Mutagenetix > Incidental Mutations

Incidental Mutation 'R1184:Man2a2'

101919

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

039256-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80362965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 600 (I600N)

Ref Sequence

ENSEMBL: ENSMUSP00000095949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000206301] [ENSMUST00000206807]

AlphaFold

Q8BRK9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098346
AA Change: I600N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I600N

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

unknown
Transcript: ENSMUST00000205853
AA Change: H52Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206066

Predicted Effect

probably benign
Transcript: ENSMUST00000206301
AA Change: H567Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000206807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206973

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,160,912	R7G	probably damaging	Het
2410089E03Rik	G	T	15: 8,216,487	V1448L	probably benign	Het
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alkal1	A	G	1: 6,389,488	Y96C	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,561,468	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,687,745		probably null	Het
Cars	T	C	7: 143,587,139	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,873,811		probably benign	Het
Cenpe	T	C	3: 135,264,422		probably null	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chd6	G	C	2: 161,030,802	P286R	probably damaging	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Coq4	G	A	2: 29,788,334		probably benign	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Dcun1d4	T	C	5: 73,511,112		probably benign	Het
Depdc7	A	T	2: 104,730,178		probably benign	Het
Dna2	A	G	10: 62,959,198	D416G	probably benign	Het
Dnah2	A	T	11: 69,499,190	I743N	probably damaging	Het
Dnah9	A	G	11: 66,084,612		probably null	Het
Dock3	A	G	9: 106,969,800	S877P	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Epha5	A	T	5: 84,071,275		probably null	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fyb	A	T	15: 6,638,900	I525F	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gcdh	T	C	8: 84,893,442		probably benign	Het
Gk5	T	C	9: 96,150,420		probably benign	Het
Gm21188	A	T	13: 120,035,131	N67K	probably benign	Het
Gm8979	A	G	7: 106,083,952	V32A	probably benign	Het
Grm1	A	G	10: 10,720,034	Y617H	probably benign	Het
Hhipl2	A	T	1: 183,425,134	I131L	probably damaging	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lrig2	T	A	3: 104,490,911	I301F	possibly damaging	Het
Mylk2	G	C	2: 152,913,741		probably null	Het
Myo6	C	T	9: 80,286,382	Q870*	probably null	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325		probably benign	Het
Olfr1216	A	G	2: 89,013,713	M117T	probably damaging	Het
Olfr1440	T	C	19: 12,394,857	V198A	probably benign	Het
Olfr1462	T	G	19: 13,191,375	L236R	probably damaging	Het
Olfr748	A	C	14: 50,710,614	T95P	probably benign	Het
Pclo	A	G	5: 14,522,262	T554A	unknown	Het
Perm1	C	A	4: 156,217,314	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ptpn12	A	C	5: 20,998,356	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,927,772	V391A	possibly damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sebox	A	T	11: 78,503,849	T47S	probably damaging	Het
Sema4b	A	G	7: 80,224,640	T593A	probably benign	Het
Serpina3a	C	T	12: 104,116,528	Q187*	probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc30a3	T	A	5: 31,090,166	H44L	probably damaging	Het
Smarca2	T	C	19: 26,770,933		probably benign	Het
Snrnp200	T	A	2: 127,236,817	C1801S	probably damaging	Het
Soat1	G	A	1: 156,442,374		probably null	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Tbck	T	A	3: 132,837,972	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,049,696	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Trmt112	C	A	19: 6,910,353		probably benign	Het
Trpc4ap	A	G	2: 155,645,070		probably benign	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ttn	A	T	2: 76,861,432		probably benign	Het
Txndc11	C	T	16: 11,128,500	R149Q	probably benign	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Usp30	G	A	5: 114,103,827		probably null	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vps33b	T	A	7: 80,282,486	D135E	probably benign	Het
Vrk2	A	G	11: 26,483,331		probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,648,326	Y129H	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
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
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'- GGACGAATGAGGACTACGCTCAAC -3'
(R):5'- TCCCTCGCCATGTCAAAGAACG -3'

Sequencing Primer
(F):5'- TTAAGCATGGAACTAGGACCC -3'
(R):5'- CATGTCAAAGAACGGCTGC -3'

Posted On

2014-01-15