Mutagenetix > Incidental Mutation

Incidental Mutation 'R4302:Man2a2'

322457

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

041089-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80351739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1140 (E1140V)

Ref Sequence

ENSEMBL: ENSMUSP00000095949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000206089] [ENSMUST00000206807]

AlphaFold

Q8BRK9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098346
AA Change: E1140V

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: E1140V

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: ENSMUST00000206066

Predicted Effect

probably benign
Transcript: ENSMUST00000206089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206494

Predicted Effect

probably benign
Transcript: ENSMUST00000206807

Meta Mutation Damage Score

0.1036

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (42/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,746,630	Y1445C	probably damaging	Het
Arhgef12	G	A	9: 43,018,349	Q217*	probably null	Het
Bcas1	A	G	2: 170,418,627	V44A	probably benign	Het
Clic4	A	G	4: 135,226,039	V98A	probably benign	Het
Col6a3	A	T	1: 90,807,614	I771N	probably damaging	Het
Creb3l1	T	C	2: 91,993,319	I183V	probably damaging	Het
Dnhd1	T	A	7: 105,693,954	W1502R	probably damaging	Het
Dync2h1	A	T	9: 7,077,880	S2941T	probably benign	Het
Gm973	A	G	1: 59,551,240	Y302C	possibly damaging	Het
Hcfc1	A	G	X: 73,949,366	S1398P	probably benign	Het
Igsf10	T	C	3: 59,318,750	I2501V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Loxl4	T	A	19: 42,607,591	Y141F	probably benign	Het
Mgam	A	G	6: 40,763,085	D1664G	probably benign	Het
Mill2	A	T	7: 18,856,531	T179S	probably damaging	Het
Ncf4	T	C	15: 78,260,762		probably benign	Het
Nol12	T	C	15: 78,940,141	S154P	probably damaging	Het
Nupl1	A	G	14: 60,247,426	S50P	probably benign	Het
Olfr106-ps	T	A	17: 37,395,486	N315K	probably benign	Het
Olfr736	T	C	14: 50,393,446	I230T	probably benign	Het
Olfr849	A	G	9: 19,440,999	T29A	probably benign	Het
Pdss1	T	C	2: 22,915,505	I265T	probably damaging	Het
Piezo2	T	C	18: 63,124,730		probably null	Het
Rad50	T	A	11: 53,702,005	N106I	probably benign	Het
Rhpn2	A	G	7: 35,390,845	T631A	probably benign	Het
Rps11	T	C	7: 45,122,944	M80V	probably benign	Het
Rrm1	T	C	7: 102,447,824	Y104H	probably benign	Het
Sgsm3	T	A	15: 81,010,301		probably benign	Het
Slc9c1	A	T	16: 45,544,791	L162F	probably benign	Het
Son	A	G	16: 91,658,411	T1349A	possibly damaging	Het
Stk24	A	G	14: 121,292,082	L386S	probably benign	Het
Tfcp2	G	T	15: 100,514,849	N307K	possibly damaging	Het
Trbv21	T	A	6: 41,202,768	V6D	probably benign	Het
Trip11	A	T	12: 101,893,768	D282E	probably damaging	Het
Ttn	G	T	2: 76,876,467		probably benign	Het
Vmn2r38	A	G	7: 9,097,563		probably null	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vps8	T	A	16: 21,495,914	L158Q	probably damaging	Het
Wdr66	T	C	5: 123,293,810	I549T	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
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
R9205:Man2a2	UTSW	7	80361120	missense	probably benign
R9563:Man2a2	UTSW	7	80356353	missense	probably benign
X0057:Man2a2	UTSW	7	80362324	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGACTGTTCCAAACGCAG -3'
(R):5'- AGCACTCCGTGTAAGGAAGAAC -3'

Sequencing Primer
(F):5'- TGTTCCAAACGCAGGAGCAG -3'
(R):5'- AGGAAGAACTTACCCACTGTTAG -3'

Posted On

2015-06-20