Mutagenetix > Incidental Mutation

Incidental Mutation 'R6592:Man2a2'

524640

Institutional Source

Beutler Lab

Gene Symbol

Man2a2

Ensembl Gene

ENSMUSG00000038886

Gene Name

mannosidase 2, alpha 2

Synonyms

MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik

MMRRC Submission

044716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R6592 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

79998845-80021123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80002947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1054 (D1054G)

Ref Sequence

ENSEMBL: ENSMUSP00000095949 (fasta)

Gene Model

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

AlphaFold

Q8BRK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098346
AA Change: D1054G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: D1054G

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

probably benign
Transcript: ENSMUST00000206807

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

94% (31/33)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,859,579 (GRCm39)	V340A	possibly damaging	Het
Btbd17	T	C	11: 114,682,302 (GRCm39)	Y470C	probably damaging	Het
Clca3a1	G	C	3: 144,719,644 (GRCm39)	A442G	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Efcab5	G	T	11: 77,004,436 (GRCm39)	Q1097K	possibly damaging	Het
Epha7	T	C	4: 28,813,482 (GRCm39)		probably null	Het
Exoc6	A	G	19: 37,560,360 (GRCm39)	T126A	probably benign	Het
Fnip2	T	C	3: 79,389,015 (GRCm39)	Q572R	probably benign	Het
Gm17430	C	T	18: 9,726,514 (GRCm39)	V53I	probably benign	Het
Gpr149	T	C	3: 62,437,961 (GRCm39)	D732G	probably benign	Het
Hdlbp	A	G	1: 93,340,083 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,857,438 (GRCm39)		probably null	Het
Htt	C	T	5: 35,034,388 (GRCm39)	T1953I	possibly damaging	Het
Lgmn	C	T	12: 102,370,529 (GRCm39)	V134I	probably damaging	Het
Lhfpl7	A	G	5: 113,382,329 (GRCm39)	Y34C	probably damaging	Het
Lysmd1	A	G	3: 95,045,197 (GRCm39)	S148G	probably benign	Het
Mcph1	A	G	8: 18,718,983 (GRCm39)	T640A	probably damaging	Het
Nat10	T	C	2: 103,584,495 (GRCm39)	E94G	probably null	Het
Or4a67	G	A	2: 88,598,471 (GRCm39)	H63Y	probably damaging	Het
Or5v1	T	A	17: 37,809,988 (GRCm39)	W149R	probably damaging	Het
Pgm3	A	G	9: 86,441,496 (GRCm39)	V367A	possibly damaging	Het
Ppp1r1a	A	C	15: 103,439,799 (GRCm39)	D164E	probably damaging	Het
Proca1	G	T	11: 78,095,779 (GRCm39)	S137I	probably benign	Het
Serinc5	T	C	13: 92,844,634 (GRCm39)	F459L	possibly damaging	Het
Slc12a8	T	C	16: 33,437,626 (GRCm39)		probably null	Het
Slc51a	T	C	16: 32,294,621 (GRCm39)	D321G	probably damaging	Het
Tchhl1	T	A	3: 93,378,116 (GRCm39)	D273E	probably damaging	Het
Tlk1	G	A	2: 70,544,497 (GRCm39)	R713C	probably damaging	Het
Tpr	T	C	1: 150,287,656 (GRCm39)	I465T	possibly damaging	Het
Usp1	A	G	4: 98,814,756 (GRCm39)	I5M	possibly damaging	Het
Zcchc14	T	C	8: 122,331,378 (GRCm39)		probably benign	Het

Other mutations in Man2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Man2a2	APN	7	80,010,880 (GRCm39)	missense	possibly damaging	0.94
IGL01405:Man2a2	APN	7	80,010,682 (GRCm39)	missense	probably benign	0.00
IGL01717:Man2a2	APN	7	80,017,113 (GRCm39)	missense	probably damaging	1.00
IGL01843:Man2a2	APN	7	80,012,654 (GRCm39)	missense	probably benign
IGL02212:Man2a2	APN	7	80,012,056 (GRCm39)	missense	probably benign	0.00
IGL02383:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02434:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02493:Man2a2	APN	7	80,019,363 (GRCm39)	missense	possibly damaging	0.68
IGL02528:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02529:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02530:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02534:Man2a2	APN	7	80,009,388 (GRCm39)	missense	probably damaging	0.99
IGL02869:Man2a2	APN	7	80,013,689 (GRCm39)	missense	probably benign	0.00
IGL03084:Man2a2	APN	7	80,002,691 (GRCm39)	missense	possibly damaging	0.88
IGL03088:Man2a2	APN	7	80,009,082 (GRCm39)	missense	possibly damaging	0.91
IGL03377:Man2a2	APN	7	80,008,800 (GRCm39)	splice site	probably null
IGL03412:Man2a2	APN	7	80,016,746 (GRCm39)	missense	probably damaging	1.00
dugong	UTSW	7	80,010,669 (GRCm39)	missense	probably benign	0.12
R2090_Man2a2_705	UTSW	7	80,013,858 (GRCm39)	unclassified	probably benign
R7828_Man2a2_437	UTSW	7	80,016,674 (GRCm39)	missense	probably damaging	0.98
R0112:Man2a2	UTSW	7	80,008,024 (GRCm39)	missense	probably damaging	0.99
R0119:Man2a2	UTSW	7	80,017,153 (GRCm39)	missense	probably damaging	1.00
R0646:Man2a2	UTSW	7	80,012,945 (GRCm39)	missense	possibly damaging	0.53
R1184:Man2a2	UTSW	7	80,012,713 (GRCm39)	missense	possibly damaging	0.79
R1445:Man2a2	UTSW	7	80,018,310 (GRCm39)	missense	probably benign	0.06
R1626:Man2a2	UTSW	7	80,017,450 (GRCm39)	missense	probably damaging	1.00
R1739:Man2a2	UTSW	7	80,012,186 (GRCm39)	missense	probably benign	0.10
R1820:Man2a2	UTSW	7	80,008,681 (GRCm39)	missense	probably benign	0.22
R2090:Man2a2	UTSW	7	80,013,858 (GRCm39)	unclassified	probably benign
R2144:Man2a2	UTSW	7	80,013,264 (GRCm39)	missense	probably damaging	1.00
R2150:Man2a2	UTSW	7	80,017,532 (GRCm39)	missense	probably damaging	1.00
R3882:Man2a2	UTSW	7	80,012,063 (GRCm39)	missense	possibly damaging	0.70
R4181:Man2a2	UTSW	7	80,001,487 (GRCm39)	missense	possibly damaging	0.79
R4285:Man2a2	UTSW	7	80,018,367 (GRCm39)	missense	probably damaging	1.00
R4302:Man2a2	UTSW	7	80,001,487 (GRCm39)	missense	possibly damaging	0.79
R4440:Man2a2	UTSW	7	80,001,463 (GRCm39)	missense	probably benign	0.37
R4494:Man2a2	UTSW	7	80,009,023 (GRCm39)	splice site	probably null
R4564:Man2a2	UTSW	7	80,018,586 (GRCm39)	missense	probably benign	0.00
R4631:Man2a2	UTSW	7	80,012,211 (GRCm39)	missense	probably benign	0.10
R5328:Man2a2	UTSW	7	80,018,504 (GRCm39)	missense	probably benign	0.06
R5329:Man2a2	UTSW	7	80,010,876 (GRCm39)	missense	possibly damaging	0.82
R5468:Man2a2	UTSW	7	80,002,729 (GRCm39)	missense	probably damaging	0.98
R5774:Man2a2	UTSW	7	80,018,106 (GRCm39)	missense	probably damaging	1.00
R5824:Man2a2	UTSW	7	80,002,780 (GRCm39)	missense	probably benign	0.00
R5915:Man2a2	UTSW	7	80,010,669 (GRCm39)	missense	probably benign	0.12
R5937:Man2a2	UTSW	7	80,013,251 (GRCm39)	missense	probably damaging	1.00
R6101:Man2a2	UTSW	7	80,016,749 (GRCm39)	missense	probably damaging	1.00
R6105:Man2a2	UTSW	7	80,016,749 (GRCm39)	missense	probably damaging	1.00
R6481:Man2a2	UTSW	7	80,013,819 (GRCm39)	missense	probably damaging	0.99
R6869:Man2a2	UTSW	7	80,012,693 (GRCm39)	missense	probably benign	0.35
R6918:Man2a2	UTSW	7	80,002,940 (GRCm39)	missense	possibly damaging	0.91
R7137:Man2a2	UTSW	7	80,009,499 (GRCm39)	missense	probably benign	0.19
R7236:Man2a2	UTSW	7	80,018,653 (GRCm39)	missense	probably damaging	1.00
R7496:Man2a2	UTSW	7	80,002,745 (GRCm39)	missense	probably damaging	1.00
R7522:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7523:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7524:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7583:Man2a2	UTSW	7	80,016,692 (GRCm39)	missense	probably damaging	1.00
R7681:Man2a2	UTSW	7	80,001,497 (GRCm39)	missense	possibly damaging	0.49
R7828:Man2a2	UTSW	7	80,016,674 (GRCm39)	missense	probably damaging	0.98
R7843:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7845:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7847:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7848:Man2a2	UTSW	7	80,018,613 (GRCm39)	missense	probably benign	0.00
R7984:Man2a2	UTSW	7	80,003,056 (GRCm39)	missense	probably damaging	0.99
R8194:Man2a2	UTSW	7	80,010,766 (GRCm39)	missense	probably benign
R8296:Man2a2	UTSW	7	80,018,656 (GRCm39)	missense	probably damaging	0.99
R8376:Man2a2	UTSW	7	80,010,671 (GRCm39)	nonsense	probably null
R8515:Man2a2	UTSW	7	80,018,038 (GRCm39)	missense	possibly damaging	0.88
R8842:Man2a2	UTSW	7	80,003,067 (GRCm39)	missense	probably damaging	1.00
R9205:Man2a2	UTSW	7	80,010,868 (GRCm39)	missense	probably benign
R9563:Man2a2	UTSW	7	80,006,101 (GRCm39)	missense	probably benign
X0057:Man2a2	UTSW	7	80,012,072 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCTGGAAGACAGTCAGG -3'
(R):5'- CTGTTCTGAAAAGAGCTGGC -3'

Sequencing Primer
(F):5'- CAGTCAGGGGCAAGGGC -3'
(R):5'- TTCACCTAGAGGGGCTCTGTC -3'

Posted On

2018-06-22