Incidental Mutation 'R6539:Trpc4ap'
| ID |
543481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpc4ap
|
| Ensembl Gene |
ENSMUSG00000038324 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 4 associated protein |
| Synonyms |
Trrp4ap, 4833429F06Rik, Trp4-associated protein TAP1, D2Ertd113e |
| MMRRC Submission |
044665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R6539 (G1)
|
| Quality Score |
46.0072 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155476197-155534304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155478178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 663
(P663T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000103140]
|
| AlphaFold |
Q9JLV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041059
AA Change: P663T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324
AA Change: P663T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF3689
|
407 |
714 |
5.2e-135 |
PFAM |
|
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103140
AA Change: P655T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324
AA Change: P655T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF3689
|
399 |
710 |
1.1e-138 |
PFAM |
|
low complexity region
|
716 |
727 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0745 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,272,616 (GRCm39) |
A513V |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,127 (GRCm39) |
D147G |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,913,924 (GRCm39) |
D649G |
probably damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,251,606 (GRCm39) |
I329V |
probably benign |
Het |
| Card6 |
T |
A |
15: 5,134,873 (GRCm39) |
N110I |
probably damaging |
Het |
| Cfap410 |
A |
G |
10: 77,820,322 (GRCm39) |
T231A |
probably benign |
Het |
| Chn2 |
T |
A |
6: 54,150,446 (GRCm39) |
|
probably null |
Het |
| Cyp46a1 |
G |
A |
12: 108,319,416 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
A |
17: 49,776,739 (GRCm39) |
H782L |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,262 (GRCm39) |
I22V |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,245 (GRCm39) |
M278V |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,159,478 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
A |
2: 24,694,779 (GRCm39) |
H1056L |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,040,218 (GRCm39) |
D527N |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,515,186 (GRCm39) |
K1079E |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,592,206 (GRCm39) |
G231R |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,214,358 (GRCm39) |
|
probably benign |
Het |
| Ifrd1 |
G |
A |
12: 40,253,434 (GRCm39) |
A426V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,313,643 (GRCm39) |
L1358P |
possibly damaging |
Het |
| Igkv5-37 |
A |
T |
6: 69,940,800 (GRCm39) |
S16T |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,778,966 (GRCm39) |
L449P |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,986,863 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
T |
6: 60,964,168 (GRCm39) |
T1056S |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,935,056 (GRCm39) |
H164Y |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,548,621 (GRCm39) |
T5891A |
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,021,565 (GRCm39) |
E62G |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,789 (GRCm38) |
V475D |
possibly damaging |
Het |
| Or4c101 |
T |
C |
2: 88,389,864 (GRCm39) |
F6S |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,114 (GRCm39) |
S106R |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
| Parvg |
T |
A |
15: 84,225,541 (GRCm39) |
D349E |
probably damaging |
Het |
| Pitpna |
A |
G |
11: 75,489,127 (GRCm39) |
Y58C |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,168,503 (GRCm39) |
D73E |
probably benign |
Het |
| Preb |
A |
G |
5: 31,113,420 (GRCm39) |
V338A |
probably benign |
Het |
| Sec23a |
T |
C |
12: 59,031,998 (GRCm39) |
T411A |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,347,011 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
A |
G |
16: 36,950,177 (GRCm39) |
M1056T |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,447,813 (GRCm39) |
|
probably null |
Het |
| Tent5a |
T |
C |
9: 85,208,614 (GRCm39) |
I70V |
possibly damaging |
Het |
| Tpx2 |
G |
T |
2: 152,718,518 (GRCm39) |
E174* |
probably null |
Het |
| Unc5cl |
G |
A |
17: 48,772,045 (GRCm39) |
G441D |
probably damaging |
Het |
| Xrcc2 |
G |
T |
5: 25,897,530 (GRCm39) |
R140S |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,247,907 (GRCm39) |
E1037K |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,309,168 (GRCm39) |
Q798L |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,716 (GRCm39) |
T236M |
probably damaging |
Het |
|
| Other mutations in Trpc4ap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Trpc4ap
|
APN |
2 |
155,481,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02149:Trpc4ap
|
APN |
2 |
155,481,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02313:Trpc4ap
|
APN |
2 |
155,492,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Trpc4ap
|
APN |
2 |
155,512,989 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0057:Trpc4ap
|
UTSW |
2 |
155,482,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0057:Trpc4ap
|
UTSW |
2 |
155,482,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0255:Trpc4ap
|
UTSW |
2 |
155,499,866 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Trpc4ap
|
UTSW |
2 |
155,478,180 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0382:Trpc4ap
|
UTSW |
2 |
155,478,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Trpc4ap
|
UTSW |
2 |
155,482,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1184:Trpc4ap
|
UTSW |
2 |
155,486,990 (GRCm39) |
splice site |
probably benign |
|
|
R1711:Trpc4ap
|
UTSW |
2 |
155,499,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2113:Trpc4ap
|
UTSW |
2 |
155,499,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3810:Trpc4ap
|
UTSW |
2 |
155,485,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Trpc4ap
|
UTSW |
2 |
155,482,427 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4664:Trpc4ap
|
UTSW |
2 |
155,514,917 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4690:Trpc4ap
|
UTSW |
2 |
155,477,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5347:Trpc4ap
|
UTSW |
2 |
155,514,908 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5655:Trpc4ap
|
UTSW |
2 |
155,495,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5689:Trpc4ap
|
UTSW |
2 |
155,512,955 (GRCm39) |
splice site |
probably null |
|
|
R5828:Trpc4ap
|
UTSW |
2 |
155,477,130 (GRCm39) |
intron |
probably benign |
|
|
R5894:Trpc4ap
|
UTSW |
2 |
155,508,133 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6056:Trpc4ap
|
UTSW |
2 |
155,512,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Trpc4ap
|
UTSW |
2 |
155,505,627 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6682:Trpc4ap
|
UTSW |
2 |
155,479,687 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7022:Trpc4ap
|
UTSW |
2 |
155,499,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7031:Trpc4ap
|
UTSW |
2 |
155,534,135 (GRCm39) |
missense |
unknown |
|
|
R8527:Trpc4ap
|
UTSW |
2 |
155,534,132 (GRCm39) |
missense |
unknown |
|
|
R8542:Trpc4ap
|
UTSW |
2 |
155,534,132 (GRCm39) |
missense |
unknown |
|
|
R8687:Trpc4ap
|
UTSW |
2 |
155,477,170 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8955:Trpc4ap
|
UTSW |
2 |
155,508,171 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0018:Trpc4ap
|
UTSW |
2 |
155,495,484 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGGAAGAACTGTTTCCAGAAAG -3'
(R):5'- ATTGCATACGCTGAAGAGCC -3'
Sequencing Primer
(F):5'- TTTCCAGAAAGGGAGGAAACCC -3'
(R):5'- TGAAGAGCCACCGTTGTAGGTC -3'
|
| Posted On |
2019-01-16 |
Incidental Mutation