Incidental Mutation 'R7965:Morc2b'
| ID |
650342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2b
|
| Ensembl Gene |
ENSMUSG00000048602 |
| Gene Name |
microrchidia 2B |
| Synonyms |
4932411A10Rik |
| MMRRC Submission |
046008-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R7965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33354746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1009
(E1009K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
| AlphaFold |
Q8C5W4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053896
AA Change: E1009K
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: E1009K
| 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 |
possibly damaging
Transcript: ENSMUST00000131954
AA Change: E1009K
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: E1009K
| 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 |
100% (45/45) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,791,465 (GRCm39) |
T154A |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,007 (GRCm39) |
I1795T |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,850,762 (GRCm39) |
V436A |
probably benign |
Het |
| Bche |
A |
T |
3: 73,609,149 (GRCm39) |
N92K |
probably damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,105 (GRCm39) |
H219Y |
probably benign |
Het |
| Cables1 |
T |
G |
18: 11,973,269 (GRCm39) |
V136G |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,769,270 (GRCm39) |
R1887* |
probably null |
Het |
| Chrd |
A |
G |
16: 20,557,903 (GRCm39) |
E774G |
probably benign |
Het |
| Chrna2 |
A |
G |
14: 66,388,525 (GRCm39) |
*513W |
probably null |
Het |
| Cracr2b |
T |
C |
7: 141,044,161 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,523 (GRCm39) |
I545N |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,654,717 (GRCm39) |
T654S |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,968,228 (GRCm39) |
S308P |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hmmr |
A |
C |
11: 40,606,256 (GRCm39) |
|
probably null |
Het |
| Hoxb9 |
A |
G |
11: 96,165,464 (GRCm39) |
N178D |
probably benign |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,595 (GRCm39) |
F82I |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,702,578 (GRCm39) |
K99* |
probably null |
Het |
| Il4i1 |
A |
G |
7: 44,489,819 (GRCm39) |
Q528R |
probably benign |
Het |
| Inhba |
G |
T |
13: 16,201,572 (GRCm39) |
G378V |
possibly damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,623 (GRCm39) |
S44P |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Mgat4d |
T |
C |
8: 84,084,722 (GRCm39) |
V155A |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,695,721 (GRCm39) |
L341H |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,129,216 (GRCm39) |
D716N |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,796,953 (GRCm39) |
|
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,818,707 (GRCm39) |
V271A |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,810 (GRCm39) |
V69I |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,338,815 (GRCm39) |
H4R |
probably benign |
Het |
| Ppp1r37 |
T |
C |
7: 19,265,868 (GRCm39) |
T633A |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,258,302 (GRCm39) |
K576E |
probably damaging |
Het |
| Prl2c5 |
G |
T |
13: 13,360,469 (GRCm39) |
M45I |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,223,824 (GRCm39) |
G397* |
probably null |
Het |
| Rnf44 |
A |
G |
13: 54,830,667 (GRCm39) |
S247P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,336,555 (GRCm39) |
F684L |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,502,648 (GRCm39) |
M286K |
probably benign |
Het |
| Slc39a9 |
G |
A |
12: 80,713,450 (GRCm39) |
G116D |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,762,621 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,630,154 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,853,474 (GRCm39) |
H1831Q |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,667,614 (GRCm39) |
H792Q |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,720,542 (GRCm39) |
Q936R |
possibly damaging |
Het |
| Usp53 |
A |
T |
3: 122,756,531 (GRCm39) |
|
probably null |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,696 (GRCm39) |
C271* |
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,071 (GRCm39) |
M547L |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,800 (GRCm39) |
T254M |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,163,770 (GRCm39) |
F655S |
unknown |
Het |
| Zfp605 |
G |
A |
5: 110,275,316 (GRCm39) |
G145S |
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 |
|
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 |
|
R8452:Morc2b
|
UTSW |
17 |
33,356,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGTGCTTTAAGGATAGACATGCAC -3'
(R):5'- CCGCTCCTACCAAAGATGTG -3'
Sequencing Primer
(F):5'- ACATGCACACATAAATAATGAAAAGC -3'
(R):5'- TGTGCTGACTCACAAGCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation