Mutagenetix > Incidental Mutation

Incidental Mutation 'R7828:Man2a2'

602437

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

045882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R7828 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80366926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 380 (I380T)

Ref Sequence

ENSEMBL: ENSMUSP00000095949 (fasta)

Gene Model

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

AlphaFold

Q8BRK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098346
AA Change: I380T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I380T

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

probably benign
Transcript: ENSMUST00000205436

Predicted Effect

probably benign
Transcript: ENSMUST00000205853

Predicted Effect

probably benign
Transcript: ENSMUST00000206212

Predicted Effect

probably benign
Transcript: ENSMUST00000206301
AA Change: I380T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.1716

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 86,528,275	T869A	probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arid1b	C	A	17: 5,097,668	P615Q	probably damaging	Het
Asb16	C	A	11: 102,277,927	Q410K	probably benign	Het
Ash2l	T	C	8: 25,823,186	E335G	possibly damaging	Het
AU041133	C	T	10: 82,151,220	H236Y	probably damaging	Het
Bhmt	T	A	13: 93,617,648	Y351F	possibly damaging	Het
Birc6	T	C	17: 74,579,506	S610P	probably damaging	Het
Cab39l	T	C	14: 59,499,710		probably null	Het
Cdc7	A	T	5: 106,972,950	Q146L	possibly damaging	Het
Cdk18	T	C	1: 132,116,904	H328R	possibly damaging	Het
Cdsn	T	C	17: 35,554,981	S136P	unknown	Het
Ces3b	T	A	8: 105,086,596	L203Q	probably damaging	Het
Cgn	A	G	3: 94,769,179	V840A	probably damaging	Het
Ctse	T	C	1: 131,662,753	L71P	probably damaging	Het
Ears2	G	T	7: 122,048,340	S240R	probably benign	Het
Edem3	A	G	1: 151,811,635	I756V	possibly damaging	Het
Epas1	T	C	17: 86,827,699	Y587H	probably benign	Het
Fcamr	G	T	1: 130,811,706	A248S	probably damaging	Het
Gm14496	G	A	2: 181,991,378	W51*	probably null	Het
Hfm1	A	T	5: 106,881,791		probably null	Het
Hhip	T	C	8: 79,998,208	I312V	probably benign	Het
Hmcn2	C	A	2: 31,405,875	N2658K	possibly damaging	Het
Iars	T	A	13: 49,725,272	M948K	probably benign	Het
Il27ra	A	G	8: 84,031,558	L521S	probably damaging	Het
Itpr1	A	G	6: 108,482,931	D2062G	probably damaging	Het
Jag2	G	T	12: 112,913,180	R784S	probably benign	Het
Maea	T	A	5: 33,360,378	D87E	probably benign	Het
Mprip	G	T	11: 59,737,089	G253W	probably damaging	Het
Naglu	G	A	11: 101,076,610	R462H	probably damaging	Het
Nrxn1	T	A	17: 90,059,551	I342F	probably damaging	Het
Olfr1419	A	T	19: 11,870,805	M137K	probably damaging	Het
Olfr1467	G	A	19: 13,365,146	V173I	probably benign	Het
Olfr821	A	G	10: 130,033,887	D87G	probably damaging	Het
Olfr834	T	C	9: 18,988,920	S311P	probably benign	Het
Oosp1	C	A	19: 11,691,005	V5L	probably benign	Het
Pbrm1	T	C	14: 31,030,891	M95T	probably damaging	Het
Pcdh17	C	G	14: 84,532,985	R968G	probably damaging	Het
Pcdhb7	T	G	18: 37,343,862	S684A	probably damaging	Het
Polr1b	T	G	2: 129,105,280	I175R	probably damaging	Het
Ppp3ca	A	G	3: 136,797,774	D36G	probably damaging	Het
Prr14l	G	A	5: 32,844,391		probably benign	Het
Rcn2	A	T	9: 56,052,982	I178F	probably benign	Het
Sbspon	T	G	1: 15,860,319	K148Q	probably damaging	Het
Scn3a	A	T	2: 65,508,574	V587E	probably damaging	Het
Setd7	T	A	3: 51,536,657		probably null	Het
Sh2d5	C	A	4: 138,256,797	P85T	probably benign	Het
Slc12a1	T	A	2: 125,166,682	V204D	possibly damaging	Het
Slc2a8	G	A	2: 32,980,068	R154*	probably null	Het
Slc36a3	C	T	11: 55,151,198	G42S	probably benign	Het
Spink5	A	G	18: 44,010,229	K751R	probably benign	Het
Sult2a5	T	A	7: 13,628,843		probably null	Het
Thoc5	T	C	11: 4,902,306		probably benign	Het
Ttn	A	G	2: 76,975,037	S153P	probably damaging	Het
Ubap2	A	T	4: 41,221,615	L228Q	probably benign	Het
Upk3b	G	A	5: 136,040,139	G121S	possibly damaging	Het
Usp1	T	A	4: 98,932,307	S456R	probably damaging	Het
Usp28	A	T	9: 49,003,902	N126Y	possibly damaging	Het
Wdfy4	C	T	14: 32,988,921	V2411M	possibly damaging	Het
Zfp595	C	T	13: 67,317,705	E165K	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
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
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
R9563:Man2a2	UTSW	7	80356353	missense	probably benign
X0057:Man2a2	UTSW	7	80362324	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTTTGGAGTAAAATGTCAACAC -3'
(R):5'- TGAACCTGCACACCTCTGAC -3'

Sequencing Primer
(F):5'- TGGCAGCAAAGTCCTGTG -3'
(R):5'- TGTGCCCAGCTCCTCAG -3'

Posted On

2019-12-03