Incidental Mutation 'R5774:Man2a2'
| ID |
445558 |
| 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 |
043373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R5774 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80349097-80371375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80368358 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 188
(Y188C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000205436]
[ENSMUST00000206212]
[ENSMUST00000206301]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098346
AA Change: Y188C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: Y188C
| 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: Y188C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,531,667 (GRCm38) |
L62M |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,628,559 (GRCm38) |
T949I |
probably damaging |
Het |
| Adam4 |
C |
T |
12: 81,420,686 (GRCm38) |
S387N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,510,967 (GRCm38) |
S1327G |
probably damaging |
Het |
| Arhgap1 |
A |
G |
2: 91,654,108 (GRCm38) |
T12A |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 67,881,492 (GRCm38) |
S228P |
possibly damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,101,961 (GRCm38) |
D106V |
probably damaging |
Het |
| Atp9b |
T |
G |
18: 80,933,932 (GRCm38) |
D3A |
probably damaging |
Het |
| BC030867 |
T |
A |
11: 102,255,669 (GRCm38) |
I257N |
possibly damaging |
Het |
| Bptf |
A |
G |
11: 107,111,137 (GRCm38) |
F383S |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,639,057 (GRCm38) |
T104A |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,062,655 (GRCm38) |
E171G |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,162,861 (GRCm38) |
M1126K |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,568,370 (GRCm38) |
I59N |
probably damaging |
Het |
| Ddx52 |
A |
G |
11: 83,946,134 (GRCm38) |
I150M |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,579,819 (GRCm38) |
V62A |
probably benign |
Het |
| Dpep1 |
C |
A |
8: 123,199,982 (GRCm38) |
D211E |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,918,090 (GRCm38) |
V452A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,409,135 (GRCm38) |
V2831A |
possibly damaging |
Het |
| Hydin |
G |
T |
8: 110,571,915 (GRCm38) |
E3722* |
probably null |
Het |
| Il17a |
A |
G |
1: 20,733,773 (GRCm38) |
S131G |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,967,689 (GRCm38) |
P119S |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lca5l |
G |
T |
16: 96,176,061 (GRCm38) |
Q177K |
probably benign |
Het |
| Lrrc61 |
C |
T |
6: 48,568,199 (GRCm38) |
|
probably benign |
Het |
| Mdk |
T |
C |
2: 91,931,224 (GRCm38) |
E36G |
probably damaging |
Het |
| Mmp12 |
T |
C |
9: 7,354,823 (GRCm38) |
I272T |
possibly damaging |
Het |
| Myh4 |
A |
T |
11: 67,253,208 (GRCm38) |
K1135* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,301,048 (GRCm38) |
Y96N |
probably damaging |
Het |
| Olfr1080 |
A |
T |
2: 86,554,007 (GRCm38) |
V39E |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 154,980,662 (GRCm38) |
G806D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,858,410 (GRCm38) |
Y396C |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,356,685 (GRCm38) |
I472N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,523,164 (GRCm38) |
W220R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,760,298 (GRCm38) |
V309A |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,745,000 (GRCm38) |
M394V |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,245,400 (GRCm38) |
R210H |
probably damaging |
Het |
| Spocd1 |
T |
A |
4: 129,951,786 (GRCm38) |
S480T |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 120,050,458 (GRCm38) |
|
noncoding transcript |
Het |
| Srrm2 |
A |
G |
17: 23,818,275 (GRCm38) |
|
probably benign |
Het |
| Stx16 |
G |
A |
2: 174,093,499 (GRCm38) |
G156R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,328,499 (GRCm38) |
K779E |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,391,226 (GRCm38) |
F2344I |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,933,555 (GRCm38) |
|
probably null |
Het |
| Ube4a |
G |
A |
9: 44,953,097 (GRCm38) |
P66L |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,953,598 (GRCm38) |
F200L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,477,202 (GRCm38) |
H410Q |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 80,285,340 (GRCm38) |
H344Y |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,241,846 (GRCm38) |
R1145* |
probably null |
Het |
| Zbed4 |
T |
A |
15: 88,781,649 (GRCm38) |
F640Y |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,132,562 (GRCm38) |
R527C |
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 |
|
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 |
|
R6105: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'- TGGCAGCCACACAATGAGAC -3'
(R):5'- CAAGTGTTTGTGGTGCCTCAC -3'
Sequencing Primer
(F):5'- GAGTCCTAGATAATGATCGACCTTCC -3'
(R):5'- CTCCCACAACGATCCAGGTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation