Incidental Mutation 'R2216:Mybpc2'
ID |
241154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybpc2
|
Ensembl Gene |
ENSMUSG00000038670 |
Gene Name |
myosin binding protein C, fast-type |
Synonyms |
Fast-type C-protein |
MMRRC Submission |
040218-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2216 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 44161924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165208]
|
AlphaFold |
Q5XKE0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165208
AA Change: G509S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130127 Gene: ENSMUSG00000038670 AA Change: G509S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
IG
|
54 |
150 |
6.26e-5 |
SMART |
PDB:2LHU|A
|
160 |
236 |
7e-9 |
PDB |
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
IG
|
258 |
337 |
5.21e-2 |
SMART |
IG
|
347 |
430 |
1.2e-1 |
SMART |
IG
|
440 |
526 |
2.72e-5 |
SMART |
IG
|
546 |
631 |
1.68e-5 |
SMART |
FN3
|
634 |
717 |
3.29e-11 |
SMART |
FN3
|
732 |
815 |
1.23e-10 |
SMART |
IG
|
842 |
925 |
6.07e-3 |
SMART |
FN3
|
928 |
1010 |
2.08e-8 |
SMART |
IGc2
|
1055 |
1122 |
6.91e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207516
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
possibly damaging |
Het |
|
Other mutations in Mybpc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Mybpc2
|
APN |
7 |
44,154,829 (GRCm39) |
unclassified |
probably benign |
|
IGL00586:Mybpc2
|
APN |
7 |
44,154,806 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00976:Mybpc2
|
APN |
7 |
44,171,741 (GRCm39) |
splice site |
probably null |
|
IGL01099:Mybpc2
|
APN |
7 |
44,165,591 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01348:Mybpc2
|
APN |
7 |
44,165,352 (GRCm39) |
missense |
probably benign |
|
IGL01625:Mybpc2
|
APN |
7 |
44,166,337 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01733:Mybpc2
|
APN |
7 |
44,155,622 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01946:Mybpc2
|
APN |
7 |
44,159,322 (GRCm39) |
unclassified |
probably benign |
|
IGL02078:Mybpc2
|
APN |
7 |
44,153,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02314:Mybpc2
|
APN |
7 |
44,171,812 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02341:Mybpc2
|
APN |
7 |
44,164,354 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02904:Mybpc2
|
APN |
7 |
44,171,765 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03034:Mybpc2
|
APN |
7 |
44,161,321 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03296:Mybpc2
|
APN |
7 |
44,156,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0094:Mybpc2
|
UTSW |
7 |
44,166,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Mybpc2
|
UTSW |
7 |
44,158,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0330:Mybpc2
|
UTSW |
7 |
44,158,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0336:Mybpc2
|
UTSW |
7 |
44,155,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R0503:Mybpc2
|
UTSW |
7 |
44,161,994 (GRCm39) |
unclassified |
probably benign |
|
R0821:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0822:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0823:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0854:Mybpc2
|
UTSW |
7 |
44,166,426 (GRCm39) |
missense |
probably benign |
0.06 |
R0938:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0939:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0940:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0941:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R1166:Mybpc2
|
UTSW |
7 |
44,154,449 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1219:Mybpc2
|
UTSW |
7 |
44,165,458 (GRCm39) |
splice site |
probably null |
|
R1559:Mybpc2
|
UTSW |
7 |
44,163,111 (GRCm39) |
missense |
probably benign |
0.01 |
R1732:Mybpc2
|
UTSW |
7 |
44,163,099 (GRCm39) |
missense |
probably benign |
|
R1802:Mybpc2
|
UTSW |
7 |
44,161,894 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2157:Mybpc2
|
UTSW |
7 |
44,159,269 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2406:Mybpc2
|
UTSW |
7 |
44,171,149 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2411:Mybpc2
|
UTSW |
7 |
44,155,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R3079:Mybpc2
|
UTSW |
7 |
44,155,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4663:Mybpc2
|
UTSW |
7 |
44,155,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R4736:Mybpc2
|
UTSW |
7 |
44,161,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R5316:Mybpc2
|
UTSW |
7 |
44,169,806 (GRCm39) |
nonsense |
probably null |
|
R5426:Mybpc2
|
UTSW |
7 |
44,159,253 (GRCm39) |
missense |
probably benign |
0.01 |
R5498:Mybpc2
|
UTSW |
7 |
44,165,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Mybpc2
|
UTSW |
7 |
44,164,317 (GRCm39) |
missense |
probably benign |
0.17 |
R5644:Mybpc2
|
UTSW |
7 |
44,156,477 (GRCm39) |
missense |
probably benign |
0.13 |
R5909:Mybpc2
|
UTSW |
7 |
44,156,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R6435:Mybpc2
|
UTSW |
7 |
44,155,481 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6662:Mybpc2
|
UTSW |
7 |
44,155,590 (GRCm39) |
missense |
probably benign |
|
R6901:Mybpc2
|
UTSW |
7 |
44,154,779 (GRCm39) |
missense |
probably damaging |
0.99 |
R7188:Mybpc2
|
UTSW |
7 |
44,155,617 (GRCm39) |
missense |
probably benign |
0.06 |
R7389:Mybpc2
|
UTSW |
7 |
44,155,028 (GRCm39) |
missense |
probably benign |
0.11 |
R7405:Mybpc2
|
UTSW |
7 |
44,156,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R7553:Mybpc2
|
UTSW |
7 |
44,155,571 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7597:Mybpc2
|
UTSW |
7 |
44,159,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Mybpc2
|
UTSW |
7 |
44,165,348 (GRCm39) |
critical splice donor site |
probably null |
|
R7824:Mybpc2
|
UTSW |
7 |
44,154,284 (GRCm39) |
splice site |
probably null |
|
R8003:Mybpc2
|
UTSW |
7 |
44,158,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R8179:Mybpc2
|
UTSW |
7 |
44,159,254 (GRCm39) |
missense |
probably benign |
0.01 |
R8187:Mybpc2
|
UTSW |
7 |
44,161,894 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8413:Mybpc2
|
UTSW |
7 |
44,157,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Mybpc2
|
UTSW |
7 |
44,155,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R8830:Mybpc2
|
UTSW |
7 |
44,161,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Mybpc2
|
UTSW |
7 |
44,158,999 (GRCm39) |
missense |
probably benign |
0.22 |
R9441:Mybpc2
|
UTSW |
7 |
44,166,330 (GRCm39) |
missense |
probably null |
0.96 |
X0052:Mybpc2
|
UTSW |
7 |
44,156,566 (GRCm39) |
missense |
probably benign |
0.23 |
X0065:Mybpc2
|
UTSW |
7 |
44,154,809 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Mybpc2
|
UTSW |
7 |
44,165,927 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1176:Mybpc2
|
UTSW |
7 |
44,171,120 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCCCATGAATATGCATCAG -3'
(R):5'- TGACACATGAGGTAGACCCTG -3'
Sequencing Primer
(F):5'- ATCTGACGCTATCCATGGGC -3'
(R):5'- TAGACCCTGGCCTCACATG -3'
|
Posted On |
2014-10-15 |