Mutagenetix > Incidental Mutation

Incidental Mutation 'R0646:Man2a2'

57157

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

038831-MU

Accession Numbers

Essential gene?

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

Stock #

R0646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80363197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 540 (H540R)

Ref Sequence

ENSEMBL: ENSMUSP00000145861 (fasta)

Gene Model

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

AlphaFold

Q8BRK9

Predicted Effect

probably benign
Transcript: ENSMUST00000098346
AA Change: T573A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: T573A

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: H25R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206066

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206301
AA Change: H540R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000206807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206973

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (123/130)

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: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	C	T	7: 29,561,285 (GRCm38)		noncoding transcript	Het
A430078G23Rik	T	C	8: 3,386,959 (GRCm38)	Y250H	probably damaging	Het
Abcb11	A	G	2: 69,285,283 (GRCm38)	I579T	probably damaging	Het
Abcc9	T	C	6: 142,682,104 (GRCm38)	N400S	probably benign	Het
Adarb2	T	C	13: 8,731,819 (GRCm38)	L577P	probably damaging	Het
Agt	A	C	8: 124,557,113 (GRCm38)	N422K	probably damaging	Het
Ahnak	A	T	19: 9,013,402 (GRCm38)	K4017*	probably null	Het
Akap13	C	A	7: 75,747,746 (GRCm38)	Q2575K	probably damaging	Het
Aldh3a2	A	T	11: 61,253,715 (GRCm38)	I339K	probably damaging	Het
Alox15	G	T	11: 70,345,624 (GRCm38)	Y483*	probably null	Het
Ampd1	A	T	3: 103,099,597 (GRCm38)	I713F	probably damaging	Het
Amph	A	T	13: 19,113,116 (GRCm38)	E344V	possibly damaging	Het
Arid5b	A	G	10: 68,096,977 (GRCm38)	S1032P	probably damaging	Het
Armc8	C	A	9: 99,505,688 (GRCm38)	L393F	probably damaging	Het
Bpnt1	A	G	1: 185,345,426 (GRCm38)		probably null	Het
Cachd1	G	A	4: 100,988,221 (GRCm38)	R970H	probably damaging	Het
Cd207	T	C	6: 83,675,756 (GRCm38)	T131A	probably benign	Het
Cd83	G	A	13: 43,797,533 (GRCm38)	V54I	probably benign	Het
Cfap43	T	C	19: 47,763,676 (GRCm38)	K1086E	probably benign	Het
Cfap65	A	T	1: 74,902,169 (GRCm38)	V1837E	probably benign	Het
Clcnka	T	A	4: 141,396,606 (GRCm38)	H89L	probably benign	Het
Cnga4	T	C	7: 105,404,975 (GRCm38)	I50T	possibly damaging	Het
Cog5	A	G	12: 31,837,359 (GRCm38)		probably benign	Het
Col11a2	T	A	17: 34,059,348 (GRCm38)		probably null	Het
Col28a1	T	G	6: 8,175,291 (GRCm38)	I186L	possibly damaging	Het
Col4a2	T	A	8: 11,431,252 (GRCm38)	M808K	probably benign	Het
Copb2	A	G	9: 98,563,475 (GRCm38)		probably benign	Het
Dbnl	G	A	11: 5,795,441 (GRCm38)		probably benign	Het
Dbx2	T	C	15: 95,654,612 (GRCm38)	T51A	possibly damaging	Het
Dcp1a	A	T	14: 30,502,885 (GRCm38)	M123L	probably damaging	Het
Ddx42	T	A	11: 106,232,833 (GRCm38)	F217I	probably benign	Het
Dlc1	T	C	8: 36,858,051 (GRCm38)	T367A	probably benign	Het
Dmgdh	A	T	13: 93,752,355 (GRCm38)	T834S	probably benign	Het
Dnah8	T	C	17: 30,684,173 (GRCm38)	S929P	probably damaging	Het
Dnase1l2	C	A	17: 24,441,082 (GRCm38)	V271L	possibly damaging	Het
Dsc1	T	C	18: 20,096,057 (GRCm38)	Y392C	probably damaging	Het
Edn1	T	C	13: 42,305,242 (GRCm38)		probably benign	Het
Eps8l3	T	C	3: 107,884,810 (GRCm38)	L351P	probably damaging	Het
F12	G	A	13: 55,422,483 (GRCm38)		probably benign	Het
Fam47e	T	C	5: 92,578,458 (GRCm38)		probably benign	Het
Fcrl5	C	A	3: 87,442,013 (GRCm38)	Q32K	probably benign	Het
Fndc1	C	T	17: 7,741,673 (GRCm38)	V1637I	possibly damaging	Het
Foxg1	G	T	12: 49,384,567 (GRCm38)		probably benign	Het
Frrs1	A	T	3: 116,902,421 (GRCm38)	I530F	possibly damaging	Het
Galnt5	A	T	2: 57,999,085 (GRCm38)	K232N	probably benign	Het
Ggt5	G	A	10: 75,602,648 (GRCm38)	V68M	probably damaging	Het
Gm11639	G	A	11: 104,720,501 (GRCm38)	D390N	probably benign	Het
Gm16519	T	C	17: 70,929,106 (GRCm38)	C17R	probably benign	Het
Gm17535	A	G	9: 3,035,804 (GRCm38)	Y224C	probably null	Het
Gm9631	T	G	11: 121,945,629 (GRCm38)	D28A	probably damaging	Het
Gpx2	T	C	12: 76,795,313 (GRCm38)	I21M	probably benign	Het
H2-Q2	T	G	17: 35,345,685 (GRCm38)	D354E	probably damaging	Het
Icam2	A	T	11: 106,380,891 (GRCm38)	I71K	probably damaging	Het
Il12a	T	C	3: 68,697,890 (GRCm38)		probably benign	Het
Insm2	C	G	12: 55,600,440 (GRCm38)	A323G	probably benign	Het
Itga1	T	C	13: 114,968,299 (GRCm38)	T1064A	probably benign	Het
Itgad	T	A	7: 128,174,004 (GRCm38)	V11E	possibly damaging	Het
Kctd15	C	T	7: 34,644,881 (GRCm38)	S115N	probably damaging	Het
Klra5	A	G	6: 129,903,564 (GRCm38)	W124R	probably damaging	Het
Kng2	T	A	16: 22,987,736 (GRCm38)	D571V	probably benign	Het
Kpna6	A	T	4: 129,650,790 (GRCm38)	F380I	probably benign	Het
Lipo1	A	T	19: 33,784,769 (GRCm38)	Y109*	probably null	Het
Lrrc37	T	A	11: 103,613,160 (GRCm38)	K485*	probably null	Het
Map2k4	T	C	11: 65,712,275 (GRCm38)	E188G	probably damaging	Het
Mast4	T	C	13: 102,758,744 (GRCm38)		probably benign	Het
Mbtd1	A	G	11: 93,905,212 (GRCm38)	D25G	probably damaging	Het
Med13	T	A	11: 86,331,089 (GRCm38)	Q238L	possibly damaging	Het
Mmachc	A	G	4: 116,703,654 (GRCm38)	Y215H	probably damaging	Het
Mtor	T	A	4: 148,484,354 (GRCm38)	Y1110*	probably null	Het
Nek2	A	G	1: 191,822,219 (GRCm38)	N57D	probably damaging	Het
Nek7	ACCCC	ACCC	1: 138,515,693 (GRCm38)		probably null	Het
Neo1	G	T	9: 58,931,034 (GRCm38)	T489K	probably damaging	Het
Neu1	T	A	17: 34,934,760 (GRCm38)	Y387N	probably damaging	Het
Nfasc	A	T	1: 132,608,438 (GRCm38)	C586*	probably null	Het
Nle1	G	A	11: 82,904,845 (GRCm38)	L259F	probably damaging	Het
Nrde2	G	A	12: 100,143,846 (GRCm38)	Q309*	probably null	Het
Nufip2	C	T	11: 77,686,453 (GRCm38)	H76Y	probably benign	Het
Or10ak16	A	C	4: 118,893,490 (GRCm38)	T136P	probably damaging	Het
Or2y13	A	T	11: 49,524,578 (GRCm38)	N285I	probably damaging	Het
Or4k6	A	T	14: 50,238,639 (GRCm38)	I82N	probably damaging	Het
Or52e18	A	T	7: 104,959,811 (GRCm38)	I307N	probably benign	Het
Or52r1c	T	C	7: 103,086,151 (GRCm38)	F206S	probably damaging	Het
Or9s18	A	T	13: 65,153,063 (GRCm38)	I280F	probably damaging	Het
Pcdhb5	A	G	18: 37,321,622 (GRCm38)	T352A	probably benign	Het
Pcdhb7	A	T	18: 37,343,389 (GRCm38)	D526V	probably damaging	Het
Phkg1	A	T	5: 129,864,553 (GRCm38)		probably null	Het
Plg	C	T	17: 12,418,736 (GRCm38)	T744M	probably damaging	Het
Plxnd1	A	C	6: 115,958,699 (GRCm38)		probably benign	Het
Poglut1	A	T	16: 38,529,475 (GRCm38)	I312N	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799 (GRCm38)		probably benign	Het
Ppt1	A	G	4: 122,844,099 (GRCm38)	M77V	probably benign	Het
Pramel26	A	C	4: 143,812,585 (GRCm38)	S113A	possibly damaging	Het
Pramel5	G	T	4: 144,271,620 (GRCm38)	T351N	probably damaging	Het
Psmb4	G	A	3: 94,884,964 (GRCm38)	R216C	probably benign	Het
Ptprd	T	C	4: 76,084,403 (GRCm38)	T699A	probably damaging	Het
Retreg3	A	T	11: 101,098,629 (GRCm38)		probably benign	Het
Sanbr	C	T	11: 23,575,491 (GRCm38)	R716H	probably damaging	Het
Scaper	G	A	9: 55,758,056 (GRCm38)	A389V	probably damaging	Het
Serinc5	G	A	13: 92,688,737 (GRCm38)	D225N	possibly damaging	Het
Slco1a1	T	G	6: 141,925,754 (GRCm38)		probably benign	Het
Snapc1	C	T	12: 73,975,032 (GRCm38)	R81C	probably damaging	Het
Sod3	A	T	5: 52,368,079 (GRCm38)	D40V	probably benign	Het
Sorcs3	C	A	19: 48,206,295 (GRCm38)	A39E	probably benign	Het
Spon1	A	T	7: 114,039,821 (GRCm38)	T761S	probably benign	Het
Syde2	A	G	3: 146,014,249 (GRCm38)		probably null	Het
Synm	T	A	7: 67,759,168 (GRCm38)	D154V	probably benign	Het
Synpo2	T	C	3: 123,114,449 (GRCm38)	E406G	probably damaging	Het
Tcea3	T	A	4: 136,248,071 (GRCm38)	L8*	probably null	Het
Tec	G	A	5: 72,823,497 (GRCm38)	L33F	probably damaging	Het
Tex15	T	A	8: 33,582,326 (GRCm38)	S2634T	possibly damaging	Het
Tg	T	A	15: 66,729,626 (GRCm38)	Y162N	probably damaging	Het
Tmem8b	G	A	4: 43,690,123 (GRCm38)	V853I	probably benign	Het
Togaram1	A	G	12: 65,021,466 (GRCm38)	K1748E	probably damaging	Het
Ttn	T	C	2: 76,898,478 (GRCm38)		probably benign	Het
Usp36	C	T	11: 118,273,021 (GRCm38)	D234N	probably damaging	Het
Usp40	G	A	1: 87,978,522 (GRCm38)	P664S	probably benign	Het
Vmn1r54	T	A	6: 90,269,653 (GRCm38)	L183H	probably benign	Het
Vmn1r58	T	G	7: 5,410,677 (GRCm38)	I185L	probably benign	Het
Wnt8a	A	T	18: 34,547,565 (GRCm38)	R328W	probably benign	Het
Yars1	A	G	4: 129,213,939 (GRCm38)		probably benign	Het
Zbtb49	A	C	5: 38,200,674 (GRCm38)	M745R	probably damaging	Het
Zeb1	T	G	18: 5,759,027 (GRCm38)	F162V	probably damaging	Het
Zfp369	A	T	13: 65,297,548 (GRCm38)	H835L	probably damaging	Het
Zic5	A	G	14: 122,463,939 (GRCm38)	V460A	unknown	Het
Zp3	A	G	5: 135,984,356 (GRCm38)	N181D	possibly damaging	Het

