Incidental Mutation 'R0675:Mctp2'
ID |
218606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mctp2
|
Ensembl Gene |
ENSMUSG00000032776 |
Gene Name |
multiple C2 domains, transmembrane 2 |
Synonyms |
LOC244049 |
MMRRC Submission |
038860-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R0675 (G1)
|
Quality Score |
24 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71732918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 829
(T829S)
|
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: T829S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078302 Gene: ENSMUSG00000032776 AA Change: T829S
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 |
0.1328 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
97% (88/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 36,024,124 (GRCm39) |
|
probably benign |
Het |
Aire |
T |
C |
10: 77,870,327 (GRCm39) |
|
probably benign |
Het |
Akap12 |
T |
C |
10: 4,303,315 (GRCm39) |
S42P |
probably benign |
Het |
Amigo1 |
T |
C |
3: 108,098,985 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,600,400 (GRCm39) |
|
probably benign |
Het |
Ano5 |
A |
T |
7: 51,224,558 (GRCm39) |
T472S |
probably damaging |
Het |
Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,217,473 (GRCm39) |
I73V |
probably benign |
Het |
Cd47 |
T |
C |
16: 49,727,162 (GRCm39) |
I318T |
possibly damaging |
Het |
Cep290 |
A |
G |
10: 100,404,675 (GRCm39) |
|
probably null |
Het |
Cep350 |
A |
G |
1: 155,835,499 (GRCm39) |
S66P |
possibly damaging |
Het |
Cfap46 |
C |
T |
7: 139,255,950 (GRCm39) |
C300Y |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,978,523 (GRCm39) |
|
probably benign |
Het |
Chd5 |
C |
A |
4: 152,470,407 (GRCm39) |
T1913K |
probably benign |
Het |
Cimip3 |
T |
C |
17: 47,724,701 (GRCm39) |
E140G |
probably benign |
Het |
Clec4b1 |
A |
G |
6: 123,048,405 (GRCm39) |
Y180C |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,341,990 (GRCm39) |
D227V |
probably damaging |
Het |
Col19a1 |
C |
G |
1: 24,614,536 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,208,145 (GRCm39) |
M1270K |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,175,060 (GRCm39) |
F487I |
possibly damaging |
Het |
Dpp8 |
T |
C |
9: 64,973,784 (GRCm39) |
|
probably benign |
Het |
Duoxa1 |
A |
T |
2: 122,136,861 (GRCm39) |
|
probably benign |
Het |
Edil3 |
A |
G |
13: 89,325,399 (GRCm39) |
K263E |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,200,035 (GRCm39) |
L1013P |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,815,246 (GRCm39) |
|
probably benign |
Het |
Gab1 |
A |
G |
8: 81,496,297 (GRCm39) |
S668P |
probably damaging |
Het |
Galnt14 |
T |
C |
17: 73,852,030 (GRCm39) |
T130A |
probably damaging |
Het |
Gm10192 |
G |
A |
4: 97,071,109 (GRCm39) |
H99Y |
unknown |
Het |
Gm5592 |
A |
G |
7: 40,938,811 (GRCm39) |
T698A |
possibly damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
A |
G |
11: 98,522,017 (GRCm39) |
K149R |
probably benign |
Het |
Igkv4-71 |
A |
G |
6: 69,220,411 (GRCm39) |
S29P |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,236,015 (GRCm39) |
V1389I |
probably benign |
Het |
Ik |
T |
C |
18: 36,880,386 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
Iqsec2 |
G |
A |
X: 150,987,120 (GRCm39) |
E398K |
possibly damaging |
Het |
Jmjd6 |
A |
G |
11: 116,731,353 (GRCm39) |
V232A |
probably damaging |
Het |
Klhdc9 |
G |
A |
1: 171,187,895 (GRCm39) |
T112M |
possibly damaging |
Het |
Marcks |
A |
G |
10: 37,017,181 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,156,102 (GRCm39) |
A78E |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
Mtmr14 |
A |
T |
6: 113,247,608 (GRCm39) |
H518L |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,185,571 (GRCm39) |
M978T |
probably benign |
Het |
Nlrc3 |
T |
C |
16: 3,766,775 (GRCm39) |
I1015V |
probably benign |
Het |
Nlrp5 |
C |
A |
7: 23,116,842 (GRCm39) |
Q189K |
possibly damaging |
Het |
Or1e26 |
A |
C |
11: 73,480,078 (GRCm39) |
L162R |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,909 (GRCm39) |
I135V |
probably benign |
Het |
Or8k35 |
T |
C |
2: 86,424,423 (GRCm39) |
I250V |
probably benign |
Het |
Otof |
T |
A |
5: 30,539,705 (GRCm39) |
Y1051F |
probably benign |
Het |
Pcdhb14 |
C |
A |
18: 37,581,392 (GRCm39) |
T166K |
possibly damaging |
Het |
Pla2g4e |
A |
G |
2: 120,030,679 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,489,471 (GRCm39) |
E20G |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,009,761 (GRCm39) |
D295G |
probably benign |
Het |
Ptpn21 |
C |
A |
12: 98,654,475 (GRCm39) |
A831S |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,065,914 (GRCm39) |
V56E |
probably damaging |
Het |
Rd3l |
T |
C |
12: 111,946,596 (GRCm39) |
D60G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,332,660 (GRCm39) |
D2624G |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,541,066 (GRCm39) |
D347G |
probably damaging |
Het |
Sema4g |
G |
A |
19: 44,986,026 (GRCm39) |
R289H |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,480,703 (GRCm39) |
T761I |
probably benign |
Het |
Septin1 |
A |
T |
7: 126,816,171 (GRCm39) |
F86L |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,415,591 (GRCm39) |
V627A |
possibly damaging |
Het |
Slc25a46 |
C |
A |
18: 31,742,641 (GRCm39) |
G75V |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,025,864 (GRCm39) |
Y405N |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,855,498 (GRCm39) |
E339G |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,067,903 (GRCm39) |
H1770Q |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,628,140 (GRCm39) |
Y944C |
probably damaging |
Het |
Supt20 |
C |
T |
3: 54,614,390 (GRCm39) |
T169I |
probably damaging |
Het |
Tie1 |
G |
A |
4: 118,336,966 (GRCm39) |
Q587* |
probably null |
Het |
Tmem214 |
A |
G |
5: 31,029,169 (GRCm39) |
T203A |
possibly damaging |
Het |
Tmprss15 |
C |
A |
16: 78,782,838 (GRCm39) |
S742I |
probably damaging |
Het |
Wdr87-ps |
T |
C |
7: 29,231,942 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx2 |
A |
G |
14: 55,300,620 (GRCm39) |
V2377A |
probably damaging |
Het |
Zfp763 |
G |
A |
17: 33,238,774 (GRCm39) |
H124Y |
possibly damaging |
Het |
Zfp846 |
T |
C |
9: 20,504,853 (GRCm39) |
S238P |
probably benign |
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 |
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 |
|
R5964:Mctp2
|
UTSW |
7 |
71,752,925 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- TCTCAATTACTCACGCAAGCTCAGC -3'
(R):5'- TGAATGATGCCCCATGACAGCAAC -3'
Sequencing Primer
(F):5'- AAGCTCAGCCATGTGCC -3'
(R):5'- CCATGACAGCAACTTGTGC -3'
|
Posted On |
2014-08-18 |