Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Man2a2'

721211

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

Accession Numbers

Essential gene?

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

Stock #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80356353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 996 (M996L)

Ref Sequence

ENSEMBL: ENSMUSP00000095949 (fasta)

Gene Model

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

AlphaFold

Q8BRK9

Predicted Effect

probably benign
Transcript: ENSMUST00000098346
AA Change: M996L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: M996L

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: ENSMUST00000205853

Predicted Effect

probably benign
Transcript: ENSMUST00000206301

Predicted Effect

probably benign
Transcript: ENSMUST00000206807

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,187,079	L594V	probably benign	Het
9130409I23Rik	G	T	1: 181,055,245	V191F	possibly damaging	Het
A2m	T	A	6: 121,668,050	D953E	probably damaging	Het
Acod1	A	C	14: 103,049,673	Y80S	probably damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Akna	A	G	4: 63,394,707	V393A	probably damaging	Het
Amotl1	T	C	9: 14,562,217	K562R	possibly damaging	Het
Amz1	T	A	5: 140,752,378	D464E	probably damaging	Het
Anapc1	G	A	2: 128,664,060	Q619*	probably null	Het
Arfgef3	C	T	10: 18,646,527	G584R	probably damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Atr	G	C	9: 95,920,780	V1832L	probably damaging	Het
Bsn	T	C	9: 108,107,417	D374G		Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,137,129	S562P	probably benign	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,299,328	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Col6a6	C	A	9: 105,695,753	G2185C	probably benign	Het
Col7a1	T	C	9: 108,962,741	V1232A	unknown	Het
Copb1	A	G	7: 114,236,799	I449T	possibly damaging	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,383	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,468	L738*	probably null	Het
Cul9	T	A	17: 46,509,971	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,260,880	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Daam1	A	G	12: 71,945,477	E322G	unknown	Het
Dab2ip	T	A	2: 35,719,903	L710*	probably null	Het
Dph1	T	C	11: 75,185,999	T60A	possibly damaging	Het
Eme1	T	C	11: 94,650,513	D161G	probably benign	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Espl1	T	A	15: 102,319,798	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,599,623	I568T	probably damaging	Het
F3	T	A	3: 121,734,173	L85H		Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fbxw14	T	C	9: 109,277,267	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Foxr1	T	A	9: 44,440,902		probably benign	Het
Gas8	T	A	8: 123,536,440	V452E	possibly damaging	Het
Gdpd4	T	C	7: 98,000,162	V450A	probably damaging	Het
Gm17359	A	T	3: 79,449,309	M140L	probably benign	Het
Greb1	T	C	12: 16,724,823	Y191C	probably benign	Het
Haus3	G	A	5: 34,167,956	R120W	probably benign	Het
Herc1	G	T	9: 66,386,911		probably null	Het
Hist1h3i	T	C	13: 21,783,051	D107G	probably damaging	Het
Hyal2	T	C	9: 107,570,645	W166R	probably damaging	Het
Itga7	C	T	10: 128,953,800	A1003V	probably damaging	Het
Itga8	T	A	2: 12,160,408	I797F	possibly damaging	Het
Kank2	T	C	9: 21,794,556	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,709,513	I203N	probably damaging	Het
Kif21b	T	A	1: 136,149,428	L396Q	probably damaging	Het
Kng1	T	G	16: 23,060,420	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,254,480	S288P	probably benign	Het
Lmntd2	A	G	7: 141,210,788	S516P		Het
Lrp1b	T	A	2: 41,295,699	I1449F		Het
Lrrk2	T	A	15: 91,749,840	I1380K	possibly damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Lyst	T	C	13: 13,637,823	L940P	probably benign	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Map4k5	A	G	12: 69,816,393	V629A	probably benign	Het
Mapre2	A	G	18: 23,890,924	E325G	unknown	Het
Mbnl1	A	G	3: 60,613,294	N101S	probably benign	Het
Meltf	T	A	16: 31,885,051	C199S	probably damaging	Het
Mmab	T	C	5: 114,436,789	E141G	probably benign	Het
Mtus2	T	C	5: 148,313,407	L1317P		Het
Muc6	T	A	7: 141,637,870	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Nek1	A	G	8: 61,124,123	E1118G	probably benign	Het
Nrtn	A	G	17: 56,751,416	V195A	probably damaging	Het
Nsd3	G	A	8: 25,714,203	V420I		Het
Olfr1094	A	G	2: 86,828,754	M1V	probably null	Het
Olfr1451	T	A	19: 12,999,619	I211N	probably damaging	Het
Olfr205	T	C	16: 59,329,402	I36V	probably benign	Het
Olfr522	G	A	7: 140,162,320	T210I	probably damaging	Het
Olfr618	A	T	7: 103,598,018	Q234L	probably benign	Het
Olfr677	T	C	7: 105,057,074	L276P	possibly damaging	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Olfr923	A	T	9: 38,827,718	H3L	probably benign	Het
Pde10a	G	T	17: 8,801,878	A216S	unknown	Het
Phldb2	T	C	16: 45,824,884	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,865,502	T1920S		Het
Ptgs2	T	A	1: 150,105,668	N567K	probably benign	Het
Pwp1	T	A	10: 85,876,506	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,918,763	E296G	probably null	Het
Rb1cc1	A	G	1: 6,244,115	K337R	probably benign	Het
Rbp3	A	G	14: 33,955,520	D475G	probably damaging	Het
Ric3	T	C	7: 109,038,790	E253G	possibly damaging	Het
Rictor	A	T	15: 6,768,081	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,899,843	V174E	possibly damaging	Het
Robo3	A	G	9: 37,429,604	F124S	probably damaging	Het
Rrad	A	G	8: 104,628,692	F228S	probably damaging	Het
Scn3a	A	T	2: 65,461,251	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,282,433	D152G	probably benign	Het
Scn5a	C	A	9: 119,486,737	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Shprh	T	A	10: 11,166,491	Y739*	probably null	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc7a12	A	G	3: 14,499,300	I349V	possibly damaging	Het
Slit1	T	C	19: 41,608,435	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,573,559	A231V	unknown	Het
Smg1	A	G	7: 118,212,985	S52P	unknown	Het
Soga1	G	A	2: 157,060,262	R278C	probably damaging	Het
Sorl1	A	G	9: 42,046,597	Y584H	probably damaging	Het
Ssbp1	T	A	6: 40,478,034	S142R	probably benign	Het
Stard3	A	G	11: 98,379,971		probably null	Het
Strn3	G	T	12: 51,627,517	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739	T195A	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tmed5	A	C	5: 108,132,234		probably null	Het
Tmem132a	C	T	19: 10,861,596	R494H	probably benign	Het
Tom1	A	G	8: 75,060,549	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,002,016	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,179,011	K105N	possibly damaging	Het
Trim34a	C	T	7: 104,261,121	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,448,813	N786K	probably benign	Het
Trpc3	A	G	3: 36,651,534	M504T	probably benign	Het
Ttc28	A	T	5: 111,223,226	M545L	probably benign	Het
Uggt1	A	C	1: 36,165,546	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,940,672	Q679*	probably null	Het
Wdfy4	T	C	14: 32,970,876	I2958V		Het
Zbtb37	C	T	1: 161,020,270	S389N	possibly damaging	Het
Zfp235	T	C	7: 24,142,244	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,874,906	C1420S	probably 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
R0646:Man2a2	UTSW	7	80,363,197 (GRCm38)	missense	possibly damaging	0.53
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
X0057:Man2a2	UTSW	7	80,362,324 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACGTGACAAGGGACTGC -3'
(R):5'- AGCTCATCTGTCTCGATGGC -3'

Sequencing Primer
(F):5'- CGAAGCTGCATGAAATGAGTTAGC -3'
(R):5'- CCTGAGGTGGAGAGTCTAGGC -3'

Posted On

2022-08-09