Mutagenetix > Incidental Mutation

Incidental Mutation 'R7583:Man2a2'

586881

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

045666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R7583 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79998845-80021123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80016692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 374 (R374H)

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: R374H

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

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: R374H

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 damaging
Transcript: ENSMUST00000206301
AA Change: R374H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,569,670 (GRCm39)	D462V	probably damaging	Het
Abcc1	T	C	16: 14,221,902 (GRCm39)	W222R	probably damaging	Het
Adamts13	A	G	2: 26,863,965 (GRCm39)	K48E	probably benign	Het
Adgrd1	A	C	5: 129,256,652 (GRCm39)	T674P	probably benign	Het
Agbl4	A	T	4: 110,976,150 (GRCm39)	Y169F	possibly damaging	Het
Ahnak	T	A	19: 8,983,457 (GRCm39)	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,747,210 (GRCm39)		probably null	Het
Ap3d1	G	A	10: 80,545,292 (GRCm39)	T1053I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Bdp1	T	A	13: 100,186,320 (GRCm39)	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,991,133 (GRCm39)	I141V	probably damaging	Het
Cavin2	A	T	1: 51,328,777 (GRCm39)	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,916,262 (GRCm39)	H406R	probably benign	Het
Cd200r4	A	G	16: 44,653,784 (GRCm39)	T194A	probably damaging	Het
Cdt1	G	A	8: 123,296,995 (GRCm39)	R263H	probably damaging	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Clasp2	A	G	9: 113,737,755 (GRCm39)	D1043G	probably benign	Het
Cmip	A	T	8: 118,181,691 (GRCm39)	N578I	probably damaging	Het
Col2a1	T	G	15: 97,874,065 (GRCm39)	K1440N	unknown	Het
Cpne2	A	T	8: 95,282,209 (GRCm39)	M252L	probably benign	Het
Crb2	A	G	2: 37,680,607 (GRCm39)	T512A	probably benign	Het
Csmd1	A	G	8: 16,048,833 (GRCm39)	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,442,405 (GRCm39)	D642E	probably damaging	Het
Ctns	A	G	11: 73,079,296 (GRCm39)	S141P	probably benign	Het
Cwh43	A	G	5: 73,591,632 (GRCm39)	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,458,489 (GRCm39)	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,160,879 (GRCm39)	S849P	probably damaging	Het
Dnm3	T	A	1: 162,305,343 (GRCm39)	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,711,990 (GRCm39)	M1K	probably null	Het
Fam124a	T	A	14: 62,844,008 (GRCm39)	C505*	probably null	Het
Fhip2a	T	A	19: 57,367,034 (GRCm39)	D192E	probably benign	Het
Fsip2	A	G	2: 82,805,585 (GRCm39)	I635V	probably benign	Het
Gm5878	A	T	6: 85,095,682 (GRCm39)		probably null	Het
Gpld1	C	A	13: 25,159,743 (GRCm39)	A437D	probably damaging	Het
Grk5	G	T	19: 61,071,642 (GRCm39)	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,224,047 (GRCm39)	L259Q	probably damaging	Het
Habp2	T	A	19: 56,300,236 (GRCm39)	D191E	probably benign	Het
Helz2	T	A	2: 180,879,365 (GRCm39)	H751L	probably benign	Het
Hgsnat	A	G	8: 26,461,592 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,317,716 (GRCm39)	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,204,216 (GRCm39)	A26T	probably damaging	Het
Ivd	C	A	2: 118,692,612 (GRCm39)	D37E	probably damaging	Het
Kif26b	G	A	1: 178,358,010 (GRCm39)	W40*	probably null	Het
Klrc2	A	G	6: 129,636,274 (GRCm39)	S114P	probably damaging	Het
Lama1	A	T	17: 68,068,616 (GRCm39)	T772S		Het
Lamc1	T	A	1: 153,118,978 (GRCm39)	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,874,423 (GRCm39)	D12N		Het
Lpin2	G	T	17: 71,538,391 (GRCm39)	E384*	probably null	Het
Lrrc23	T	C	6: 124,756,541 (GRCm39)		probably benign	Het
Lrrc31	T	C	3: 30,745,248 (GRCm39)		probably null	Het
Luc7l2	A	G	6: 38,528,820 (GRCm39)	Q13R	probably damaging	Het
Ly6c1	G	T	15: 74,920,346 (GRCm39)	H5Q	probably damaging	Het
Lyst	A	T	13: 13,810,472 (GRCm39)	H714L	probably damaging	Het
Mchr1	A	T	15: 81,121,642 (GRCm39)	T131S	probably benign	Het
Msto1	T	C	3: 88,820,236 (GRCm39)		probably null	Het
Myh1	C	T	11: 67,111,739 (GRCm39)	T1698I	probably benign	Het
Ncapd3	G	T	9: 26,983,144 (GRCm39)	C964F	probably damaging	Het
Nefh	T	C	11: 4,891,089 (GRCm39)	E510G	probably damaging	Het
Or10g3b	T	C	14: 52,587,360 (GRCm39)	T48A	possibly damaging	Het
Or13a24	A	G	7: 140,154,123 (GRCm39)	E19G	probably benign	Het
Or1b1	A	T	2: 36,995,539 (GRCm39)	L41*	probably null	Het
Or1q1	A	C	2: 36,887,092 (GRCm39)	K90T	probably damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
P4ha1	T	A	10: 59,205,462 (GRCm39)	S497R	probably benign	Het
Palb2	T	C	7: 121,726,565 (GRCm39)	D435G	probably benign	Het
Papola	C	T	12: 105,777,304 (GRCm39)	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,815,377 (GRCm39)	R623G	probably damaging	Het
Pcolce	T	G	5: 137,605,707 (GRCm39)	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,431,760 (GRCm39)		probably null	Het
Ppp6r3	T	A	19: 3,540,790 (GRCm39)	T443S	probably benign	Het
Pramel58	A	T	5: 94,830,753 (GRCm39)	T84S	possibly damaging	Het
Psg20	T	A	7: 18,416,408 (GRCm39)	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,355,179 (GRCm39)	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,809,430 (GRCm39)	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,858,612 (GRCm39)	S574P	probably benign	Het
Slc36a1	A	G	11: 55,104,754 (GRCm39)		probably null	Het
Slc9a5	A	G	8: 106,089,904 (GRCm39)	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,515,249 (GRCm39)		probably null	Het
Snx17	A	G	5: 31,353,877 (GRCm39)	N222D	possibly damaging	Het
Spata19	G	T	9: 27,311,729 (GRCm39)	S116I	possibly damaging	Het
Spn	G	A	7: 126,736,234 (GRCm39)	A91V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
St7	A	T	6: 17,942,753 (GRCm39)	T575S	possibly damaging	Het
Taf2	A	T	15: 54,928,072 (GRCm39)	Y110*	probably null	Het
Tcf20	T	C	15: 82,739,477 (GRCm39)	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,935,129 (GRCm39)	A1973E	probably benign	Het
Tg	T	G	15: 66,636,267 (GRCm39)	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,346,487 (GRCm39)	Y1882*	probably null	Het
Trim45	T	A	3: 100,832,339 (GRCm39)	C191S	probably damaging	Het
Upf3a	G	A	8: 13,835,889 (GRCm39)		probably null	Het
Vmn2r42	A	T	7: 8,197,740 (GRCm39)	L293*	probably null	Het
Vmn2r62	T	A	7: 42,437,466 (GRCm39)	Q339H	possibly damaging	Het
Wdr24	A	T	17: 26,044,804 (GRCm39)	R220W	probably null	Het
Wdr5	T	A	2: 27,408,787 (GRCm39)	S22T	probably benign	Het
Zfp37	G	A	4: 62,110,253 (GRCm39)		probably benign	Het
Zfp735	A	T	11: 73,601,933 (GRCm39)	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,667,946 (GRCm39)	C271*	probably null	Het
Zranb1	G	A	7: 132,585,625 (GRCm39)	R691Q	probably benign	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
R0646:Man2a2	UTSW	7	80,012,945 (GRCm39)	missense	possibly damaging	0.53
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
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'- CCTCTTTGGAGTAAAATGTCAACACC -3'
(R):5'- TGAACCTGCACACCTCTGAC -3'

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

Posted On

2019-10-24