Incidental Mutation 'R8898:Mctp2'
| ID |
678176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp2
|
| Ensembl Gene |
ENSMUSG00000032776 |
| Gene Name |
multiple C2 domains, transmembrane 2 |
| Synonyms |
LOC244049 |
| MMRRC Submission |
068755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R8898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
71727578-71956356 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71752904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 783
(E783G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079323]
[ENSMUST00000206466]
|
| AlphaFold |
Q5RJH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079323
AA Change: E783G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: E783G
| 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: ENSMUST00000206466
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,001 (GRCm39) |
L988* |
probably null |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,106 (GRCm39) |
F36S |
unknown |
Het |
| Acan |
C |
A |
7: 78,750,101 (GRCm39) |
T1624K |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,613,051 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
T |
C |
10: 81,478,352 (GRCm39) |
I437T |
unknown |
Het |
| Arl4d |
C |
T |
11: 101,557,827 (GRCm39) |
R118W |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,306,721 (GRCm39) |
|
probably benign |
Het |
| Bcan |
T |
C |
3: 87,895,695 (GRCm39) |
T814A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,498 (GRCm39) |
M3171K |
possibly damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,739 (GRCm39) |
S23C |
probably damaging |
Het |
| Chek2 |
A |
T |
5: 111,011,175 (GRCm39) |
K324N |
probably benign |
Het |
| Col12a1 |
C |
T |
9: 79,599,577 (GRCm39) |
V859I |
probably benign |
Het |
| Cyp7b1 |
C |
T |
3: 18,150,788 (GRCm39) |
R317H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,308,941 (GRCm39) |
S1937P |
probably benign |
Het |
| Epb41l1 |
T |
G |
2: 156,335,869 (GRCm39) |
V11G |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,858,822 (GRCm39) |
P3798L |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,596 (GRCm39) |
C157S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,058 (GRCm39) |
Q442R |
probably benign |
Het |
| Gm17019 |
A |
C |
5: 15,081,798 (GRCm39) |
M47R |
possibly damaging |
Het |
| Gpr179 |
C |
A |
11: 97,242,329 (GRCm39) |
E172* |
probably null |
Het |
| Grhl1 |
G |
A |
12: 24,634,945 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
T |
5: 134,226,106 (GRCm39) |
E184V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,766 (GRCm39) |
I813V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,715,379 (GRCm39) |
L385Q |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,376 (GRCm39) |
T726I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,145,206 (GRCm39) |
S916G |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,935,175 (GRCm39) |
F396I |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,899 (GRCm39) |
M633T |
possibly damaging |
Het |
| Klf5 |
T |
A |
14: 99,538,922 (GRCm39) |
F112I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,610 (GRCm39) |
Q2989L |
|
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,859,931 (GRCm39) |
T739A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,355,914 (GRCm39) |
R80* |
probably null |
Het |
| Mill2 |
A |
T |
7: 18,590,489 (GRCm39) |
M190L |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,535,256 (GRCm39) |
N311S |
probably benign |
Het |
| Nanos2 |
A |
T |
7: 18,721,549 (GRCm39) |
D7V |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
C |
3: 151,948,306 (GRCm39) |
N483S |
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,073,288 (GRCm39) |
E185A |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,114,118 (GRCm39) |
Q195K |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,192,957 (GRCm39) |
V272A |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,518,952 (GRCm39) |
P253S |
probably damaging |
Het |
| Pde12 |
G |
A |
14: 26,390,577 (GRCm39) |
S44L |
probably benign |
Het |
| Pde1c |
A |
T |
6: 56,114,371 (GRCm39) |
V514E |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,334 (GRCm39) |
V316D |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,578 (GRCm39) |
I208F |
possibly damaging |
Het |
| Raver2 |
G |
A |
4: 100,964,399 (GRCm39) |
|
probably null |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,018,747 (GRCm39) |
H143L |
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,760,642 (GRCm39) |
I402K |
possibly damaging |
Het |
| Sla2 |
T |
A |
2: 156,717,885 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Smarca2 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
19: 26,608,358 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,911,567 (GRCm39) |
S1448P |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,695,273 (GRCm39) |
R604H |
probably damaging |
Het |
| Speg |
G |
A |
1: 75,365,517 (GRCm39) |
G633S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Syt11 |
T |
C |
3: 88,669,335 (GRCm39) |
M186V |
probably benign |
Het |
| Tex26 |
C |
A |
5: 149,380,369 (GRCm39) |
N133K |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,910 (GRCm39) |
C32R |
probably damaging |
Het |
| Trem1 |
T |
A |
17: 48,544,374 (GRCm39) |
V133E |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,661 (GRCm39) |
M906K |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,159,189 (GRCm39) |
I461K |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,430 (GRCm39) |
C28S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
probably benign |
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 |
|
R8897:Mctp2
|
UTSW |
7 |
71,909,311 (GRCm39) |
start codon destroyed |
probably benign |
0.27 |
|
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'- TCCCCACATCTGTCATGGTG -3'
(R):5'- GGCTTTTATATCTTGCAGTCAATGACC -3'
Sequencing Primer
(F):5'- TGGTGACAAGCCCAAGGGAC -3'
(R):5'- AAAAATGTGGTTGTTTGTTGTCTTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation