Incidental Mutation 'R8527:Trpc4ap'
| ID |
658841 |
| 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 |
067952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R8527 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155476197-155534304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 155534132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 32
(P32R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000103140]
|
| AlphaFold |
Q9JLV2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000041059
AA Change: P32R
|
| SMART Domains |
Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324
AA Change: P32R
| 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 |
unknown
Transcript: ENSMUST00000103140
AA Change: P32R
|
| SMART Domains |
Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324
AA Change: P32R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,349,047 (GRCm39) |
|
probably null |
Het |
| Acsl5 |
A |
G |
19: 55,280,259 (GRCm39) |
T511A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,589,353 (GRCm39) |
I191V |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,428,385 (GRCm39) |
Q254R |
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,908,944 (GRCm39) |
L661Q |
possibly damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,055,129 (GRCm39) |
|
probably benign |
Het |
| Braf |
T |
C |
6: 39,604,693 (GRCm39) |
H592R |
probably benign |
Het |
| Ceacam2 |
T |
A |
7: 25,238,155 (GRCm39) |
I90L |
probably benign |
Het |
| Dgcr6 |
T |
C |
16: 17,887,390 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
C |
6: 115,791,535 (GRCm39) |
I546V |
probably benign |
Het |
| Eya1 |
G |
T |
1: 14,322,672 (GRCm39) |
A268E |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,515,790 (GRCm39) |
I661V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,174,055 (GRCm39) |
M240L |
possibly damaging |
Het |
| Gm12689 |
A |
G |
4: 99,184,450 (GRCm39) |
D101G |
unknown |
Het |
| Kctd2 |
G |
T |
11: 115,320,310 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,533,512 (GRCm39) |
M534L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,396,495 (GRCm39) |
V267D |
possibly damaging |
Het |
| Lca5l |
C |
A |
16: 95,960,438 (GRCm39) |
G675C |
probably damaging |
Het |
| Lmod1 |
T |
C |
1: 135,292,221 (GRCm39) |
F359L |
possibly damaging |
Het |
| Lonrf1 |
G |
T |
8: 36,686,986 (GRCm39) |
N783K |
possibly damaging |
Het |
| Megf10 |
T |
C |
18: 57,425,790 (GRCm39) |
S1059P |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,634 (GRCm39) |
E154G |
probably benign |
Het |
| Mtus2 |
A |
C |
5: 148,240,408 (GRCm39) |
K85T |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,048,570 (GRCm39) |
H586R |
probably damaging |
Het |
| Noc2l |
A |
G |
4: 156,326,187 (GRCm39) |
T425A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,196 (GRCm39) |
Q376L |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,570,071 (GRCm39) |
Y272N |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,168,785 (GRCm39) |
D64E |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,315,099 (GRCm39) |
N417K |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,754 (GRCm39) |
D369G |
probably damaging |
Het |
| Scn3a |
G |
T |
2: 65,327,863 (GRCm39) |
H876N |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,566,401 (GRCm39) |
S111P |
probably damaging |
Het |
| Smarca2 |
G |
C |
19: 26,654,187 (GRCm39) |
V791L |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,940,224 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,807,834 (GRCm39) |
E1288G |
probably damaging |
Het |
| Tex52 |
G |
A |
6: 128,356,828 (GRCm39) |
V174I |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,088,937 (GRCm39) |
G660W |
probably damaging |
Het |
| Tmem121b |
T |
C |
6: 120,469,055 (GRCm39) |
E554G |
probably damaging |
Het |
| Tmem209 |
C |
A |
6: 30,497,237 (GRCm39) |
V318F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,907,634 (GRCm39) |
E1226G |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,876,851 (GRCm39) |
I196F |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,410,787 (GRCm39) |
K206R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,433,971 (GRCm39) |
E2254G |
unknown |
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 |
|
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 |
|
|
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'- GCTTAGACGCGCCATCAATAC -3'
(R):5'- ACAGTTCCCATAAGGCGTCG -3'
Sequencing Primer
(F):5'- AGGCAGCTCGACTCCACTC -3'
(R):5'- TCCACTAGGGGCGATGTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation