Incidental Mutation 'R8897:Mctp2'
| ID |
678100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R8897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to G
at 71909311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079323
AA Change: M1L
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: M1L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,934 (GRCm39) |
L329Q |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,974,009 (GRCm39) |
M331K |
possibly damaging |
Het |
| Ak3 |
T |
C |
19: 29,025,118 (GRCm39) |
S38G |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,665,788 (GRCm39) |
C271S |
possibly damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,494 (GRCm39) |
Y66H |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,729,065 (GRCm39) |
I736L |
probably benign |
Het |
| Arpp19 |
T |
A |
9: 74,963,948 (GRCm39) |
M67K |
possibly damaging |
Het |
| Brf1 |
T |
G |
12: 112,951,589 (GRCm39) |
H130P |
probably damaging |
Het |
| Cacna1s |
C |
G |
1: 136,045,392 (GRCm39) |
T1680S |
probably benign |
Het |
| Cckar |
C |
T |
5: 53,864,583 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,532 (GRCm39) |
K605E |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,867,566 (GRCm39) |
M1409T |
unknown |
Het |
| Ces1h |
C |
T |
8: 94,080,093 (GRCm39) |
V474I |
unknown |
Het |
| Cfap70 |
A |
T |
14: 20,493,669 (GRCm39) |
|
probably null |
Het |
| Ch25h |
G |
A |
19: 34,452,441 (GRCm39) |
T29I |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 48,222,739 (GRCm39) |
T329S |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,315,623 (GRCm39) |
N1139S |
probably damaging |
Het |
| Cyp2j6 |
G |
T |
4: 96,414,087 (GRCm39) |
H393N |
probably benign |
Het |
| Cyp8b1 |
C |
A |
9: 121,745,358 (GRCm39) |
|
probably benign |
Het |
| Dchs2 |
T |
G |
3: 83,036,720 (GRCm39) |
L489R |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,110,098 (GRCm39) |
T1173A |
probably benign |
Het |
| Exoc3l2 |
T |
G |
7: 19,203,931 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
G |
A |
13: 68,732,303 (GRCm39) |
R208H |
probably damaging |
Het |
| Fbxo16 |
C |
A |
14: 65,531,287 (GRCm39) |
R64S |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,339,419 (GRCm39) |
I571F |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,144,602 (GRCm39) |
D129V |
probably damaging |
Het |
| Gm6370 |
A |
G |
5: 146,430,447 (GRCm39) |
T211A |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,116 (GRCm39) |
S220T |
probably benign |
Het |
| Gsta3 |
T |
C |
1: 21,330,370 (GRCm39) |
I124T |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,316,112 (GRCm39) |
I4335V |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,857,809 (GRCm39) |
I279V |
probably benign |
Het |
| Ighv1-13 |
T |
A |
12: 114,594,439 (GRCm39) |
M47K |
unknown |
Het |
| Il22ra2 |
A |
G |
10: 19,507,401 (GRCm39) |
N138S |
probably damaging |
Het |
| Impact |
A |
G |
18: 13,123,551 (GRCm39) |
D298G |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,225,437 (GRCm39) |
N198D |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,279 (GRCm39) |
T327A |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,649,233 (GRCm39) |
N878S |
probably damaging |
Het |
| Lpxn |
T |
A |
19: 12,802,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Lrriq4 |
C |
A |
3: 30,709,807 (GRCm39) |
L384I |
probably damaging |
Het |
| Ltbp4 |
A |
C |
7: 27,026,119 (GRCm39) |
I629S |
probably benign |
Het |
| Lypd5 |
T |
C |
7: 24,051,015 (GRCm39) |
V42A |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,304 (GRCm39) |
S270P |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,137,362 (GRCm39) |
E528K |
possibly damaging |
Het |
| Nes |
T |
A |
3: 87,886,653 (GRCm39) |
H1637Q |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,576 (GRCm39) |
D165G |
probably benign |
Het |
| Or5g25 |
A |
T |
2: 85,478,187 (GRCm39) |
H159Q |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,147 (GRCm39) |
V198I |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,472 (GRCm39) |
M147T |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,642 (GRCm39) |
R454L |
probably benign |
Het |
| Pdss2 |
A |
G |
10: 43,221,663 (GRCm39) |
S192G |
probably damaging |
Het |
| Pld6 |
A |
T |
11: 59,678,382 (GRCm39) |
M27K |
probably benign |
Het |
| Plec |
C |
T |
15: 76,057,598 (GRCm39) |
R4113H |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,467,953 (GRCm39) |
S1379P |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,019,566 (GRCm39) |
H35R |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,453,100 (GRCm39) |
T75A |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,437 (GRCm39) |
L1172P |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,123 (GRCm39) |
S771L |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,585,998 (GRCm39) |
I331T |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,546,002 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
T |
A |
7: 128,354,467 (GRCm39) |
V241D |
probably benign |
Het |
| Sez6l |
C |
A |
5: 112,588,744 (GRCm39) |
Q656H |
possibly damaging |
Het |
| Sh3gl2 |
A |
T |
4: 85,273,597 (GRCm39) |
I50L |
probably benign |
Het |
| Tab2 |
T |
C |
10: 7,786,897 (GRCm39) |
D605G |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,374 (GRCm39) |
V135D |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,534 (GRCm39) |
M234T |
probably benign |
Het |
| Trhr |
C |
A |
15: 44,060,736 (GRCm39) |
D85E |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,552,718 (GRCm39) |
I607V |
probably benign |
Het |
| Trpm4 |
C |
T |
7: 44,960,055 (GRCm39) |
C760Y |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,844,841 (GRCm39) |
V403A |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,817 (GRCm39) |
Y180H |
probably damaging |
Het |
| Unc119b |
C |
T |
5: 115,272,977 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,381,242 (GRCm39) |
D217V |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,767 (GRCm39) |
R268* |
probably null |
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 |
|
|
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 |
|
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'- ACAATGCCTGCAGTGGACAG -3'
(R):5'- TCACTTCTCATTAAGGGATCAAGAG -3'
Sequencing Primer
(F):5'- ATGTAGGATGACTGGGGCCC -3'
(R):5'- CAGAAGTCACTGACGGTT -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation