Incidental Mutation 'R5964:Mctp2'
| ID |
471944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
044149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R5964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71752925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 776
(E776G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
[ENSMUST00000206466]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079323
AA Change: E776G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: E776G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
C2
|
195 |
291 |
7.5e-20 |
SMART |
|
C2
|
357 |
451 |
1.27e-8 |
SMART |
|
C2
|
510 |
606 |
5.38e-21 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
Pfam:PRT_C
|
723 |
857 |
2.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206466
|
| Meta Mutation Damage Score |
0.1410 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
96% (87/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
G |
A |
3: 89,250,874 (GRCm39) |
Q581* |
probably null |
Het |
| Agl |
A |
G |
3: 116,587,423 (GRCm39) |
V44A |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,742,008 (GRCm39) |
D608E |
possibly damaging |
Het |
| Aspm |
C |
A |
1: 139,382,965 (GRCm39) |
|
probably benign |
Het |
| Bbs2 |
T |
C |
8: 94,794,995 (GRCm39) |
N692S |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,575,161 (GRCm39) |
I240T |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,872,895 (GRCm39) |
R277L |
possibly damaging |
Het |
| Ccdc61 |
A |
T |
7: 18,634,865 (GRCm39) |
I123N |
probably damaging |
Het |
| Ccr9 |
T |
G |
9: 123,608,499 (GRCm39) |
I60M |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,303,531 (GRCm39) |
W1066R |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,225,307 (GRCm39) |
H68L |
probably benign |
Het |
| Cdkn3 |
T |
A |
14: 47,004,674 (GRCm39) |
C79S |
probably null |
Het |
| Cnnm1 |
A |
T |
19: 43,458,162 (GRCm39) |
E658V |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,252 (GRCm39) |
R304G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,415,760 (GRCm39) |
V286E |
possibly damaging |
Het |
| Creg2 |
C |
A |
1: 39,664,122 (GRCm39) |
R212L |
probably benign |
Het |
| Cyp26a1 |
T |
G |
19: 37,688,410 (GRCm39) |
S311A |
probably damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,625,648 (GRCm39) |
Y484H |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,277 (GRCm39) |
Y308F |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,214,157 (GRCm39) |
V744A |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,777,128 (GRCm39) |
Y124* |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,522,103 (GRCm39) |
D4030G |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,458,730 (GRCm39) |
T4456A |
possibly damaging |
Het |
| Dtx2 |
T |
A |
5: 136,052,553 (GRCm39) |
V347D |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,334,889 (GRCm39) |
T294M |
probably damaging |
Het |
| Gli3 |
C |
G |
13: 15,900,747 (GRCm39) |
S1378* |
probably null |
Het |
| Gnao1 |
G |
A |
8: 94,693,627 (GRCm39) |
D337N |
probably benign |
Het |
| Gp2 |
T |
A |
7: 119,048,352 (GRCm39) |
Q422L |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,625,869 (GRCm39) |
M335K |
possibly damaging |
Het |
| Ism1 |
T |
C |
2: 139,520,677 (GRCm39) |
S30P |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,739,619 (GRCm39) |
D677G |
probably damaging |
Het |
| Kansl1l |
G |
A |
1: 66,765,081 (GRCm39) |
A442V |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,925,000 (GRCm39) |
I311M |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,432,946 (GRCm39) |
S1232P |
possibly damaging |
Het |
| Lsm14b |
T |
A |
2: 179,673,218 (GRCm39) |
S84R |
probably benign |
Het |
| Lzts3 |
A |
G |
2: 130,478,208 (GRCm39) |
Y297H |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,952,191 (GRCm39) |
I205T |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,410,311 (GRCm39) |
N501I |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,218,421 (GRCm39) |
N265K |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,111,115 (GRCm39) |
T1534A |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,580,632 (GRCm39) |
M35V |
probably damaging |
Het |
| Nek4 |
G |
A |
14: 30,679,036 (GRCm39) |
|
probably null |
Het |
| Ngrn |
T |
C |
7: 79,911,681 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,013,846 (GRCm39) |
Q468L |
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,655 (GRCm39) |
M262K |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,895 (GRCm39) |
Q314P |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,980,932 (GRCm39) |
D433G |
probably damaging |
Het |
| Prdm13 |
G |
A |
4: 21,683,852 (GRCm39) |
Q140* |
probably null |
Het |
| Prtg |
G |
A |
9: 72,799,536 (GRCm39) |
G778E |
probably benign |
Het |
| Pum3 |
T |
C |
19: 27,397,451 (GRCm39) |
E308G |
probably damaging |
Het |
| Pwp1 |
T |
G |
10: 85,718,750 (GRCm39) |
F306V |
probably damaging |
Het |
| Rab24 |
A |
T |
13: 55,469,389 (GRCm39) |
Y27N |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,085,898 (GRCm39) |
F126L |
probably benign |
Het |
| Samd13 |
A |
T |
3: 146,386,451 (GRCm39) |
|
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,115,324 (GRCm39) |
H213L |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,905,811 (GRCm39) |
E278G |
probably damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,818,815 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
A |
9: 21,558,726 (GRCm39) |
T631K |
probably benign |
Het |
| Snx16 |
C |
T |
3: 10,499,541 (GRCm39) |
R163Q |
possibly damaging |
Het |
| Stk40 |
T |
C |
4: 126,022,688 (GRCm39) |
V140A |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,775,522 (GRCm39) |
D409E |
probably damaging |
Het |
| Tgfbr2 |
G |
T |
9: 115,939,323 (GRCm39) |
T168K |
possibly damaging |
Het |
| Ticam1 |
G |
T |
17: 56,578,703 (GRCm39) |
H131N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,660,232 (GRCm39) |
R7458I |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,543,855 (GRCm39) |
E31298* |
probably null |
Het |
| Usp7 |
A |
G |
16: 8,529,966 (GRCm39) |
V133A |
possibly damaging |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,827,968 (GRCm39) |
E1118G |
probably damaging |
Het |
| Zfp81 |
G |
C |
17: 33,555,819 (GRCm39) |
P3A |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,282,688 (GRCm39) |
K21R |
possibly damaging |
Het |
|
| Other mutations in Mctp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Mctp2
|
APN |
7 |
71,835,563 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01296:Mctp2
|
APN |
7 |
71,878,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01509:Mctp2
|
APN |
7 |
71,909,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02074:Mctp2
|
APN |
7 |
71,811,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02185:Mctp2
|
APN |
7 |
71,730,571 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02238:Mctp2
|
APN |
7 |
71,739,953 (GRCm39) |
nonsense |
probably null |
|
|
IGL02707:Mctp2
|
APN |
7 |
71,909,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02820:Mctp2
|
APN |
7 |
71,895,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02869:Mctp2
|
APN |
7 |
71,878,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03354:Mctp2
|
APN |
7 |
71,810,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03397:Mctp2
|
APN |
7 |
71,909,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03407:Mctp2
|
APN |
7 |
71,861,400 (GRCm39) |
missense |
probably benign |
0.05 |
|
trifecta
|
UTSW |
7 |
71,909,079 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
triumvirate
|
UTSW |
7 |
71,861,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
troika
|
UTSW |
7 |
71,835,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Mctp2
|
UTSW |
7 |
71,771,499 (GRCm39) |
splice site |
probably benign |
|
|
PIT4131001:Mctp2
|
UTSW |
7 |
71,740,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Mctp2
|
UTSW |
7 |
71,879,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0079:Mctp2
|
UTSW |
7 |
71,863,864 (GRCm39) |
splice site |
probably benign |
|
|
R0083:Mctp2
|
UTSW |
7 |
71,878,264 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0173:Mctp2
|
UTSW |
7 |
71,896,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0302:Mctp2
|
UTSW |
7 |
71,740,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0533:Mctp2
|
UTSW |
7 |
71,730,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0675:Mctp2
|
UTSW |
7 |
71,732,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Mctp2
|
UTSW |
7 |
71,835,615 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1222:Mctp2
|
UTSW |
7 |
71,908,887 (GRCm39) |
missense |
probably benign |
|
|
R1356:Mctp2
|
UTSW |
7 |
71,814,471 (GRCm39) |
unclassified |
probably benign |
|
|
R1628:Mctp2
|
UTSW |
7 |
71,861,337 (GRCm39) |
splice site |
probably null |
|
|
R1649:Mctp2
|
UTSW |
7 |
71,811,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Mctp2
|
UTSW |
7 |
71,814,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2256:Mctp2
|
UTSW |
7 |
71,835,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Mctp2
|
UTSW |
7 |
71,835,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Mctp2
|
UTSW |
7 |
71,861,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2407:Mctp2
|
UTSW |
7 |
71,850,155 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2471:Mctp2
|
UTSW |
7 |
71,810,909 (GRCm39) |
nonsense |
probably null |
|
|
R3706:Mctp2
|
UTSW |
7 |
71,863,859 (GRCm39) |
splice site |
probably benign |
|
|
R4023:Mctp2
|
UTSW |
7 |
71,739,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4025:Mctp2
|
UTSW |
7 |
71,739,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4176:Mctp2
|
UTSW |
7 |
71,909,085 (GRCm39) |
missense |
probably benign |
|
|
R4272:Mctp2
|
UTSW |
7 |
71,909,079 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4498:Mctp2
|
UTSW |
7 |
71,833,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Mctp2
|
UTSW |
7 |
71,739,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Mctp2
|
UTSW |
7 |
71,909,097 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4946:Mctp2
|
UTSW |
7 |
71,909,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5389:Mctp2
|
UTSW |
7 |
71,863,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5682:Mctp2
|
UTSW |
7 |
71,895,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5878:Mctp2
|
UTSW |
7 |
71,863,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5918:Mctp2
|
UTSW |
7 |
71,878,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Mctp2
|
UTSW |
7 |
71,908,923 (GRCm39) |
missense |
probably benign |
|
|
R5978:Mctp2
|
UTSW |
7 |
71,739,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Mctp2
|
UTSW |
7 |
71,908,851 (GRCm39) |
missense |
probably benign |
|
|
R6475:Mctp2
|
UTSW |
7 |
71,850,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6849:Mctp2
|
UTSW |
7 |
71,861,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Mctp2
|
UTSW |
7 |
71,877,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Mctp2
|
UTSW |
7 |
71,908,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Mctp2
|
UTSW |
7 |
71,861,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Mctp2
|
UTSW |
7 |
71,835,544 (GRCm39) |
missense |
probably benign |
|
|
R7765:Mctp2
|
UTSW |
7 |
71,740,079 (GRCm39) |
splice site |
probably null |
|
|
R7822:Mctp2
|
UTSW |
7 |
71,776,935 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7984:Mctp2
|
UTSW |
7 |
71,752,937 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8416:Mctp2
|
UTSW |
7 |
71,852,210 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8678:Mctp2
|
UTSW |
7 |
71,752,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Mctp2
|
UTSW |
7 |
71,879,081 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8820:Mctp2
|
UTSW |
7 |
71,879,081 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8835:Mctp2
|
UTSW |
7 |
71,852,161 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8897:Mctp2
|
UTSW |
7 |
71,909,311 (GRCm39) |
start codon destroyed |
probably benign |
0.27 |
|
R8898:Mctp2
|
UTSW |
7 |
71,752,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9124:Mctp2
|
UTSW |
7 |
71,909,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Mctp2
|
UTSW |
7 |
71,909,028 (GRCm39) |
nonsense |
probably null |
|
|
Z1191:Mctp2
|
UTSW |
7 |
71,835,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCCCACATCTGTCATGG -3'
(R):5'- TGTGTGACAGCAACCAAAATAG -3'
Sequencing Primer
(F):5'- TGGTGACAAGCCCAAGGGAC -3'
(R):5'- GGCTTTTATATCTTGCAGTCAATGAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation