Incidental Mutation 'R0556:Morc2b'
ID |
45591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc2b
|
Ensembl Gene |
ENSMUSG00000048602 |
Gene Name |
microrchidia 2B |
Synonyms |
4932411A10Rik |
MMRRC Submission |
038748-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R0556 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33356812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 320
(M320K)
|
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: M320K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000056879 Gene: ENSMUSG00000048602 AA Change: M320K
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: M320K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123354 Gene: ENSMUSG00000048602 AA Change: M320K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
98% (64/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
T |
A |
17: 15,164,213 (GRCm39) |
Y113* |
probably null |
Het |
4930402F06Rik |
T |
C |
2: 35,280,482 (GRCm39) |
|
probably benign |
Het |
Acad11 |
A |
G |
9: 103,992,501 (GRCm39) |
E481G |
probably damaging |
Het |
Aldh1a1 |
A |
T |
19: 20,611,842 (GRCm39) |
N389Y |
probably damaging |
Het |
Bmpr2 |
C |
T |
1: 59,854,487 (GRCm39) |
T112M |
probably damaging |
Het |
Bms1 |
A |
G |
6: 118,390,140 (GRCm39) |
Y227H |
probably damaging |
Het |
Cab39 |
A |
G |
1: 85,763,212 (GRCm39) |
|
probably benign |
Het |
Ccn3 |
A |
T |
15: 54,612,563 (GRCm39) |
T191S |
probably damaging |
Het |
Ccno |
T |
C |
13: 113,124,820 (GRCm39) |
|
probably null |
Het |
Cct6b |
A |
G |
11: 82,610,270 (GRCm39) |
|
probably benign |
Het |
Cd101 |
A |
C |
3: 100,927,970 (GRCm39) |
I37S |
probably damaging |
Het |
Ces1a |
T |
C |
8: 93,771,740 (GRCm39) |
H19R |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,456,649 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
T |
C |
11: 101,074,822 (GRCm39) |
F831S |
probably benign |
Het |
Col24a1 |
A |
G |
3: 145,020,489 (GRCm39) |
T287A |
possibly damaging |
Het |
Colgalt2 |
C |
T |
1: 152,347,564 (GRCm39) |
|
probably benign |
Het |
Cpd |
A |
G |
11: 76,693,171 (GRCm39) |
|
probably benign |
Het |
Cyp3a16 |
C |
A |
5: 145,392,790 (GRCm39) |
M145I |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,757,719 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,833,426 (GRCm39) |
L1925Q |
probably damaging |
Het |
Eif4g1 |
A |
T |
16: 20,494,544 (GRCm39) |
Y127F |
probably damaging |
Het |
Erap1 |
T |
A |
13: 74,808,444 (GRCm39) |
V52E |
probably damaging |
Het |
Fbxo6 |
G |
T |
4: 148,230,632 (GRCm39) |
T210N |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,858,803 (GRCm39) |
H2308Y |
probably benign |
Het |
Garre1 |
T |
C |
7: 33,939,222 (GRCm39) |
T222A |
probably damaging |
Het |
Gnat3 |
T |
G |
5: 18,224,596 (GRCm39) |
V332G |
probably damaging |
Het |
Ift22 |
T |
A |
5: 136,940,145 (GRCm39) |
|
probably null |
Het |
Igkv4-71 |
A |
G |
6: 69,220,171 (GRCm39) |
C109R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,296 (GRCm39) |
L1295P |
probably benign |
Het |
Itga4 |
T |
C |
2: 79,155,983 (GRCm39) |
I983T |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,079,491 (GRCm39) |
V65D |
probably damaging |
Het |
Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,631,809 (GRCm39) |
|
probably null |
Het |
Ms4a18 |
C |
A |
19: 10,991,065 (GRCm39) |
V10F |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
Mtor |
A |
G |
4: 148,553,837 (GRCm39) |
E812G |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,457,852 (GRCm39) |
Y121C |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,381 (GRCm39) |
S171P |
probably benign |
Het |
Or4a66 |
A |
C |
2: 88,531,115 (GRCm39) |
V186G |
possibly damaging |
Het |
Or8b53 |
A |
T |
9: 38,667,041 (GRCm39) |
D19V |
possibly damaging |
Het |
Plcd3 |
G |
A |
11: 102,968,632 (GRCm39) |
T353M |
probably damaging |
Het |
Pnpla7 |
T |
A |
2: 24,942,313 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
T |
A |
1: 134,705,060 (GRCm39) |
Y876F |
probably damaging |
Het |
Prelid2 |
T |
A |
18: 42,084,245 (GRCm39) |
|
probably benign |
Het |
Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,680,093 (GRCm39) |
L1887P |
unknown |
Het |
Ptk2b |
A |
G |
14: 66,409,593 (GRCm39) |
L481P |
probably damaging |
Het |
Rgl3 |
T |
A |
9: 21,887,140 (GRCm39) |
K531* |
probably null |
Het |
Sacs |
A |
G |
14: 61,421,407 (GRCm39) |
I115V |
probably damaging |
Het |
Septin3 |
G |
T |
15: 82,167,966 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,673,160 (GRCm39) |
S503P |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,529,404 (GRCm39) |
V1887A |
probably benign |
Het |
Synj2 |
T |
A |
17: 6,088,230 (GRCm39) |
L1427* |
probably null |
Het |
Taar2 |
A |
G |
10: 23,816,793 (GRCm39) |
D111G |
probably damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,716 (GRCm39) |
N340S |
probably damaging |
Het |
Tmco2 |
A |
G |
4: 120,966,314 (GRCm39) |
L14P |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,679,367 (GRCm39) |
D746V |
possibly damaging |
Het |
Trip11 |
C |
A |
12: 101,850,777 (GRCm39) |
E811* |
probably null |
Het |
Ttll9 |
T |
C |
2: 152,815,526 (GRCm39) |
|
probably null |
Het |
Uchl1 |
A |
G |
5: 66,839,824 (GRCm39) |
E122G |
probably benign |
Het |
Vwa3b |
C |
A |
1: 37,203,566 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,452,482 (GRCm39) |
N1533S |
unknown |
Het |
Zfp687 |
G |
T |
3: 94,917,719 (GRCm39) |
D684E |
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 |
|
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 |
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'- GGACCAAGTAGGGCACATCAATGAC -3'
(R):5'- TATTCACGGGCACAAGGTGCAG -3'
Sequencing Primer
(F):5'- TAGGGCACATCAATGACTCCAAC -3'
(R):5'- GACCAAAAAGCTCTGCTGCTG -3'
|
Posted On |
2013-06-11 |