Incidental Mutation 'R3810:Trpc4ap'
| ID |
275150 |
| 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 |
040880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R3810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155476197-155534304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155485355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 448
(I448F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000103140]
|
| AlphaFold |
Q9JLV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041059
AA Change: I456F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324
AA Change: I456F
| 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 damaging
Transcript: ENSMUST00000103140
AA Change: I448F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324
AA Change: I448F
| 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: ENSMUST00000146484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152548
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
| Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,757 (GRCm39) |
E182G |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,067,822 (GRCm39) |
Y356C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl35 |
A |
G |
7: 99,119,448 (GRCm39) |
D311G |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
| Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
| Ttc21b |
C |
T |
2: 66,082,577 (GRCm39) |
|
probably null |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
| Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
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 |
|
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 |
|
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'- TGTCAACCTACAGGGCTGAG -3'
(R):5'- CAGCCATGAAGGTCTGACTTTTCC -3'
Sequencing Primer
(F):5'- GGAGCACAGCCTCACAGATATTG -3'
(R):5'- GAAGGTCTGACTTTTCCACTAAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation