Incidental Mutation 'R5682:Mctp2'
| ID |
443114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
043318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R5682 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 71895207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
[ENSMUST00000079323]
[ENSMUST00000079323]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079323
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
| 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 null
Transcript: ENSMUST00000079323
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
| 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 null
Transcript: ENSMUST00000079323
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,283,723 (GRCm39) |
S7T |
probably benign |
Het |
| Acot4 |
G |
A |
12: 84,085,576 (GRCm39) |
V98M |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,162,774 (GRCm39) |
N41I |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,255,758 (GRCm39) |
N1590I |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,729,347 (GRCm39) |
G714R |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,989,043 (GRCm39) |
D642G |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,914,914 (GRCm39) |
R1848Q |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,081,730 (GRCm39) |
Y141N |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,406 (GRCm39) |
I1N |
probably damaging |
Het |
| Avil |
A |
C |
10: 126,849,973 (GRCm39) |
Q608P |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,406,775 (GRCm39) |
V456A |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,349,940 (GRCm39) |
L635P |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,888,666 (GRCm39) |
Q231* |
probably null |
Het |
| Ccdc162 |
G |
A |
10: 41,432,799 (GRCm39) |
R500* |
probably null |
Het |
| Cdh24 |
T |
C |
14: 54,874,805 (GRCm39) |
D400G |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,361,138 (GRCm39) |
L164P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,579,497 (GRCm39) |
S224P |
possibly damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,097,953 (GRCm39) |
Y371C |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,480 (GRCm39) |
E405V |
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,709,085 (GRCm39) |
M708K |
probably damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,268,429 (GRCm39) |
Y432F |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,800,883 (GRCm39) |
V113E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,067,383 (GRCm39) |
I88T |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,139,330 (GRCm39) |
F406L |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,125,592 (GRCm39) |
Q648* |
probably null |
Het |
| Fam171a1 |
G |
A |
2: 3,227,126 (GRCm39) |
R753Q |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,604 (GRCm39) |
V86E |
probably damaging |
Het |
| Galnt7 |
C |
A |
8: 58,036,967 (GRCm39) |
E141* |
probably null |
Het |
| Garnl3 |
A |
G |
2: 32,944,185 (GRCm39) |
Y125H |
probably damaging |
Het |
| Gnb5 |
A |
G |
9: 75,234,523 (GRCm39) |
D74G |
probably damaging |
Het |
| Grk1 |
A |
T |
8: 13,464,351 (GRCm39) |
I408F |
possibly damaging |
Het |
| Has1 |
A |
T |
17: 18,064,425 (GRCm39) |
W405R |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,104,749 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
A |
5: 100,933,170 (GRCm39) |
M555L |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,714,408 (GRCm39) |
N556S |
possibly damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,968,949 (GRCm39) |
S144P |
probably damaging |
Het |
| Itgb1 |
G |
A |
8: 129,453,549 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
T |
11: 100,640,628 (GRCm39) |
M466K |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,880,737 (GRCm39) |
N565K |
probably damaging |
Het |
| Limk1 |
A |
C |
5: 134,694,059 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
T |
C |
3: 106,639,884 (GRCm39) |
I323T |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,552 (GRCm39) |
E1811G |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,358 (GRCm39) |
I495T |
probably benign |
Het |
| Mpz |
A |
T |
1: 170,986,463 (GRCm39) |
T126S |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,234,768 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,170,474 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,510,155 (GRCm39) |
E47G |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,424 (GRCm39) |
I146V |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,502 (GRCm39) |
K198E |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,081,040 (GRCm39) |
D594G |
probably damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,613 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,865,685 (GRCm39) |
S166T |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
| Prkch |
C |
T |
12: 73,744,724 (GRCm39) |
H246Y |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,413 (GRCm39) |
L562* |
probably null |
Het |
| Rab3ip |
C |
T |
10: 116,743,008 (GRCm39) |
W439* |
probably null |
Het |
| Rasef |
T |
A |
4: 73,659,208 (GRCm39) |
R435* |
probably null |
Het |
| Rnf103 |
C |
T |
6: 71,485,708 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,765 (GRCm39) |
F388L |
probably benign |
Het |
| Sds |
A |
C |
5: 120,621,784 (GRCm39) |
S309R |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,824,847 (GRCm39) |
D736E |
possibly damaging |
Het |
| Sgms2 |
A |
G |
3: 131,118,611 (GRCm39) |
Y291H |
probably damaging |
Het |
| Sgsm3 |
A |
G |
15: 80,895,661 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
T |
A |
2: 130,925,930 (GRCm39) |
I259F |
probably damaging |
Het |
| Sik2 |
G |
A |
9: 50,828,382 (GRCm39) |
P220L |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,551,991 (GRCm39) |
V351A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,016,489 (GRCm39) |
S369P |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,640,919 (GRCm39) |
M649K |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,879 (GRCm39) |
E211G |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,733,207 (GRCm39) |
|
probably null |
Het |
| Tpgs1 |
G |
A |
10: 79,511,421 (GRCm39) |
V188M |
probably damaging |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,355 (GRCm39) |
V190F |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,622 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Wbp11 |
T |
C |
6: 136,791,252 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,031,125 (GRCm39) |
Y134C |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,412,521 (GRCm39) |
C3263* |
probably null |
Het |
| Zc3h12c |
G |
T |
9: 52,037,876 (GRCm39) |
D301E |
probably damaging |
Het |
| Zfp365 |
A |
C |
10: 67,745,637 (GRCm39) |
L47R |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 126,998,200 (GRCm39) |
P412L |
probably 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 |
|
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'- AGGCCCAATGAGATGTCATG -3'
(R):5'- AGCAGTTACTTGCTTGGTCTC -3'
Sequencing Primer
(F):5'- CCCAATGAGATGTCATGTGCCAG -3'
(R):5'- GGTCTCGTATCCCAGTCTCAGATG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation