Mutagenetix > Incidental Mutation

Incidental Mutation 'R6105:Man2a2'

485468

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

044255-MU

Accession Numbers

Essential gene?

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

Stock #

R6105 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

80349097-80371375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80367001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 355 (D355G)

Ref Sequence

ENSEMBL: ENSMUSP00000145861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000205436] [ENSMUST00000206212] [ENSMUST00000206301]

AlphaFold

Q8BRK9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098346
AA Change: D355G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: D355G

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

probably benign
Transcript: ENSMUST00000205436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205535

Predicted Effect

probably benign
Transcript: ENSMUST00000205853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206066

Predicted Effect

probably benign
Transcript: ENSMUST00000206212

Predicted Effect

probably damaging
Transcript: ENSMUST00000206301
AA Change: D355G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206917

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,397,812 (GRCm38)	M3555T	probably damaging	Het
Adam9	A	T	8: 24,970,759 (GRCm38)	C570S	probably damaging	Het
Adh6b	T	A	3: 138,357,710 (GRCm38)	I350K	possibly damaging	Het
Ahnak	G	A	19: 9,004,099 (GRCm38)	V916I	probably benign	Het
Aldh4a1	C	T	4: 139,638,495 (GRCm38)	P266S	possibly damaging	Het
Cnot7	C	T	8: 40,510,037 (GRCm38)	R32Q	probably benign	Het
Cyb5a	G	A	18: 84,871,593 (GRCm38)	R49Q	possibly damaging	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Glul	T	A	1: 153,906,431 (GRCm38)	Y137*	probably null	Het
Ipo8	A	G	6: 148,798,670 (GRCm38)	Y570H	probably damaging	Het
Kif2b	A	G	11: 91,575,988 (GRCm38)	S490P	probably benign	Het
Kxd1	A	T	8: 70,519,939 (GRCm38)	N33K	probably benign	Het
Map6	T	C	7: 99,268,107 (GRCm38)	V29A	probably damaging	Het
Mtmr3	T	C	11: 4,485,432 (GRCm38)	D1116G	probably damaging	Het
Olfr1198	T	A	2: 88,746,840 (GRCm38)	H16L	probably benign	Het
Olfr917	A	G	9: 38,665,620 (GRCm38)	S75P	probably damaging	Het
Olfr926	T	C	9: 38,877,308 (GRCm38)	L44P	possibly damaging	Het
Pak1ip1	T	A	13: 41,004,885 (GRCm38)	L78Q	probably damaging	Het
Phf10	C	T	17: 14,954,125 (GRCm38)		probably null	Het
Pikfyve	A	G	1: 65,264,345 (GRCm38)		probably null	Het
Pkd1l3	A	G	8: 109,640,846 (GRCm38)	D1225G	probably damaging	Het
Postn	A	G	3: 54,372,220 (GRCm38)		probably null	Het
Slc22a30	T	C	19: 8,337,868 (GRCm38)		probably null	Het
Specc1l	T	C	10: 75,248,632 (GRCm38)	S730P	probably damaging	Het
Steap2	T	A	5: 5,675,891 (GRCm38)	I378F	possibly damaging	Het
Sult4a1	T	A	15: 84,086,620 (GRCm38)	K195*	probably null	Het
Tgfb1i1	T	A	7: 128,248,417 (GRCm38)		probably null	Het
Thbs4	G	T	13: 92,775,485 (GRCm38)	Q246K	possibly damaging	Het
Tnfsf10	A	G	3: 27,335,549 (GRCm38)	Y253C	probably damaging	Het
Tnpo3	G	T	6: 29,588,043 (GRCm38)	C125*	probably null	Het
Trappc8	A	G	18: 20,846,447 (GRCm38)		probably null	Het
Trpm6	C	T	19: 18,853,748 (GRCm38)	R1326*	probably null	Het
Vmn2r19	A	C	6: 123,316,095 (GRCm38)	E365D	possibly damaging	Het
Vps18	A	G	2: 119,289,062 (GRCm38)	Y8C	probably damaging	Het
Zc3hav1l	A	G	6: 38,293,077 (GRCm38)	V279A	probably benign	Het
Zfp111	T	C	7: 24,203,366 (GRCm38)		probably null	Het
Zfp618	A	T	4: 63,133,241 (GRCm38)	Q753L	probably benign	Het
Zkscan17	A	T	11: 59,503,575 (GRCm38)	C67S	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
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
R9563:Man2a2	UTSW	7	80,356,353 (GRCm38)	missense	probably benign
X0057:Man2a2	UTSW	7	80,362,324 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCAGGTTTCAGTCTAACTCC -3'
(R):5'- ATACTTGCGACCTCAGCGTC -3'

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

Posted On

2017-08-16