Incidental Mutation 'R8416:Mctp2'
ID |
652946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mctp2
|
Ensembl Gene |
ENSMUSG00000032776 |
Gene Name |
multiple C2 domains, transmembrane 2 |
Synonyms |
LOC244049 |
MMRRC Submission |
067770-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R8416 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71852210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 439
(I439V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
|
AlphaFold |
Q5RJH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079323
AA Change: I439V
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000078302 Gene: ENSMUSG00000032776 AA Change: I439V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,369,023 (GRCm39) |
N173S |
probably benign |
Het |
Agps |
A |
G |
2: 75,684,547 (GRCm39) |
I172V |
probably benign |
Het |
Amz1 |
G |
A |
5: 140,737,731 (GRCm39) |
W330* |
probably null |
Het |
Asap1 |
A |
T |
15: 64,002,072 (GRCm39) |
M413K |
possibly damaging |
Het |
Bhmt1b |
T |
C |
18: 87,774,687 (GRCm39) |
V70A |
probably damaging |
Het |
Ccdc83 |
A |
T |
7: 89,885,513 (GRCm39) |
W291R |
unknown |
Het |
Cdh19 |
A |
T |
1: 110,853,610 (GRCm39) |
M277K |
probably benign |
Het |
Clca3a1 |
C |
A |
3: 144,460,914 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,408,423 (GRCm39) |
T138A |
probably benign |
Het |
Csnka2ip |
T |
C |
16: 64,300,295 (GRCm39) |
D23G |
|
Het |
Cxcr5 |
A |
T |
9: 44,425,583 (GRCm39) |
F25I |
probably benign |
Het |
Defb33 |
T |
A |
8: 21,387,651 (GRCm39) |
*63R |
probably null |
Het |
Dgkz |
A |
T |
2: 91,770,649 (GRCm39) |
S485T |
possibly damaging |
Het |
Elac1 |
A |
G |
18: 73,871,927 (GRCm39) |
I356T |
probably damaging |
Het |
Fam135a |
C |
T |
1: 24,067,675 (GRCm39) |
D1065N |
probably benign |
Het |
Fbxo10 |
T |
A |
4: 45,058,942 (GRCm39) |
D265V |
possibly damaging |
Het |
Flrt2 |
A |
G |
12: 95,746,331 (GRCm39) |
E223G |
probably benign |
Het |
Gjc2 |
A |
T |
11: 59,068,334 (GRCm39) |
D49E |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Irf2 |
A |
T |
8: 47,271,887 (GRCm39) |
Y158F |
probably benign |
Het |
Jmy |
T |
C |
13: 93,634,949 (GRCm39) |
D289G |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Limch1 |
T |
G |
5: 67,156,649 (GRCm39) |
I372S |
probably benign |
Het |
Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
Mboat2 |
G |
A |
12: 24,984,609 (GRCm39) |
E147K |
probably damaging |
Het |
Npc2 |
A |
G |
12: 84,812,131 (GRCm39) |
V37A |
probably damaging |
Het |
Or2t29 |
A |
T |
11: 58,433,778 (GRCm39) |
S188T |
possibly damaging |
Het |
Or5b119 |
A |
T |
19: 13,456,764 (GRCm39) |
M266K |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,825,271 (GRCm39) |
|
probably null |
Het |
Pcdhga2 |
A |
T |
18: 37,803,178 (GRCm39) |
N341Y |
probably damaging |
Het |
Pde1b |
G |
A |
15: 103,423,745 (GRCm39) |
|
probably benign |
Het |
Pde1c |
C |
T |
6: 56,128,276 (GRCm39) |
|
probably null |
Het |
Plce1 |
G |
A |
19: 38,761,441 (GRCm39) |
V2098I |
possibly damaging |
Het |
Pou2f2 |
G |
T |
7: 24,815,551 (GRCm39) |
S72* |
probably null |
Het |
Ptpru |
C |
T |
4: 131,535,783 (GRCm39) |
R398H |
probably damaging |
Het |
Rps15 |
A |
G |
10: 80,128,624 (GRCm39) |
K7E |
probably benign |
Het |
Rtn4rl2 |
C |
T |
2: 84,702,951 (GRCm39) |
G207D |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,511,345 (GRCm39) |
L130F |
probably benign |
Het |
Sh3tc1 |
G |
A |
5: 35,868,256 (GRCm39) |
R403W |
probably damaging |
Het |
Slc7a9 |
A |
G |
7: 35,152,858 (GRCm39) |
K92R |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,399,062 (GRCm39) |
E142D |
probably benign |
Het |
Srpk1 |
A |
G |
17: 28,813,229 (GRCm39) |
I505T |
probably damaging |
Het |
Sult1c2 |
A |
T |
17: 54,269,580 (GRCm39) |
I216K |
probably benign |
Het |
Susd6 |
T |
A |
12: 80,897,997 (GRCm39) |
M44K |
probably benign |
Het |
Thoc5 |
T |
A |
11: 4,876,068 (GRCm39) |
V607E |
probably benign |
Het |
Tiparp |
A |
G |
3: 65,438,767 (GRCm39) |
R28G |
probably benign |
Het |
Tln1 |
C |
T |
4: 43,540,116 (GRCm39) |
V1498I |
probably benign |
Het |
Tmprss11c |
T |
G |
5: 86,387,276 (GRCm39) |
Q214P |
probably damaging |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Wdr11 |
G |
A |
7: 129,232,403 (GRCm39) |
S937N |
possibly damaging |
Het |
Zdhhc23 |
A |
T |
16: 43,791,927 (GRCm39) |
I282K |
probably damaging |
Het |
Zfp488 |
A |
G |
14: 33,693,052 (GRCm39) |
M37T |
probably benign |
Het |
Zmpste24 |
T |
C |
4: 120,940,556 (GRCm39) |
S142G |
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 |
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 |
|
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 |
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'- TGCAAGTTCCTGGACAGAGAG -3'
(R):5'- TGAGAGACTACCCTGGGACAAG -3'
Sequencing Primer
(F):5'- GTGATGATGTAACGCACTCAC -3'
(R):5'- CTGGGACAAGGGAGCTCTG -3'
|
Posted On |
2020-10-20 |