Incidental Mutation 'R0013:Mctp2'
| ID |
166161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
69 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71879156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 234
(I234V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079323
AA Change: I234V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: I234V
| 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 |
noncoding transcript
Transcript: ENSMUST00000206976
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
94% (79/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
G |
10: 76,293,346 (GRCm39) |
M156V |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,976,350 (GRCm39) |
E491* |
probably null |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Akt2 |
A |
G |
7: 27,335,483 (GRCm39) |
D284G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,461 (GRCm39) |
M240T |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,127,844 (GRCm39) |
V229A |
probably damaging |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,935,773 (GRCm39) |
T188A |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,734,505 (GRCm39) |
Q86* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,248,952 (GRCm39) |
T878A |
possibly damaging |
Het |
| Clec4b2 |
T |
C |
6: 123,179,108 (GRCm39) |
Y137H |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,405,043 (GRCm39) |
T2500S |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,436,066 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,472,614 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,903,159 (GRCm39) |
C1160R |
possibly damaging |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Faah |
C |
A |
4: 115,861,588 (GRCm39) |
L305F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,507,824 (GRCm39) |
|
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,651,471 (GRCm39) |
N1196K |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,297,631 (GRCm39) |
T312A |
unknown |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm4884 |
T |
C |
7: 40,693,716 (GRCm39) |
S562P |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
C |
A |
4: 133,312,103 (GRCm39) |
P112T |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,650,549 (GRCm39) |
Y816H |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,752 (GRCm39) |
S14T |
probably benign |
Het |
| Htt |
T |
C |
5: 34,977,448 (GRCm39) |
L778P |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,136,971 (GRCm39) |
S716G |
probably damaging |
Het |
| Kcns1 |
G |
T |
2: 164,010,563 (GRCm39) |
D65E |
probably benign |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,144,314 (GRCm39) |
V1523L |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Mpp3 |
C |
A |
11: 101,896,251 (GRCm39) |
R424L |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,270,650 (GRCm39) |
|
probably null |
Het |
| Notch1 |
A |
G |
2: 26,363,830 (GRCm39) |
V868A |
possibly damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,651 (GRCm39) |
I198N |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,172 (GRCm39) |
N198S |
probably damaging |
Het |
| Or1p1 |
T |
A |
11: 74,179,877 (GRCm39) |
I135N |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,610 (GRCm39) |
Y291C |
possibly damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,712 (GRCm39) |
T342A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,062,446 (GRCm39) |
D2524G |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,028 (GRCm39) |
E6* |
probably null |
Het |
| Polq |
T |
C |
16: 36,882,201 (GRCm39) |
F1455S |
possibly damaging |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prkaca |
G |
A |
8: 84,714,932 (GRCm39) |
M119I |
possibly damaging |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Rab11fip4 |
C |
T |
11: 79,580,479 (GRCm39) |
T437M |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,409 (GRCm39) |
M437K |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,686 (GRCm39) |
T323A |
probably damaging |
Het |
| Son |
C |
T |
16: 91,448,550 (GRCm39) |
T37I |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,803,291 (GRCm39) |
I41M |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,907,363 (GRCm39) |
Y120F |
probably damaging |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,569,502 (GRCm39) |
K27130N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,738,096 (GRCm39) |
V4148I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
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 |
|
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 |
|
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'- CCAGCCTCAGAGCATAATGGAAGG -3'
(R):5'- AGGTTCCCCATTCCTGCACAAAG -3'
Sequencing Primer
(F):5'- AGGAATAATTGAGGCAAGTTCAC -3'
(R):5'- CAAAGAGACACTGATCTCCTTGTG -3'
|
| Posted On |
2014-04-10 |
Incidental Mutation