Incidental Mutation 'R0057:Trpc4ap'
| ID |
64371 |
| 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 |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
149 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155476197-155534304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155482406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 528
(E528G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000103140]
|
| AlphaFold |
Q9JLV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041059
AA Change: E528G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324
AA Change: E528G
| 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 |
possibly damaging
Transcript: ENSMUST00000103140
AA Change: E520G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324
AA Change: E520G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153246
|
| Meta Mutation Damage Score |
0.0902 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
| Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,156,874 (GRCm39) |
H7R |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
| Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,528,824 (GRCm39) |
V23L |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,440,958 (GRCm39) |
M1096K |
probably benign |
Het |
| Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,383,354 (GRCm39) |
T298A |
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,764,119 (GRCm39) |
C242R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
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 |
|
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 |
|
R6539:Trpc4ap
|
UTSW |
2 |
155,478,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AGTGACAGCCTGATGATCACCTACC -3'
(R):5'- TCCTTGCAGACTCAGACATTGCC -3'
Sequencing Primer
(F):5'- TACCTCCTAAAATACCCTGCTGG -3'
(R):5'- AGACTCAGACATTGCCTGTTC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation