Incidental Mutation 'R7765:Mctp2'
| ID |
628371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
045821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R7765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 71740079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
[ENSMUST00000206466]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably benign
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: ENSMUST00000206466
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
C |
14: 66,297,345 (GRCm39) |
E187G |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,846,555 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
G |
A |
7: 44,559,160 (GRCm39) |
T189M |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,859,644 (GRCm39) |
Y845H |
probably benign |
Het |
| Asb14 |
G |
T |
14: 26,619,718 (GRCm39) |
V55F |
probably benign |
Het |
| Brap |
A |
T |
5: 121,800,192 (GRCm39) |
D71V |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,427,042 (GRCm39) |
F610V |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,231,480 (GRCm39) |
D911A |
|
Het |
| Chn2 |
T |
C |
6: 54,275,137 (GRCm39) |
|
probably null |
Het |
| Cib3 |
A |
G |
8: 72,958,269 (GRCm39) |
F156S |
probably damaging |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,354 (GRCm39) |
G185D |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,738,715 (GRCm39) |
V164D |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,869,879 (GRCm39) |
F405I |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,594 (GRCm39) |
T270A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,775 (GRCm39) |
S4455T |
probably damaging |
Het |
| Efcab8 |
A |
G |
2: 153,685,110 (GRCm39) |
K47R |
|
Het |
| Efhd2 |
T |
C |
4: 141,601,886 (GRCm39) |
E98G |
probably damaging |
Het |
| Fcmr |
T |
A |
1: 130,802,025 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,351,906 (GRCm39) |
E1106D |
probably benign |
Het |
| Gcnt1 |
C |
T |
19: 17,306,723 (GRCm39) |
G334D |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,145,647 (GRCm39) |
F488L |
probably benign |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,436 (GRCm39) |
H140N |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,352,402 (GRCm39) |
F342L |
probably damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,909,288 (GRCm39) |
D105G |
possibly damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif18a |
G |
A |
2: 109,137,285 (GRCm39) |
D506N |
probably benign |
Het |
| Klf17 |
T |
A |
4: 117,617,812 (GRCm39) |
M182L |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,750,215 (GRCm39) |
F2493L |
unknown |
Het |
| Lefty1 |
A |
G |
1: 180,764,112 (GRCm39) |
E84G |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,884,117 (GRCm39) |
L2975R |
possibly damaging |
Het |
| Magea5 |
G |
A |
X: 153,837,174 (GRCm39) |
P73S |
possibly damaging |
Het |
| Mprip |
C |
T |
11: 59,649,047 (GRCm39) |
T917M |
possibly damaging |
Het |
| Myh8 |
T |
A |
11: 67,194,481 (GRCm39) |
I1564N |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,328,105 (GRCm39) |
M1068K |
probably benign |
Het |
| Nr2e1 |
A |
G |
10: 42,450,433 (GRCm39) |
C60R |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,780,254 (GRCm39) |
I29V |
probably benign |
Het |
| Ntsr1 |
T |
A |
2: 180,180,610 (GRCm39) |
H305Q |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,571 (GRCm39) |
E111G |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,612 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,538 (GRCm39) |
I201F |
probably damaging |
Het |
| Pate2 |
A |
C |
9: 35,581,197 (GRCm39) |
E22D |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,158 (GRCm39) |
T209A |
probably damaging |
Het |
| Pdss2 |
C |
T |
10: 43,340,628 (GRCm39) |
S352F |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,900 (GRCm39) |
D27V |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,461,920 (GRCm39) |
S84A |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rad51b |
T |
C |
12: 79,850,044 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,970 (GRCm39) |
V1632A |
possibly damaging |
Het |
| Serpinb3d |
T |
G |
1: 107,007,512 (GRCm39) |
D158A |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 31,008,868 (GRCm39) |
L266P |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,852,873 (GRCm39) |
|
probably null |
Het |
| Stox1 |
C |
T |
10: 62,501,778 (GRCm39) |
V261M |
probably benign |
Het |
| Taf7l2 |
T |
A |
10: 115,949,158 (GRCm39) |
K123* |
probably null |
Het |
| Tll1 |
A |
G |
8: 64,504,483 (GRCm39) |
Y638H |
probably damaging |
Het |
| Tst |
A |
T |
15: 78,289,816 (GRCm39) |
M73K |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,003 (GRCm39) |
V232M |
probably benign |
Het |
| Unk |
T |
A |
11: 115,943,908 (GRCm39) |
V343D |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,039,426 (GRCm39) |
V1302A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,885,234 (GRCm39) |
L1271H |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,413,361 (GRCm39) |
P192L |
probably benign |
Het |
| Zfp995 |
A |
G |
17: 22,100,984 (GRCm39) |
Y38H |
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 |
|
|
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'- TGTGTCAGACTTACCCCAGAG -3'
(R):5'- ACTGTTCGTTTGAGGAAGTCAG -3'
Sequencing Primer
(F):5'- TGTCAGACTTACCCCAGAGTAGAATG -3'
(R):5'- CAAGTTGAGCTAACAGGGTCTTC -3'
|
| Posted On |
2020-03-13 |
Incidental Mutation