Other mutations in Man2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Man2a2	APN	7	80,361,132 (GRCm38)	missense	possibly damaging	0.94
IGL01405:Man2a2	APN	7	80,360,934 (GRCm38)	missense	probably benign	0.00
IGL01717:Man2a2	APN	7	80,367,365 (GRCm38)	missense	probably damaging	1.00
IGL01843:Man2a2	APN	7	80,362,906 (GRCm38)	missense	probably benign
IGL02212:Man2a2	APN	7	80,362,308 (GRCm38)	missense	probably benign	0.00
IGL02383:Man2a2	APN	7	80,359,640 (GRCm38)	missense	probably damaging	0.99
IGL02434:Man2a2	APN	7	80,359,640 (GRCm38)	missense	probably damaging	0.99
IGL02493:Man2a2	APN	7	80,369,615 (GRCm38)	missense	possibly damaging	0.68
IGL02528:Man2a2	APN	7	80,359,640 (GRCm38)	missense	probably damaging	0.99
IGL02529:Man2a2	APN	7	80,359,640 (GRCm38)	missense	probably damaging	0.99
IGL02530:Man2a2	APN	7	80,359,640 (GRCm38)	missense	probably damaging	0.99
IGL02534:Man2a2	APN	7	80,359,640 (GRCm38)	missense	probably damaging	0.99
IGL02869:Man2a2	APN	7	80,363,941 (GRCm38)	missense	probably benign	0.00
IGL03084:Man2a2	APN	7	80,352,943 (GRCm38)	missense	possibly damaging	0.88
IGL03088:Man2a2	APN	7	80,359,334 (GRCm38)	missense	possibly damaging	0.91
IGL03377:Man2a2	APN	7	80,359,052 (GRCm38)	splice site	probably null
IGL03412:Man2a2	APN	7	80,366,998 (GRCm38)	missense	probably damaging	1.00
dugong	UTSW	7	80,360,921 (GRCm38)	missense	probably benign	0.12
R2090_Man2a2_705	UTSW	7	80,364,110 (GRCm38)	unclassified	probably benign
R7828_Man2a2_437	UTSW	7	80,366,926 (GRCm38)	missense	probably damaging	0.98
R0112:Man2a2	UTSW	7	80,358,276 (GRCm38)	missense	probably damaging	0.99
R0119:Man2a2	UTSW	7	80,367,405 (GRCm38)	missense	probably damaging	1.00
R1184:Man2a2	UTSW	7	80,362,965 (GRCm38)	missense	possibly damaging	0.79
R1445:Man2a2	UTSW	7	80,368,562 (GRCm38)	missense	probably benign	0.06
R1626:Man2a2	UTSW	7	80,367,702 (GRCm38)	missense	probably damaging	1.00
R1739:Man2a2	UTSW	7	80,362,438 (GRCm38)	missense	probably benign	0.10
R1820:Man2a2	UTSW	7	80,358,933 (GRCm38)	missense	probably benign	0.22
R2090:Man2a2	UTSW	7	80,364,110 (GRCm38)	unclassified	probably benign
R2144:Man2a2	UTSW	7	80,363,516 (GRCm38)	missense	probably damaging	1.00
R2150:Man2a2	UTSW	7	80,367,784 (GRCm38)	missense	probably damaging	1.00
R3882:Man2a2	UTSW	7	80,362,315 (GRCm38)	missense	possibly damaging	0.70
R4181:Man2a2	UTSW	7	80,351,739 (GRCm38)	missense	possibly damaging	0.79
R4285:Man2a2	UTSW	7	80,368,619 (GRCm38)	missense	probably damaging	1.00
R4302:Man2a2	UTSW	7	80,351,739 (GRCm38)	missense	possibly damaging	0.79
R4440:Man2a2	UTSW	7	80,351,715 (GRCm38)	missense	probably benign	0.37
R4494:Man2a2	UTSW	7	80,359,275 (GRCm38)	splice site	probably null
R4564:Man2a2	UTSW	7	80,368,838 (GRCm38)	missense	probably benign	0.00
R4631:Man2a2	UTSW	7	80,362,463 (GRCm38)	missense	probably benign	0.10
R5328:Man2a2	UTSW	7	80,368,756 (GRCm38)	missense	probably benign	0.06
R5329:Man2a2	UTSW	7	80,361,128 (GRCm38)	missense	possibly damaging	0.82
R5468:Man2a2	UTSW	7	80,352,981 (GRCm38)	missense	probably damaging	0.98
R5774:Man2a2	UTSW	7	80,368,358 (GRCm38)	missense	probably damaging	1.00
R5824:Man2a2	UTSW	7	80,353,032 (GRCm38)	missense	probably benign	0.00
R5915:Man2a2	UTSW	7	80,360,921 (GRCm38)	missense	probably benign	0.12
R5937:Man2a2	UTSW	7	80,363,503 (GRCm38)	missense	probably damaging	1.00
R6101:Man2a2	UTSW	7	80,367,001 (GRCm38)	missense	probably damaging	1.00
R6105:Man2a2	UTSW	7	80,367,001 (GRCm38)	missense	probably damaging	1.00
R6481:Man2a2	UTSW	7	80,364,071 (GRCm38)	missense	probably damaging	0.99
R6592:Man2a2	UTSW	7	80,353,199 (GRCm38)	missense	probably damaging	0.98
R6869:Man2a2	UTSW	7	80,362,945 (GRCm38)	missense	probably benign	0.35
R6918:Man2a2	UTSW	7	80,353,192 (GRCm38)	missense	possibly damaging	0.91
R7137:Man2a2	UTSW	7	80,359,751 (GRCm38)	missense	probably benign	0.19
R7236:Man2a2	UTSW	7	80,368,905 (GRCm38)	missense	probably damaging	1.00
R7496:Man2a2	UTSW	7	80,352,997 (GRCm38)	missense	probably damaging	1.00
R7522:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7523:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7524:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7583:Man2a2	UTSW	7	80,366,944 (GRCm38)	missense	probably damaging	1.00
R7681:Man2a2	UTSW	7	80,351,749 (GRCm38)	missense	possibly damaging	0.49
R7828:Man2a2	UTSW	7	80,366,926 (GRCm38)	missense	probably damaging	0.98
R7843:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7845:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7847:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7848:Man2a2	UTSW	7	80,368,865 (GRCm38)	missense	probably benign	0.00
R7984:Man2a2	UTSW	7	80,353,308 (GRCm38)	missense	probably damaging	0.99
R8194:Man2a2	UTSW	7	80,361,018 (GRCm38)	missense	probably benign
R8296:Man2a2	UTSW	7	80,368,908 (GRCm38)	missense	probably damaging	0.99
R8376:Man2a2	UTSW	7	80,360,923 (GRCm38)	nonsense	probably null
R8515:Man2a2	UTSW	7	80,368,290 (GRCm38)	missense	possibly damaging	0.88
R8842:Man2a2	UTSW	7	80,353,319 (GRCm38)	missense	probably damaging	1.00
R9205:Man2a2	UTSW	7	80,361,120 (GRCm38)	missense	probably benign
R9563:Man2a2	UTSW	7	80,356,353 (GRCm38)	missense	probably benign
X0057:Man2a2	UTSW	7	80,362,324 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGATAACCTGCTTGAGGCTGACC -3'
(R):5'- CCTTTCTACAAGAGCTTGGACCGC -3'

Sequencing Primer
(F):5'- CTTGAGGCTGACCAGGGAAC -3'
(R):5'- AGAGGACCCCTTCAGTGTG -3'

Posted On

2013-07-11