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

MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik

MMRRC Submission

038831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R0646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79998845-80021123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80012945 bp (GRCm39)

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: 29,260,710 (GRCm39)		noncoding transcript	Het
Abcb11	A	G	2: 69,115,627 (GRCm39)	I579T	probably damaging	Het
Abcc9	T	C	6: 142,627,830 (GRCm39)	N400S	probably benign	Het
Adarb2	T	C	13: 8,781,855 (GRCm39)	L577P	probably damaging	Het
Agt	A	C	8: 125,283,852 (GRCm39)	N422K	probably damaging	Het
Ahnak	A	T	19: 8,990,766 (GRCm39)	K4017*	probably null	Het
Akap13	C	A	7: 75,397,494 (GRCm39)	Q2575K	probably damaging	Het
Aldh3a2	A	T	11: 61,144,541 (GRCm39)	I339K	probably damaging	Het
Alox15	G	T	11: 70,236,450 (GRCm39)	Y483*	probably null	Het
Ampd1	A	T	3: 103,006,913 (GRCm39)	I713F	probably damaging	Het
Amph	A	T	13: 19,297,286 (GRCm39)	E344V	possibly damaging	Het
Arhgef18	T	C	8: 3,436,959 (GRCm39)	Y250H	probably damaging	Het
Arid5b	A	G	10: 67,932,807 (GRCm39)	S1032P	probably damaging	Het
Armc8	C	A	9: 99,387,741 (GRCm39)	L393F	probably damaging	Het
Bpnt1	A	G	1: 185,077,623 (GRCm39)		probably null	Het
Cachd1	G	A	4: 100,845,418 (GRCm39)	R970H	probably damaging	Het
Cd207	T	C	6: 83,652,738 (GRCm39)	T131A	probably benign	Het
Cd83	G	A	13: 43,951,009 (GRCm39)	V54I	probably benign	Het
Cfap43	T	C	19: 47,752,115 (GRCm39)	K1086E	probably benign	Het
Cfap65	A	T	1: 74,941,328 (GRCm39)	V1837E	probably benign	Het
Clcnka	T	A	4: 141,123,917 (GRCm39)	H89L	probably benign	Het
Cnga4	T	C	7: 105,054,182 (GRCm39)	I50T	possibly damaging	Het
Cog5	A	G	12: 31,887,358 (GRCm39)		probably benign	Het
Col11a2	T	A	17: 34,278,322 (GRCm39)		probably null	Het
Col28a1	T	G	6: 8,175,291 (GRCm39)	I186L	possibly damaging	Het
Col4a2	T	A	8: 11,481,252 (GRCm39)	M808K	probably benign	Het
Copb2	A	G	9: 98,445,528 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,745,441 (GRCm39)		probably benign	Het
Dbx2	T	C	15: 95,552,493 (GRCm39)	T51A	possibly damaging	Het
Dcp1a	A	T	14: 30,224,842 (GRCm39)	M123L	probably damaging	Het
Ddx42	T	A	11: 106,123,659 (GRCm39)	F217I	probably benign	Het
Dlc1	T	C	8: 37,325,205 (GRCm39)	T367A	probably benign	Het
Dmgdh	A	T	13: 93,888,863 (GRCm39)	T834S	probably benign	Het
Dnah8	T	C	17: 30,903,147 (GRCm39)	S929P	probably damaging	Het
Dnase1l2	C	A	17: 24,660,056 (GRCm39)	V271L	possibly damaging	Het
Dsc1	T	C	18: 20,229,114 (GRCm39)	Y392C	probably damaging	Het
Edn1	T	C	13: 42,458,718 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,611,327 (GRCm39)	D390N	probably benign	Het
Eps8l3	T	C	3: 107,792,126 (GRCm39)	L351P	probably damaging	Het
F12	G	A	13: 55,570,296 (GRCm39)		probably benign	Het
Fam47e	T	C	5: 92,726,317 (GRCm39)		probably benign	Het
Fcrl5	C	A	3: 87,349,320 (GRCm39)	Q32K	probably benign	Het
Fndc1	C	T	17: 7,960,505 (GRCm39)	V1637I	possibly damaging	Het
Foxg1	G	T	12: 49,431,350 (GRCm39)		probably benign	Het
Frrs1	A	T	3: 116,696,070 (GRCm39)	I530F	possibly damaging	Het
Galnt5	A	T	2: 57,889,097 (GRCm39)	K232N	probably benign	Het
Ggt5	G	A	10: 75,438,482 (GRCm39)	V68M	probably damaging	Het
Gm16519	T	C	17: 71,236,101 (GRCm39)	C17R	probably benign	Het
Gm17535	A	G	9: 3,035,804 (GRCm39)	Y224C	probably null	Het
Gm9631	T	G	11: 121,836,455 (GRCm39)	D28A	probably damaging	Het
Gpx2	T	C	12: 76,842,087 (GRCm39)	I21M	probably benign	Het
H2-Q2	T	G	17: 35,564,661 (GRCm39)	D354E	probably damaging	Het
Icam2	A	T	11: 106,271,717 (GRCm39)	I71K	probably damaging	Het
Il12a	T	C	3: 68,605,223 (GRCm39)		probably benign	Het
Insm2	C	G	12: 55,647,225 (GRCm39)	A323G	probably benign	Het
Itga1	T	C	13: 115,104,835 (GRCm39)	T1064A	probably benign	Het
Itgad	T	A	7: 127,773,176 (GRCm39)	V11E	possibly damaging	Het
Kctd15	C	T	7: 34,344,306 (GRCm39)	S115N	probably damaging	Het
Klra5	A	G	6: 129,880,527 (GRCm39)	W124R	probably damaging	Het
Kng2	T	A	16: 22,806,486 (GRCm39)	D571V	probably benign	Het
Kpna6	A	T	4: 129,544,583 (GRCm39)	F380I	probably benign	Het
Lipo3	A	T	19: 33,762,169 (GRCm39)	Y109*	probably null	Het
Lrrc37	T	A	11: 103,503,986 (GRCm39)	K485*	probably null	Het
Map2k4	T	C	11: 65,603,101 (GRCm39)	E188G	probably damaging	Het
Mast4	T	C	13: 102,895,252 (GRCm39)		probably benign	Het
Mbtd1	A	G	11: 93,796,038 (GRCm39)	D25G	probably damaging	Het
Med13	T	A	11: 86,221,915 (GRCm39)	Q238L	possibly damaging	Het
Mmachc	A	G	4: 116,560,851 (GRCm39)	Y215H	probably damaging	Het
Mtor	T	A	4: 148,568,811 (GRCm39)	Y1110*	probably null	Het
Nek2	A	G	1: 191,554,331 (GRCm39)	N57D	probably damaging	Het
Nek7	ACCCC	ACCC	1: 138,443,431 (GRCm39)		probably null	Het
Neo1	G	T	9: 58,838,317 (GRCm39)	T489K	probably damaging	Het
Neu1	T	A	17: 35,153,736 (GRCm39)	Y387N	probably damaging	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nle1	G	A	11: 82,795,671 (GRCm39)	L259F	probably damaging	Het
Nrde2	G	A	12: 100,110,105 (GRCm39)	Q309*	probably null	Het
Nufip2	C	T	11: 77,577,279 (GRCm39)	H76Y	probably benign	Het
Or10ak16	A	C	4: 118,750,687 (GRCm39)	T136P	probably damaging	Het
Or2y13	A	T	11: 49,415,405 (GRCm39)	N285I	probably damaging	Het
Or4k6	A	T	14: 50,476,096 (GRCm39)	I82N	probably damaging	Het
Or52e18	A	T	7: 104,609,018 (GRCm39)	I307N	probably benign	Het
Or52r1c	T	C	7: 102,735,358 (GRCm39)	F206S	probably damaging	Het
Or9s18	A	T	13: 65,300,877 (GRCm39)	I280F	probably damaging	Het
Pcdhb5	A	G	18: 37,454,675 (GRCm39)	T352A	probably benign	Het
Pcdhb7	A	T	18: 37,476,442 (GRCm39)	D526V	probably damaging	Het
Phkg1	A	T	5: 129,893,394 (GRCm39)		probably null	Het
Plg	C	T	17: 12,637,623 (GRCm39)	T744M	probably damaging	Het
Plxnd1	A	C	6: 115,935,660 (GRCm39)		probably benign	Het
Poglut1	A	T	16: 38,349,837 (GRCm39)	I312N	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppt1	A	G	4: 122,737,892 (GRCm39)	M77V	probably benign	Het
Pramel26	A	C	4: 143,539,155 (GRCm39)	S113A	possibly damaging	Het
Pramel5	G	T	4: 143,998,190 (GRCm39)	T351N	probably damaging	Het
Psmb4	G	A	3: 94,792,275 (GRCm39)	R216C	probably benign	Het
Ptprd	T	C	4: 76,002,640 (GRCm39)	T699A	probably damaging	Het
Retreg3	A	T	11: 100,989,455 (GRCm39)		probably benign	Het
Sanbr	C	T	11: 23,525,491 (GRCm39)	R716H	probably damaging	Het
Scaper	G	A	9: 55,665,340 (GRCm39)	A389V	probably damaging	Het
Serinc5	G	A	13: 92,825,245 (GRCm39)	D225N	possibly damaging	Het
Slco1a1	T	G	6: 141,871,480 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sod3	A	T	5: 52,525,421 (GRCm39)	D40V	probably benign	Het
Sorcs3	C	A	19: 48,194,734 (GRCm39)	A39E	probably benign	Het
Spon1	A	T	7: 113,639,056 (GRCm39)	T761S	probably benign	Het
Syde2	A	G	3: 145,720,004 (GRCm39)		probably null	Het
Synm	T	A	7: 67,408,916 (GRCm39)	D154V	probably benign	Het
Synpo2	T	C	3: 122,908,098 (GRCm39)	E406G	probably damaging	Het
Tcea3	T	A	4: 135,975,382 (GRCm39)	L8*	probably null	Het
Tec	G	A	5: 72,980,840 (GRCm39)	L33F	probably damaging	Het
Tex15	T	A	8: 34,072,354 (GRCm39)	S2634T	possibly damaging	Het
Tg	T	A	15: 66,601,475 (GRCm39)	Y162N	probably damaging	Het
Tmem8b	G	A	4: 43,690,123 (GRCm39)	V853I	probably benign	Het
Togaram1	A	G	12: 65,068,240 (GRCm39)	K1748E	probably damaging	Het
Ttn	T	C	2: 76,728,822 (GRCm39)		probably benign	Het
Usp36	C	T	11: 118,163,847 (GRCm39)	D234N	probably damaging	Het
Usp40	G	A	1: 87,906,244 (GRCm39)	P664S	probably benign	Het
Vmn1r54	T	A	6: 90,246,635 (GRCm39)	L183H	probably benign	Het
Vmn1r58	T	G	7: 5,413,676 (GRCm39)	I185L	probably benign	Het
Wnt8a	A	T	18: 34,680,618 (GRCm39)	R328W	probably benign	Het
Yars1	A	G	4: 129,107,732 (GRCm39)		probably benign	Het
Zbtb49	A	C	5: 38,358,018 (GRCm39)	M745R	probably damaging	Het
Zeb1	T	G	18: 5,759,027 (GRCm39)	F162V	probably damaging	Het
Zfp369	A	T	13: 65,445,362 (GRCm39)	H835L	probably damaging	Het
Zic5	A	G	14: 122,701,351 (GRCm39)	V460A	unknown	Het
Zp3	A	G	5: 136,013,210 (GRCm39)	N181D	possibly damaging	Het

Other mutations in Man2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Man2a2	APN	7	80,010,880 (GRCm39)	missense	possibly damaging	0.94
IGL01405:Man2a2	APN	7	80,010,682 (GRCm39)	missense	probably benign	0.00
IGL01717:Man2a2	APN	7	80,017,113 (GRCm39)	missense	probably damaging	1.00
IGL01843:Man2a2	APN	7	80,012,654 (GRCm39)	missense	probably benign
IGL02212:Man2a2	APN	7	80,012,056 (GRCm39)	missense	probably benign	0.00
IGL02383:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02434:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02493:Man2a2	APN	7	80,019,363 (GRCm39)	missense	possibly damaging	0.68
IGL02528:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02529:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02530:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02534:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02869:Man2a2	APN	7	80,013,689 (GRCm39)	missense	probably benign	0.00
IGL03084:Man2a2	APN	7	80,002,691 (GRCm39)	missense	possibly damaging	0.88
IGL03088:Man2a2	APN	7	80,009,082 (GRCm39)	missense	possibly damaging	0.91
IGL03377:Man2a2	APN	7	80,008,800 (GRCm39)	splice site	probably null
IGL03412:Man2a2	APN	7	80,016,746 (GRCm39)	missense	probably damaging	1.00
dugong	UTSW	7	80,010,669 (GRCm39)	missense	probably benign	0.12
R2090_Man2a2_705	UTSW	7	80,013,858 (GRCm39)	unclassified	probably benign
R7828_Man2a2_437	UTSW	7	80,016,674 (GRCm39)	missense	probably damaging	0.98
R0112:Man2a2	UTSW	7	80,008,024 (GRCm39)	missense	probably damaging	0.99
R0119:Man2a2	UTSW	7	80,017,153 (GRCm39)	missense	probably damaging	1.00
R1184:Man2a2	UTSW	7	80,012,713 (GRCm39)	missense	possibly damaging	0.79
R1445:Man2a2	UTSW	7	80,018,310 (GRCm39)	missense	probably benign	0.06
R1626:Man2a2	UTSW	7	80,017,450 (GRCm39)	missense	probably damaging	1.00
R1739:Man2a2	UTSW	7	80,012,186 (GRCm39)	missense	probably benign	0.10
R1820:Man2a2	UTSW	7	80,008,681 (GRCm39)	missense	probably benign	0.22
R2090:Man2a2	UTSW	7	80,013,858 (GRCm39)	unclassified	probably benign
R2144:Man2a2	UTSW	7	80,013,264 (GRCm39)	missense	probably damaging	1.00
R2150:Man2a2	UTSW	7	80,017,532 (GRCm39)	missense	probably damaging	1.00
R3882:Man2a2	UTSW	7	80,012,063 (GRCm39)	missense	possibly damaging	0.70
R4181:Man2a2	UTSW	7	80,001,487 (GRCm39)	missense	possibly damaging	0.79
R4285:Man2a2	UTSW	7	80,018,367 (GRCm39)	missense	probably damaging	1.00
R4302:Man2a2	UTSW	7	80,001,487 (GRCm39)	missense	possibly damaging	0.79
R4440:Man2a2	UTSW	7	80,001,463 (GRCm39)	missense	probably benign	0.37
R4494:Man2a2	UTSW	7	80,009,023 (GRCm39)	splice site	probably null
R4564:Man2a2	UTSW	7	80,018,586 (GRCm39)	missense	probably benign	0.00
R4631:Man2a2	UTSW	7	80,012,211 (GRCm39)	missense	probably benign	0.10
R5328:Man2a2	UTSW	7	80,018,504 (GRCm39)	missense	probably benign	0.06
R5329:Man2a2	UTSW	7	80,010,876 (GRCm39)	missense	possibly damaging	0.82
R5468:Man2a2	UTSW	7	80,002,729 (GRCm39)	missense	probably damaging	0.98
R5774:Man2a2	UTSW	7	80,018,106 (GRCm39)	missense	probably damaging	1.00
R5824:Man2a2	UTSW	7	80,002,780 (GRCm39)	missense	probably benign	0.00
R5915:Man2a2	UTSW	7	80,010,669 (GRCm39)	missense	probably benign	0.12
R5937:Man2a2	UTSW	7	80,013,251 (GRCm39)	missense	probably damaging	1.00
R6101:Man2a2	UTSW	7	80,016,749 (GRCm39)	missense	probably damaging	1.00
R6105:Man2a2	UTSW	7	80,016,749 (GRCm39)	missense	probably damaging	1.00
R6481:Man2a2	UTSW	7	80,013,819 (GRCm39)	missense	probably damaging	0.99
R6592:Man2a2	UTSW	7	80,002,947 (GRCm39)	missense	probably damaging	0.98
R6869:Man2a2	UTSW	7	80,012,693 (GRCm39)	missense	probably benign	0.35
R6918:Man2a2	UTSW	7	80,002,940 (GRCm39)	missense	possibly damaging	0.91
R7137:Man2a2	UTSW	7	80,009,499 (GRCm39)	missense	probably benign	0.19
R7236:Man2a2	UTSW	7	80,018,653 (GRCm39)	missense	probably damaging	1.00
R7496:Man2a2	UTSW	7	80,002,745 (GRCm39)	missense	probably damaging	1.00
R7522:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7523:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7524:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7583:Man2a2	UTSW	7	80,016,692 (GRCm39)	missense	probably damaging	1.00
R7681:Man2a2	UTSW	7	80,001,497 (GRCm39)	missense	possibly damaging	0.49
R7828:Man2a2	UTSW	7	80,016,674 (GRCm39)	missense	probably damaging	0.98
R7843:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7845:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7847:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7848:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7984:Man2a2	UTSW	7	80,003,056 (GRCm39)	missense	probably damaging	0.99
R8194:Man2a2	UTSW	7	80,010,766 (GRCm39)	missense	probably benign
R8296:Man2a2	UTSW	7	80,018,656 (GRCm39)	missense	probably damaging	0.99
R8376:Man2a2	UTSW	7	80,010,671 (GRCm39)	nonsense	probably null
R8515:Man2a2	UTSW	7	80,018,038 (GRCm39)	missense	possibly damaging	0.88
R8842:Man2a2	UTSW	7	80,003,067 (GRCm39)	missense	probably damaging	1.00
R9205:Man2a2	UTSW	7	80,010,868 (GRCm39)	missense	probably benign
R9563:Man2a2	UTSW	7	80,006,101 (GRCm39)	missense	probably benign
X0057:Man2a2	UTSW	7	80,012,072 (GRCm39)	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