Mutagenetix > Incidental Mutations

Incidental Mutation 'R7236:Man2a2'

562823

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

Is this an essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80368905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 69 (S69G)

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: S69G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: S69G

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: ENSMUST00000206212

Predicted Effect

probably benign
Transcript: ENSMUST00000206301
AA Change: S69G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,871,616	V179I	probably benign	Het
Adra1b	A	G	11: 43,776,324	I362T	possibly damaging	Het
B3galnt1	T	C	3: 69,575,617	K104E	probably benign	Het
Bnc2	T	C	4: 84,555,864	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,317,663	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,604,116	F595L	probably damaging	Het
Cct2	A	T	10: 117,061,559	D93E	probably benign	Het
Cemip	A	T	7: 83,948,804		probably null	Het
Ciapin1	T	C	8: 94,823,710	T34A		Het
Dopey1	G	A	9: 86,515,378	V912I	probably damaging	Het
Eif3c	T	C	7: 126,552,323	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,214,481	R106G	probably damaging	Het
Ephx3	T	A	17: 32,185,354		probably null	Het
Etv2	A	T	7: 30,635,030	S93T	probably benign	Het
Fbxo34	T	A	14: 47,530,384	D451E	probably benign	Het
Fmo9	A	G	1: 166,676,571	F141L	probably damaging	Het
Fryl	T	C	5: 73,108,478	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,695,831	D170G	probably damaging	Het
Gm11639	A	T	11: 104,899,267	Q2832L	probably benign	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gm17783	A	T	16: 45,527,667	I169N	possibly damaging	Het
Gm4869	G	T	5: 140,471,645	A390S	probably benign	Het
Gnptg	T	C	17: 25,239,923	N34S	possibly damaging	Het
Golga5	T	A	12: 102,474,775		probably null	Het
Herc2	G	T	7: 56,085,080	L139F	probably benign	Het
Ikzf2	T	A	1: 69,539,081	N423I	probably benign	Het
Il31ra	A	T	13: 112,523,905	*717R	probably null	Het
Itga2	G	T	13: 114,877,691	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,909,939		probably null	Het
Mccc1	A	G	3: 35,983,795	V294A	probably benign	Het
Mphosph8	T	A	14: 56,674,297	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,776,488	N288K	probably benign	Het
Msantd2	T	C	9: 37,489,669	W116R	probably damaging	Het
Mtmr10	T	C	7: 64,314,184		probably benign	Het
Mylk	A	T	16: 34,922,529	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,525,764	K879E	probably damaging	Het
Olfr1062	A	T	2: 86,423,189	C162*	probably null	Het
Pak6	A	G	2: 118,693,428	T355A	probably benign	Het
Patj	C	T	4: 98,411,057	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,301,452	A157V	probably damaging	Het
Phkg1	C	A	5: 129,866,961	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,465,889	S45L	probably benign	Het
Prl4a1	A	C	13: 28,018,573	T44P	probably benign	Het
Ptpro	G	A	6: 137,368,337	V114M	probably damaging	Het
Pwp1	A	G	10: 85,879,283	N211S	probably benign	Het
Ralgapb	A	G	2: 158,440,827	D504G	probably benign	Het
Rock2	A	T	12: 16,929,002	I98F	probably damaging	Het
Senp6	G	T	9: 80,132,965	V785L	probably damaging	Het
Simc1	A	G	13: 54,524,796	D319G	probably benign	Het
Tas2r105	A	T	6: 131,686,760	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,868,704	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,509,190		probably null	Het
Trank1	G	T	9: 111,373,074	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,623,594	M286K	possibly damaging	Het
Ttn	T	C	2: 76,867,452	T202A		Het
Ttyh1	A	G	7: 4,133,664	N424D	probably benign	Het
Usp24	T	A	4: 106,406,305		probably null	Het
Utp20	G	T	10: 88,749,342	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,933,151	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,359,602	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,681,751	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,631,990	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,257,549	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,836,208	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 36,041,838	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,783,670		probably null	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
R1184:Man2a2	UTSW	7	80362965	missense	possibly damaging	0.79
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
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'- ACACGGTTAACATCTGCCG -3'
(R):5'- GCCTTGTGTAATAATAGCCTGAC -3'

Sequencing Primer
(F):5'- AATGCAGCTCAGTGCCTGTC -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'

Posted On

2019-06-26