Incidental Mutation 'R1981:Mctp2'
| ID |
222315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
039993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R1981 (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 71814446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 601
(Q601R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
[ENSMUST00000205410]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079323
AA Change: Q601R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: Q601R
| 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: ENSMUST00000205410
|
| Meta Mutation Damage Score |
0.0897 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
T |
C |
17: 28,204,095 (GRCm39) |
V181A |
probably damaging |
Het |
| Aqp4 |
T |
C |
18: 15,526,608 (GRCm39) |
D291G |
probably damaging |
Het |
| Atad1 |
G |
T |
19: 32,673,210 (GRCm39) |
D224E |
probably benign |
Het |
| Atp1a3 |
T |
G |
7: 24,700,400 (GRCm39) |
E33A |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,754,024 (GRCm39) |
F1100L |
possibly damaging |
Het |
| Car7 |
C |
T |
8: 105,275,009 (GRCm39) |
|
probably benign |
Het |
| Casp8 |
C |
A |
1: 58,868,121 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
T |
10: 60,214,530 (GRCm39) |
L1495H |
probably damaging |
Het |
| Ceacam9 |
T |
G |
7: 16,459,232 (GRCm39) |
L177R |
probably benign |
Het |
| Col16a1 |
C |
G |
4: 129,959,236 (GRCm39) |
P346A |
unknown |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,216 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
T |
C |
5: 137,910,118 (GRCm39) |
S139G |
probably damaging |
Het |
| Dapk2 |
A |
G |
9: 66,176,180 (GRCm39) |
H327R |
probably benign |
Het |
| Ddx19b |
T |
C |
8: 111,735,975 (GRCm39) |
T357A |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,365,151 (GRCm39) |
Y1944H |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,623,755 (GRCm39) |
V6E |
probably damaging |
Het |
| Eipr1 |
T |
C |
12: 28,913,024 (GRCm39) |
Y242H |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,834,778 (GRCm39) |
D7A |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,100,737 (GRCm39) |
D140V |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,045,813 (GRCm39) |
C3944Y |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
| Gcsam |
A |
T |
16: 45,440,337 (GRCm39) |
T127S |
probably damaging |
Het |
| Git2 |
C |
T |
5: 114,887,620 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,969,984 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
G |
7: 125,243,444 (GRCm39) |
L1720P |
possibly damaging |
Het |
| H2-T9 |
T |
A |
17: 36,439,614 (GRCm39) |
D122V |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,220,321 (GRCm39) |
T28A |
probably benign |
Het |
| Igf2r |
G |
A |
17: 12,952,790 (GRCm39) |
Q219* |
probably null |
Het |
| Impdh1 |
T |
A |
6: 29,206,450 (GRCm39) |
D129V |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,808,107 (GRCm39) |
Q1250R |
probably benign |
Het |
| Mansc4 |
T |
A |
6: 146,977,173 (GRCm39) |
I148F |
probably benign |
Het |
| Mast2 |
T |
C |
4: 116,172,037 (GRCm39) |
Y569C |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,846,345 (GRCm39) |
K552* |
probably null |
Het |
| Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
| Myo19 |
A |
T |
11: 84,782,996 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,491,898 (GRCm39) |
F676S |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,801,429 (GRCm39) |
T1876A |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,554,951 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,145,236 (GRCm39) |
Y43C |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,989,764 (GRCm39) |
V1102A |
probably damaging |
Het |
| Nmnat3 |
T |
C |
9: 98,292,352 (GRCm39) |
I199T |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,557 (GRCm39) |
S96P |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,326 (GRCm39) |
V149A |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,899,900 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
T |
G |
19: 11,832,371 (GRCm39) |
Q315H |
possibly damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
| Or5bw2 |
A |
G |
7: 6,573,557 (GRCm39) |
D189G |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,931 (GRCm39) |
M75V |
probably benign |
Het |
| Or8b3 |
T |
C |
9: 38,315,031 (GRCm39) |
L287P |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,486 (GRCm39) |
I208N |
possibly damaging |
Het |
| Pax2 |
G |
A |
19: 44,806,904 (GRCm39) |
D301N |
probably damaging |
Het |
| Pcsk4 |
T |
A |
10: 80,161,613 (GRCm39) |
E176V |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,284 (GRCm39) |
P3675S |
probably benign |
Het |
| Plekho2 |
A |
T |
9: 65,465,974 (GRCm39) |
L138Q |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
| Prr11 |
T |
A |
11: 86,994,116 (GRCm39) |
D100V |
probably damaging |
Het |
| Qars1 |
A |
G |
9: 108,392,227 (GRCm39) |
N136D |
probably damaging |
Het |
| Rbm15b |
A |
G |
9: 106,758,822 (GRCm39) |
|
probably benign |
Het |
| Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
| Rsrc1 |
A |
G |
3: 67,257,338 (GRCm39) |
D250G |
probably benign |
Het |
| Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
| Scn2a |
C |
A |
2: 65,520,514 (GRCm39) |
N503K |
probably damaging |
Het |
| Sh2d6 |
G |
A |
6: 72,494,527 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,976,157 (GRCm39) |
T475A |
probably benign |
Het |
| Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
| Tbx20 |
T |
A |
9: 24,682,209 (GRCm39) |
K48N |
possibly damaging |
Het |
| Tead1 |
C |
A |
7: 112,490,952 (GRCm39) |
D231E |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,603 (GRCm39) |
F1111L |
probably damaging |
Het |
| Tlr11 |
T |
A |
14: 50,599,445 (GRCm39) |
I477K |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,440,926 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
| Usp15 |
T |
A |
10: 122,960,946 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
A |
G |
6: 121,229,476 (GRCm39) |
K32E |
probably benign |
Het |
| Vmn1r12 |
A |
T |
6: 57,136,646 (GRCm39) |
M248L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,680,824 (GRCm39) |
L172H |
probably damaging |
Het |
| Zfp976 |
G |
A |
7: 42,263,046 (GRCm39) |
H264Y |
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 |
|
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'- ACACTGATCTGAGTCTGAACAGG -3'
(R):5'- GTGCCTGAGTAATATTTTCTTCACCTG -3'
Sequencing Primer
(F):5'- TCTGAGTCTGAACAGGCTGAGC -3'
(R):5'- GCTATTGAAAACACACAGATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation