Incidental Mutation 'R4877:Morc2b'
| ID |
375020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2b
|
| Ensembl Gene |
ENSMUSG00000048602 |
| Gene Name |
microrchidia 2B |
| Synonyms |
4932411A10Rik |
| MMRRC Submission |
042486-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R4877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33357712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 20
(H20R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
| AlphaFold |
Q8C5W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053896
AA Change: H20R
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: H20R
| 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 benign
Transcript: ENSMUST00000131954
AA Change: H20R
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: H20R
| 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 |
|
| Meta Mutation Damage Score |
0.1317 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (76/76) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,258,421 (GRCm39) |
Y475H |
probably damaging |
Het |
| Adamts12 |
G |
T |
15: 11,327,787 (GRCm39) |
G1388V |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,429,982 (GRCm39) |
|
probably null |
Het |
| Atp7b |
T |
A |
8: 22,518,617 (GRCm39) |
I74F |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,977,337 (GRCm39) |
Y1326H |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,871,632 (GRCm39) |
S690G |
probably damaging |
Het |
| Cbx3 |
A |
G |
6: 51,459,540 (GRCm39) |
E169G |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,808,861 (GRCm39) |
M192L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,871,219 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,866,056 (GRCm39) |
C179Y |
probably damaging |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,457 (GRCm39) |
V252E |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,659 (GRCm39) |
G378C |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,058,410 (GRCm39) |
I196L |
possibly damaging |
Het |
| Erbin |
G |
A |
13: 103,987,346 (GRCm39) |
P405S |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,292 (GRCm39) |
|
probably null |
Het |
| F830104G03Rik |
T |
G |
3: 56,797,917 (GRCm39) |
K33T |
unknown |
Het |
| Fbln2 |
C |
A |
6: 91,210,477 (GRCm39) |
H140Q |
probably damaging |
Het |
| Fxr1 |
A |
G |
3: 34,101,847 (GRCm39) |
T109A |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,785 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
C |
T |
18: 62,317,140 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,504,039 (GRCm39) |
L604P |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,711,314 (GRCm39) |
|
probably benign |
Het |
| Ifna16 |
A |
G |
4: 88,594,681 (GRCm39) |
V138A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,703 (GRCm39) |
N1314I |
probably damaging |
Het |
| Kitl |
T |
C |
10: 99,916,728 (GRCm39) |
V177A |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,790,488 (GRCm39) |
Q185L |
probably damaging |
Het |
| Lhx9 |
T |
A |
1: 138,766,092 (GRCm39) |
N232I |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,788,784 (GRCm39) |
R111G |
probably benign |
Het |
| Lrrc41 |
A |
G |
4: 115,936,602 (GRCm39) |
I72M |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,069,899 (GRCm39) |
D39V |
possibly damaging |
Het |
| Lyrm7 |
A |
G |
11: 54,731,936 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,857,734 (GRCm39) |
Y2508N |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,328 (GRCm39) |
Y70F |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,992,409 (GRCm39) |
I235V |
probably benign |
Het |
| Med12l |
G |
A |
3: 59,152,214 (GRCm39) |
V1000M |
probably damaging |
Het |
| Ms4a1 |
A |
T |
19: 11,231,857 (GRCm39) |
S173T |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,228,477 (GRCm39) |
D339A |
probably damaging |
Het |
| Nars1 |
A |
T |
18: 64,633,643 (GRCm39) |
Y542* |
probably null |
Het |
| Nectin2 |
G |
A |
7: 19,451,645 (GRCm39) |
T463I |
possibly damaging |
Het |
| Nrg4 |
A |
G |
9: 55,166,679 (GRCm39) |
F64L |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 91,395,605 (GRCm39) |
I184F |
probably benign |
Het |
| Nxph2 |
C |
T |
2: 23,289,846 (GRCm39) |
P66L |
probably benign |
Het |
| Or10ag2 |
C |
T |
2: 87,248,907 (GRCm39) |
Q170* |
probably null |
Het |
| Or2v1 |
C |
A |
11: 49,025,608 (GRCm39) |
F196L |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,457,295 (GRCm39) |
I48V |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,841,199 (GRCm39) |
|
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,618 (GRCm39) |
N235K |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,026,214 (GRCm39) |
D17G |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,568,633 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,038,762 (GRCm39) |
V42A |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,263,620 (GRCm39) |
R247G |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,524,172 (GRCm39) |
V156D |
probably damaging |
Het |
| Slc22a2 |
T |
A |
17: 12,833,702 (GRCm39) |
Y461N |
possibly damaging |
Het |
| Spag6l |
T |
C |
16: 16,599,622 (GRCm39) |
K280R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,337 (GRCm39) |
L597P |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,798,606 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
| Tgif1 |
A |
C |
17: 71,156,700 (GRCm39) |
|
probably null |
Het |
| Tle3 |
A |
T |
9: 61,280,781 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,020,343 (GRCm39) |
T439A |
probably benign |
Het |
| Twist1 |
C |
T |
12: 34,008,350 (GRCm39) |
T125M |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,111,260 (GRCm39) |
D317V |
possibly damaging |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,407 (GRCm39) |
|
noncoding transcript |
Het |
| Vps72 |
G |
T |
3: 95,025,498 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,498 (GRCm39) |
S735P |
possibly damaging |
Het |
| Zfp42 |
A |
T |
8: 43,748,725 (GRCm39) |
C259S |
possibly damaging |
Het |
| Zmiz2 |
A |
G |
11: 6,353,251 (GRCm39) |
H678R |
probably damaging |
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 |
|
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 |
|
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'- GACATCGTTTGGATCCATTCC -3'
(R):5'- AATGCAGGTTGAGGCTTCAC -3'
Sequencing Primer
(F):5'- GGATCCATTCCGACTCCATTATCCAG -3'
(R):5'- AGGTTGAGGCTTCACCCACC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation