Incidental Mutation 'R7822:Mctp2'
| ID |
601935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
045876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7822 (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 71776935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 720
(N720S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
[ENSMUST00000205410]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079323
AA Change: N720S
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: N720S
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
G |
A |
2: 20,885,524 (GRCm39) |
S551L |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,914,571 (GRCm39) |
S1734P |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,582,288 (GRCm39) |
S285T |
possibly damaging |
Het |
| Cadm4 |
A |
G |
7: 24,202,970 (GRCm39) |
D364G |
possibly damaging |
Het |
| Card6 |
T |
A |
15: 5,128,347 (GRCm39) |
K1016N |
possibly damaging |
Het |
| Cdh2 |
G |
T |
18: 16,757,341 (GRCm39) |
N692K |
probably benign |
Het |
| Cep76 |
G |
T |
18: 67,774,219 (GRCm39) |
S9* |
probably null |
Het |
| Cklf |
T |
C |
8: 104,977,729 (GRCm39) |
|
probably null |
Het |
| Ctsa |
T |
C |
2: 164,681,152 (GRCm39) |
*475R |
probably null |
Het |
| Dapk1 |
A |
C |
13: 60,873,715 (GRCm39) |
D406A |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,748,647 (GRCm39) |
V443D |
probably damaging |
Het |
| Dph5 |
C |
T |
3: 115,693,399 (GRCm39) |
Q106* |
probably null |
Het |
| Drg2 |
C |
T |
11: 60,353,026 (GRCm39) |
R220* |
probably null |
Het |
| Efcab8 |
A |
T |
2: 153,652,832 (GRCm39) |
Q509L |
unknown |
Het |
| Efs |
C |
T |
14: 55,154,907 (GRCm39) |
S444N |
probably benign |
Het |
| Evl |
T |
C |
12: 108,614,723 (GRCm39) |
V58A |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,295,730 (GRCm39) |
N34S |
|
Het |
| Gbe1 |
G |
A |
16: 70,230,500 (GRCm39) |
R166H |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,418,785 (GRCm39) |
E516G |
probably damaging |
Het |
| Ghr |
T |
C |
15: 3,487,439 (GRCm39) |
T15A |
probably benign |
Het |
| Gnb4 |
G |
A |
3: 32,650,480 (GRCm39) |
T50M |
probably damaging |
Het |
| Grik3 |
T |
C |
4: 125,550,190 (GRCm39) |
|
probably null |
Het |
| Gstk1 |
T |
C |
6: 42,224,686 (GRCm39) |
Y135H |
probably benign |
Het |
| Gucy2c |
T |
A |
6: 136,685,404 (GRCm39) |
I846F |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,778,835 (GRCm39) |
T321A |
probably benign |
Het |
| Jakmip1 |
A |
T |
5: 37,332,524 (GRCm39) |
N1068I |
probably damaging |
Het |
| Krt36 |
A |
G |
11: 99,994,966 (GRCm39) |
I202T |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,170,070 (GRCm39) |
L741P |
probably damaging |
Het |
| Mmp9 |
A |
T |
2: 164,790,956 (GRCm39) |
K115* |
probably null |
Het |
| Mtf2 |
C |
T |
5: 108,228,743 (GRCm39) |
R20* |
probably null |
Het |
| Mycbp2 |
T |
G |
14: 103,376,851 (GRCm39) |
Q3810P |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,158,454 (GRCm39) |
H802L |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,545,276 (GRCm39) |
N27D |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,181,103 (GRCm39) |
F126L |
probably damaging |
Het |
| Nisch |
C |
G |
14: 30,896,608 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,000,938 (GRCm39) |
S152T |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,180,483 (GRCm39) |
L263P |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,995,759 (GRCm39) |
V922A |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,994 (GRCm39) |
M299K |
probably benign |
Het |
| Or5b105 |
T |
A |
19: 13,080,417 (GRCm39) |
I84F |
probably benign |
Het |
| Or5d45 |
A |
C |
2: 88,153,425 (GRCm39) |
I208S |
probably benign |
Het |
| Pccb |
C |
A |
9: 100,909,137 (GRCm39) |
C144F |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Prdm1 |
A |
G |
10: 44,334,478 (GRCm39) |
V16A |
probably benign |
Het |
| Prr5 |
A |
C |
15: 84,649,933 (GRCm39) |
Y219S |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,824,245 (GRCm39) |
D1743G |
probably benign |
Het |
| Rad21l |
G |
T |
2: 151,497,045 (GRCm39) |
D356E |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,710,793 (GRCm39) |
I322T |
probably damaging |
Het |
| Retreg2 |
C |
A |
1: 75,123,185 (GRCm39) |
P319Q |
possibly damaging |
Het |
| Robo2 |
T |
C |
16: 73,770,059 (GRCm39) |
Y559C |
probably damaging |
Het |
| Ror1 |
T |
C |
4: 100,298,564 (GRCm39) |
Y646H |
probably damaging |
Het |
| Rrp15 |
A |
G |
1: 186,481,373 (GRCm39) |
S45P |
probably benign |
Het |
| Sacs |
G |
C |
14: 61,429,652 (GRCm39) |
K570N |
probably benign |
Het |
| Serpinb8 |
C |
T |
1: 107,534,723 (GRCm39) |
Q265* |
probably null |
Het |
| Sgo2b |
T |
C |
8: 64,380,318 (GRCm39) |
E838G |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,568 (GRCm39) |
R141K |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,208,219 (GRCm39) |
T384N |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,606,033 (GRCm39) |
S547G |
possibly damaging |
Het |
| Tekt5 |
T |
C |
16: 10,200,792 (GRCm39) |
N243S |
possibly damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,819 (GRCm39) |
I492M |
probably benign |
Het |
| Tgm7 |
G |
A |
2: 120,934,421 (GRCm39) |
T157I |
probably benign |
Het |
| Trnp1 |
C |
A |
4: 133,225,350 (GRCm39) |
R140L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,609,777 (GRCm39) |
V15797A |
probably damaging |
Het |
| Ugp2 |
A |
T |
11: 21,283,762 (GRCm39) |
S102T |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,172,299 (GRCm39) |
|
probably null |
Het |
| Vmn1r202 |
T |
A |
13: 22,686,241 (GRCm39) |
I59F |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,988,411 (GRCm39) |
E72G |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,570 (GRCm39) |
T288A |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,553,374 (GRCm39) |
H399Q |
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 |
|
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 |
|
|
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'- TGTGGGATAAAACACAAGTTCTGC -3'
(R):5'- TCATCAGCCACATGAACGAG -3'
Sequencing Primer
(F):5'- CACAAGTTCTGCAAAATGACTTG -3'
(R):5'- CTCTGTAATTGGAAATGCAGTCG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation