Incidental Mutation 'R6026:Morc2b'
| ID |
480075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2b
|
| Ensembl Gene |
ENSMUSG00000048602 |
| Gene Name |
microrchidia 2B |
| Synonyms |
4932411A10Rik |
| MMRRC Submission |
044198-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R6026 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33356957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 272
(Y272H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
| AlphaFold |
Q8C5W4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053896
AA Change: Y272H
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: Y272H
| 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: Y272H
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: Y272H
| 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 |
0.6026 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
97% (73/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
G |
11: 58,316,581 (GRCm39) |
D187G |
probably benign |
Het |
| 4933421I07Rik |
A |
T |
7: 42,095,708 (GRCm39) |
M180K |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,903,190 (GRCm39) |
H345R |
possibly damaging |
Het |
| Abcc8 |
T |
C |
7: 45,816,424 (GRCm39) |
T239A |
probably benign |
Het |
| Abcf3 |
A |
G |
16: 20,369,320 (GRCm39) |
E234G |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,047 (GRCm39) |
D363G |
possibly damaging |
Het |
| Adam1a |
A |
T |
5: 121,657,425 (GRCm39) |
C623S |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Barhl2 |
T |
A |
5: 106,603,474 (GRCm39) |
K228N |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,162,115 (GRCm39) |
H153R |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,601 (GRCm39) |
D480G |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,219,029 (GRCm39) |
I182T |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,646 (GRCm39) |
N1208D |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,876,354 (GRCm39) |
C89R |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,690,194 (GRCm39) |
|
probably benign |
Het |
| Cpox |
T |
A |
16: 58,491,298 (GRCm39) |
W170R |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,875,560 (GRCm39) |
K656E |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,661 (GRCm39) |
I66T |
probably damaging |
Het |
| Ercc3 |
T |
C |
18: 32,378,974 (GRCm39) |
|
probably null |
Het |
| Esp38 |
G |
A |
17: 40,266,032 (GRCm39) |
C47Y |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,528,731 (GRCm39) |
V380A |
possibly damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,859,948 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
G |
5: 73,257,340 (GRCm39) |
R736S |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,513,748 (GRCm39) |
V62M |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,368,454 (GRCm39) |
T1045A |
probably damaging |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Gm19410 |
G |
A |
8: 36,279,580 (GRCm39) |
S1815N |
probably benign |
Het |
| Gm28051 |
A |
T |
12: 102,686,444 (GRCm39) |
L72Q |
unknown |
Het |
| Gm44511 |
T |
C |
6: 128,797,240 (GRCm39) |
T83A |
possibly damaging |
Het |
| Grk2 |
C |
T |
19: 4,340,811 (GRCm39) |
V246I |
probably damaging |
Het |
| Grm7 |
C |
T |
6: 111,478,500 (GRCm39) |
Q62* |
probably null |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,600 (GRCm39) |
E154V |
probably damaging |
Het |
| Gstz1 |
A |
C |
12: 87,206,948 (GRCm39) |
Q114P |
probably damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hhip |
A |
T |
8: 80,699,069 (GRCm39) |
C666S |
probably damaging |
Het |
| Hif1a |
A |
C |
12: 73,979,055 (GRCm39) |
H193P |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,449,398 (GRCm39) |
T385A |
probably benign |
Het |
| Ihh |
T |
C |
1: 74,985,886 (GRCm39) |
T200A |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,478 (GRCm39) |
V218E |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,227,755 (GRCm39) |
I1246T |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,118,426 (GRCm39) |
V217A |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,409,272 (GRCm39) |
D1616N |
probably damaging |
Het |
| Lrrfip2 |
A |
T |
9: 111,043,239 (GRCm39) |
T165S |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,571,154 (GRCm39) |
M455T |
unknown |
Het |
| Ncapg2 |
A |
T |
12: 116,406,641 (GRCm39) |
D939V |
possibly damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,958,548 (GRCm39) |
V236A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,957,916 (GRCm39) |
T3595S |
probably damaging |
Het |
| Odf2l |
T |
C |
3: 144,854,797 (GRCm39) |
S545P |
possibly damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,914 (GRCm39) |
I48F |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pdzrn3 |
A |
C |
6: 101,339,105 (GRCm39) |
C269G |
probably benign |
Het |
| Pear1 |
T |
A |
3: 87,664,220 (GRCm39) |
N278Y |
probably damaging |
Het |
| Phb1 |
C |
T |
11: 95,562,245 (GRCm39) |
R41* |
probably null |
Het |
| Pikfyve |
T |
C |
1: 65,311,856 (GRCm39) |
V2031A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,122 (GRCm39) |
I1465V |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,167,113 (GRCm39) |
N776S |
probably benign |
Het |
| Prkce |
A |
T |
17: 86,800,658 (GRCm39) |
E358V |
probably benign |
Het |
| Prl5a1 |
A |
T |
13: 28,335,247 (GRCm39) |
I219F |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,354,488 (GRCm39) |
|
probably null |
Het |
| Ptprc |
A |
T |
1: 137,998,987 (GRCm39) |
M858K |
probably damaging |
Het |
| Retreg3 |
T |
C |
11: 100,997,226 (GRCm39) |
T85A |
probably damaging |
Het |
| Rfc2 |
T |
A |
5: 134,624,185 (GRCm39) |
C265S |
probably damaging |
Het |
| Smarcd1 |
G |
T |
15: 99,603,619 (GRCm39) |
V256L |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,142 (GRCm39) |
F574L |
probably damaging |
Het |
| Tcirg1 |
T |
C |
19: 3,947,487 (GRCm39) |
H624R |
probably benign |
Het |
| Tcstv1a |
C |
A |
13: 120,355,987 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,963,556 (GRCm39) |
|
probably null |
Het |
| Tomm40 |
A |
G |
7: 19,444,889 (GRCm39) |
V164A |
probably benign |
Het |
| Txnl4a |
T |
C |
18: 80,250,482 (GRCm39) |
V26A |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,336 (GRCm39) |
F229L |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,604,541 (GRCm39) |
T1785A |
probably benign |
Het |
| Vmn1r22 |
T |
A |
6: 57,877,390 (GRCm39) |
I196L |
probably benign |
Het |
| Zfp652 |
T |
G |
11: 95,640,788 (GRCm39) |
C238G |
possibly 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 |
|
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 |
|
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'- TGGACCTGACGCAACATCAC -3'
(R):5'- GGTCGTCATTTTCAATCTCAAACTC -3'
Sequencing Primer
(F):5'- TGACGCAACATCACCCTGGAG -3'
(R):5'- TTTTCAATCTCAAACTCACGGAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation