Incidental Mutation 'R8452:Morc2b'
| ID |
654831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2b
|
| Ensembl Gene |
ENSMUSG00000048602 |
| Gene Name |
microrchidia 2B |
| Synonyms |
4932411A10Rik |
| MMRRC Submission |
067903-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R8452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33356476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 432
(D432G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
| AlphaFold |
Q8C5W4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053896
AA Change: D432G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: D432G
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.78e0 |
SMART |
|
coiled coil region
|
285 |
321 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
495 |
541 |
1.9e-16 |
PFAM |
|
coiled coil region
|
555 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1001 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131954
AA Change: D432G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: D432G
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.78e0 |
SMART |
|
coiled coil region
|
285 |
321 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
494 |
543 |
7.7e-18 |
PFAM |
|
coiled coil region
|
555 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1001 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Actl7b |
T |
A |
4: 56,740,251 (GRCm39) |
D369V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,804 (GRCm39) |
D900G |
possibly damaging |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,377 (GRCm39) |
N246S |
possibly damaging |
Het |
| Cdkal1 |
G |
A |
13: 29,538,663 (GRCm39) |
P499S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpp |
A |
G |
13: 49,683,887 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Cox8b |
T |
A |
7: 140,478,929 (GRCm39) |
E62V |
probably null |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,162 (GRCm39) |
A342T |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,997 (GRCm39) |
Y112H |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,241,261 (GRCm39) |
A212D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,466,986 (GRCm39) |
E3626G |
probably null |
Het |
| Dpys |
T |
C |
15: 39,656,720 (GRCm39) |
E449G |
possibly damaging |
Het |
| Fam187a |
C |
A |
11: 102,777,400 (GRCm39) |
C401* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,814,937 (GRCm39) |
I3557L |
probably benign |
Het |
| Gm30083 |
C |
T |
14: 33,712,279 (GRCm39) |
|
probably null |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| H2bc7 |
A |
G |
13: 23,758,219 (GRCm39) |
V49A |
probably damaging |
Het |
| Ifi213 |
T |
C |
1: 173,422,835 (GRCm39) |
K10R |
possibly damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,425 (GRCm39) |
I59F |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,818,374 (GRCm39) |
D361E |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,863,510 (GRCm39) |
S28P |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,876,260 (GRCm39) |
V284D |
probably damaging |
Het |
| Nrip2 |
A |
T |
6: 128,384,957 (GRCm39) |
D203V |
probably damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,047 (GRCm39) |
Y495N |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,829,103 (GRCm39) |
C171S |
probably damaging |
Het |
| Or52n4 |
A |
T |
7: 104,293,736 (GRCm39) |
V281E |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,459 (GRCm39) |
L172M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,647 (GRCm39) |
M151L |
probably benign |
Het |
| Pacrg |
T |
A |
17: 10,795,523 (GRCm39) |
R146* |
probably null |
Het |
| Pcdh18 |
A |
T |
3: 49,699,624 (GRCm39) |
M946K |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,575,917 (GRCm39) |
I241T |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,243,639 (GRCm39) |
I944T |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,510,511 (GRCm39) |
F99L |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,431,493 (GRCm39) |
N756K |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,355,363 (GRCm39) |
M1555L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,355,364 (GRCm39) |
M1555R |
probably benign |
Het |
| Prl3c1 |
T |
A |
13: 27,386,385 (GRCm39) |
D123E |
probably benign |
Het |
| Prr22 |
G |
A |
17: 57,078,311 (GRCm39) |
G155R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,698,899 (GRCm39) |
D1132G |
probably damaging |
Het |
| Rnf180 |
A |
T |
13: 105,318,056 (GRCm39) |
F452Y |
probably damaging |
Het |
| Scn4b |
A |
T |
9: 45,058,039 (GRCm39) |
I44F |
possibly damaging |
Het |
| Selenon |
A |
T |
4: 134,275,398 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,607,410 (GRCm39) |
I291L |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Tbc1d8 |
G |
T |
1: 39,444,438 (GRCm39) |
R174S |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,914,428 (GRCm39) |
F2370L |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,844,202 (GRCm39) |
H115L |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,381 (GRCm39) |
T1345S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,831 (GRCm39) |
N27354I |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,838,290 (GRCm39) |
Y854H |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,689,253 (GRCm39) |
W11R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,577 (GRCm39) |
Q347R |
probably benign |
Het |
|
| Other mutations in Morc2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Morc2b
|
APN |
17 |
33,356,293 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01369:Morc2b
|
APN |
17 |
33,357,139 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01533:Morc2b
|
APN |
17 |
33,354,695 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02003:Morc2b
|
APN |
17 |
33,357,298 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02028:Morc2b
|
APN |
17 |
33,356,387 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02152:Morc2b
|
APN |
17 |
33,356,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Morc2b
|
APN |
17 |
33,356,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Morc2b
|
APN |
17 |
33,356,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03293:Morc2b
|
APN |
17 |
33,357,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
twinkle
|
UTSW |
17 |
33,354,906 (GRCm39) |
nonsense |
probably null |
|
|
PIT4283001:Morc2b
|
UTSW |
17 |
33,355,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Morc2b
|
UTSW |
17 |
33,357,733 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0116:Morc2b
|
UTSW |
17 |
33,356,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Morc2b
|
UTSW |
17 |
33,355,956 (GRCm39) |
nonsense |
probably null |
|
|
R0533:Morc2b
|
UTSW |
17 |
33,354,906 (GRCm39) |
nonsense |
probably null |
|
|
R0556:Morc2b
|
UTSW |
17 |
33,356,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0629:Morc2b
|
UTSW |
17 |
33,354,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0635:Morc2b
|
UTSW |
17 |
33,356,661 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0840:Morc2b
|
UTSW |
17 |
33,355,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1205:Morc2b
|
UTSW |
17 |
33,354,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Morc2b
|
UTSW |
17 |
33,355,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1676:Morc2b
|
UTSW |
17 |
33,354,955 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1892:Morc2b
|
UTSW |
17 |
33,354,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Morc2b
|
UTSW |
17 |
33,356,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Morc2b
|
UTSW |
17 |
33,356,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Morc2b
|
UTSW |
17 |
33,356,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Morc2b
|
UTSW |
17 |
33,355,734 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3609:Morc2b
|
UTSW |
17 |
33,355,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3610:Morc2b
|
UTSW |
17 |
33,355,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Morc2b
|
UTSW |
17 |
33,356,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4156:Morc2b
|
UTSW |
17 |
33,357,401 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4243:Morc2b
|
UTSW |
17 |
33,355,375 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Morc2b
|
UTSW |
17 |
33,357,712 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4911:Morc2b
|
UTSW |
17 |
33,356,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Morc2b
|
UTSW |
17 |
33,355,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5264:Morc2b
|
UTSW |
17 |
33,357,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5326:Morc2b
|
UTSW |
17 |
33,355,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5455:Morc2b
|
UTSW |
17 |
33,357,584 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5933:Morc2b
|
UTSW |
17 |
33,357,583 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5973:Morc2b
|
UTSW |
17 |
33,356,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6026:Morc2b
|
UTSW |
17 |
33,356,957 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6113:Morc2b
|
UTSW |
17 |
33,357,042 (GRCm39) |
nonsense |
probably null |
|
|
R6393:Morc2b
|
UTSW |
17 |
33,356,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7066:Morc2b
|
UTSW |
17 |
33,355,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7117:Morc2b
|
UTSW |
17 |
33,356,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7120:Morc2b
|
UTSW |
17 |
33,354,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Morc2b
|
UTSW |
17 |
33,355,262 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7498:Morc2b
|
UTSW |
17 |
33,356,833 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7516:Morc2b
|
UTSW |
17 |
33,356,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7664:Morc2b
|
UTSW |
17 |
33,355,376 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7754:Morc2b
|
UTSW |
17 |
33,356,218 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7756:Morc2b
|
UTSW |
17 |
33,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Morc2b
|
UTSW |
17 |
33,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Morc2b
|
UTSW |
17 |
33,357,397 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7957:Morc2b
|
UTSW |
17 |
33,354,747 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7965:Morc2b
|
UTSW |
17 |
33,354,746 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8164:Morc2b
|
UTSW |
17 |
33,357,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8283:Morc2b
|
UTSW |
17 |
33,355,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8338:Morc2b
|
UTSW |
17 |
33,355,387 (GRCm39) |
missense |
probably benign |
|
|
R8349:Morc2b
|
UTSW |
17 |
33,355,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8352:Morc2b
|
UTSW |
17 |
33,356,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Morc2b
|
UTSW |
17 |
33,357,295 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8364:Morc2b
|
UTSW |
17 |
33,357,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8449:Morc2b
|
UTSW |
17 |
33,355,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8476:Morc2b
|
UTSW |
17 |
33,354,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8844:Morc2b
|
UTSW |
17 |
33,354,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Morc2b
|
UTSW |
17 |
33,354,997 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9571:Morc2b
|
UTSW |
17 |
33,355,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Morc2b
|
UTSW |
17 |
33,355,060 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1177:Morc2b
|
UTSW |
17 |
33,356,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTGCATAGCCCTCTTGC -3'
(R):5'- TCAAAGAACCTAAGGAGCTGAC -3'
Sequencing Primer
(F):5'- ATAGCCCTCTTGCGTTTGAAATG -3'
(R):5'- GTGTCAACATTGAACACCGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation