Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Man2a2'

698445

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: 0.180) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80361120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 708 (V708I)

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: V708I

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

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: V708I

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: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	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
R7236:Man2a2	UTSW	7	80368905	missense	probably damaging	1.00
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
R9563:Man2a2	UTSW	7	80356353	missense	probably benign
X0057:Man2a2	UTSW	7	80362324	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAACCAGACCTGCATGTAGC -3'
(R):5'- ACTGTGTGCCTTTGCTGACG -3'

Sequencing Primer
(F):5'- CGATTGCTGATGGCGAAGTC -3'
(R):5'- CTTTGCTGACGAGTGTGCAGAAG -3'

Posted On

2022-02-07