E	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dab2	T	C	15: 6,416,917	V5A	probably benign	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Disp1	A	G	1: 183,088,372	F828S	probably damaging	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Dsel	A	T	1: 111,860,257	N849K	probably benign	Het
Fah	A	T	7: 84,594,834	I239N	probably damaging	Het
Flt4	T	C	11: 49,645,997	Y1265H	probably benign	Het
Ghdc	T	C	11: 100,769,192	E243G	probably benign	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm6619	A	G	6: 131,489,058	I40V	probably benign	Het
Gpld1	T	C	13: 24,962,647	V225A	probably benign	Het
Hectd4	T	C	5: 121,253,858		probably benign	Het
Igdcc4	A	G	9: 65,125,335	I542V	possibly damaging	Het
Igsf9b	T	C	9: 27,334,337	L1200P	probably damaging	Het
Itgb7	C	T	15: 102,222,118	V378M	probably damaging	Het
Krt84	T	C	15: 101,529,584	E312G	possibly damaging	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mfrp	T	C	9: 44,103,718	L314P	probably benign	Het
Mgat5	T	C	1: 127,469,250	V578A	probably damaging	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh1	A	C	11: 67,222,408	D1873A	probably benign	Het
Nek9	A	G	12: 85,329,903	W235R	probably damaging	Het
Olfr1013	T	C	2: 85,769,998	S66P	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pecr	T	C	1: 72,277,358	R63G	possibly damaging	Het
Pkhd1l1	T	G	15: 44,499,982		probably null	Het
Plekha5	T	C	6: 140,570,403	V270A	probably damaging	Het
Prr14l	T	C	5: 32,830,702	D483G	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Senp1	C	T	15: 98,058,315	V408I	possibly damaging	Het
Stambpl1	T	A	19: 34,226,704	Y65N	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Themis	T	A	10: 28,668,727	I23N	probably damaging	Het
Thnsl1	T	C	2: 21,212,533	I366T	probably benign	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem178b	A	T	6: 40,207,501	Q111L	probably damaging	Het
Vmn1r195	C	G	13: 22,278,764	L135V	possibly damaging	Het
Vmn2r-ps36	C	T	7: 7,428,540		noncoding transcript	Het
Zfp956	G	A	6: 47,963,871	R388H	probably damaging	Het
Zfr2	T	G	10: 81,242,116	V259G	probably benign	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
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
R5937:Man2a2	UTSW	7	80363503	missense	probably damaging	1.00
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'- CCATCAGATAGGCTGCATGAG -3'
(R):5'- GGGGTCCTGAAATAACCAACC -3'

Sequencing Primer
(F):5'- GCTGCATGAGCCTAGAAAGG -3'
(R):5'- ACCAAGACAGGGCCTTGC -3'

Posted On

2014-10-01