Incidental Mutation 'R7386:Trpm4'
| ID |
573089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpm4
|
| Ensembl Gene |
ENSMUSG00000038260 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 4 |
| Synonyms |
1110030C19Rik, TRPM4B, LTRPC4 |
| MMRRC Submission |
045468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R7386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44952579-44983495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44964064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 722
(L722H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042194]
[ENSMUST00000211431]
[ENSMUST00000211743]
|
| AlphaFold |
Q7TN37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042194
AA Change: L722H
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: L722H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
SCOP:d1awcb_
|
378 |
465 |
2e-3 |
SMART |
|
low complexity region
|
600 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
637 |
645 |
N/A |
INTRINSIC |
|
transmembrane domain
|
688 |
710 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
781 |
1051 |
1.8e-13 |
PFAM |
|
low complexity region
|
1089 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1191 |
1208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211743
AA Change: L575H
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display increased Ca2+ influx and IgE-dependent mast cell activation, increased vascular permeability, and enhanced acute anaphylactic responses. Mice homozygous for a different knock-out allele show Ca2+ overload and impaired dendritic cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,208 (GRCm39) |
M2K |
unknown |
Het |
| Ablim3 |
T |
C |
18: 61,955,065 (GRCm39) |
D308G |
probably damaging |
Het |
| Adamts17 |
A |
T |
7: 66,618,597 (GRCm39) |
K370N |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,784 (GRCm39) |
Y435C |
probably damaging |
Het |
| Adgb |
A |
T |
10: 10,253,693 (GRCm39) |
F1216I |
possibly damaging |
Het |
| Akr1a1 |
G |
A |
4: 116,498,251 (GRCm39) |
T98I |
probably damaging |
Het |
| Alyref2 |
G |
T |
1: 171,331,101 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,658,079 (GRCm39) |
H168Q |
unknown |
Het |
| Bnc1 |
A |
C |
7: 81,624,240 (GRCm39) |
L329R |
possibly damaging |
Het |
| Btaf1 |
G |
A |
19: 36,935,782 (GRCm39) |
A191T |
probably benign |
Het |
| Carmil3 |
T |
G |
14: 55,735,204 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
C |
A |
16: 44,610,211 (GRCm39) |
D143E |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,699,507 (GRCm39) |
H98R |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,205,831 (GRCm39) |
Q3346L |
probably damaging |
Het |
| Cpne4 |
T |
A |
9: 104,749,939 (GRCm39) |
V81E |
possibly damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Ctsj |
A |
T |
13: 61,148,373 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ddhd2 |
G |
T |
8: 26,244,318 (GRCm39) |
R103S |
possibly damaging |
Het |
| Depdc5 |
A |
G |
5: 33,085,280 (GRCm39) |
T700A |
probably benign |
Het |
| Dhx57 |
A |
C |
17: 80,575,006 (GRCm39) |
D657E |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,713,965 (GRCm39) |
G1678S |
unknown |
Het |
| Dnajb1 |
A |
G |
8: 84,336,932 (GRCm39) |
D234G |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,174,983 (GRCm39) |
V431M |
possibly damaging |
Het |
| Evi5 |
C |
A |
5: 107,957,689 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
T |
C |
13: 31,090,646 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
T |
C |
10: 42,073,356 (GRCm39) |
D387G |
probably benign |
Het |
| Gda |
A |
G |
19: 21,387,250 (GRCm39) |
I325T |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,375,790 (GRCm39) |
S1362P |
probably damaging |
Het |
| Klf10 |
G |
T |
15: 38,297,193 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,375,723 (GRCm39) |
Y35H |
probably damaging |
Het |
| Mill2 |
A |
G |
7: 18,592,215 (GRCm39) |
T279A |
probably benign |
Het |
| Ncaph2 |
G |
A |
15: 89,254,459 (GRCm39) |
W386* |
probably null |
Het |
| Nploc4 |
A |
T |
11: 120,299,707 (GRCm39) |
S338T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,775 (GRCm39) |
S261G |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,227 (GRCm39) |
F183S |
possibly damaging |
Het |
| Or5al1 |
A |
G |
2: 85,989,874 (GRCm39) |
V280A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,677 (GRCm39) |
M1K |
probably null |
Het |
| Palld |
A |
G |
8: 61,985,086 (GRCm39) |
F1060L |
unknown |
Het |
| Pfas |
C |
G |
11: 68,894,600 (GRCm39) |
V22L |
probably benign |
Het |
| Pygo2 |
T |
G |
3: 89,340,128 (GRCm39) |
F175L |
probably benign |
Het |
| Rnf2 |
T |
C |
1: 151,347,131 (GRCm39) |
E316G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,657,772 (GRCm39) |
M642K |
probably damaging |
Het |
| Saa3 |
A |
G |
7: 46,364,347 (GRCm39) |
C60R |
unknown |
Het |
| Saxo5 |
A |
G |
8: 3,537,079 (GRCm39) |
K475R |
probably benign |
Het |
| Scap |
A |
G |
9: 110,202,237 (GRCm39) |
T202A |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,370,894 (GRCm39) |
D562V |
probably damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,010 (GRCm39) |
V163E |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,539 (GRCm39) |
H850Y |
possibly damaging |
Het |
| Spef1l |
A |
T |
7: 139,555,965 (GRCm39) |
C225* |
probably null |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,908,585 (GRCm39) |
Y533H |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,893,412 (GRCm39) |
S923P |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,640,990 (GRCm39) |
K1054E |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,612,780 (GRCm39) |
C313S |
probably benign |
Het |
| Top6bl |
G |
A |
19: 4,713,586 (GRCm39) |
R285* |
probably null |
Het |
| Tpm1 |
T |
C |
9: 66,935,449 (GRCm39) |
I284M |
probably benign |
Het |
| Trub2 |
T |
G |
2: 29,676,607 (GRCm39) |
Q41P |
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,514 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
G |
A |
6: 47,835,884 (GRCm39) |
V148I |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,981 (GRCm39) |
E202G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,013,622 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
A |
7: 6,308,949 (GRCm39) |
I539N |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,818,369 (GRCm39) |
C541S |
probably damaging |
Het |
|
| Other mutations in Trpm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Trpm4
|
APN |
7 |
44,967,773 (GRCm39) |
missense |
probably benign |
|
|
IGL01327:Trpm4
|
APN |
7 |
44,964,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02069:Trpm4
|
APN |
7 |
44,968,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02124:Trpm4
|
APN |
7 |
44,959,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Trpm4
|
APN |
7 |
44,967,603 (GRCm39) |
splice site |
probably null |
|
|
IGL02333:Trpm4
|
APN |
7 |
44,971,539 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02338:Trpm4
|
APN |
7 |
44,976,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Trpm4
|
APN |
7 |
44,967,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0041:Trpm4
|
UTSW |
7 |
44,954,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0106:Trpm4
|
UTSW |
7 |
44,968,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0270:Trpm4
|
UTSW |
7 |
44,968,677 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0279:Trpm4
|
UTSW |
7 |
44,971,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0309:Trpm4
|
UTSW |
7 |
44,958,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Trpm4
|
UTSW |
7 |
44,954,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0969:Trpm4
|
UTSW |
7 |
44,977,331 (GRCm39) |
intron |
probably benign |
|
|
R1454:Trpm4
|
UTSW |
7 |
44,966,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Trpm4
|
UTSW |
7 |
44,964,468 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1579:Trpm4
|
UTSW |
7 |
44,958,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Trpm4
|
UTSW |
7 |
44,958,036 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2847:Trpm4
|
UTSW |
7 |
44,960,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Trpm4
|
UTSW |
7 |
44,971,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3884:Trpm4
|
UTSW |
7 |
44,971,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4895:Trpm4
|
UTSW |
7 |
44,967,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5056:Trpm4
|
UTSW |
7 |
44,958,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5060:Trpm4
|
UTSW |
7 |
44,971,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Trpm4
|
UTSW |
7 |
44,959,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Trpm4
|
UTSW |
7 |
44,959,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Trpm4
|
UTSW |
7 |
44,959,813 (GRCm39) |
missense |
probably benign |
|
|
R5874:Trpm4
|
UTSW |
7 |
44,977,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Trpm4
|
UTSW |
7 |
44,976,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Trpm4
|
UTSW |
7 |
44,977,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6431:Trpm4
|
UTSW |
7 |
44,975,992 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6762:Trpm4
|
UTSW |
7 |
44,954,240 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6827:Trpm4
|
UTSW |
7 |
44,968,052 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6845:Trpm4
|
UTSW |
7 |
44,971,753 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6950:Trpm4
|
UTSW |
7 |
44,968,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7126:Trpm4
|
UTSW |
7 |
44,960,133 (GRCm39) |
splice site |
probably null |
|
|
R7159:Trpm4
|
UTSW |
7 |
44,976,692 (GRCm39) |
splice site |
probably null |
|
|
R7167:Trpm4
|
UTSW |
7 |
44,977,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7516:Trpm4
|
UTSW |
7 |
44,954,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Trpm4
|
UTSW |
7 |
44,971,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7656:Trpm4
|
UTSW |
7 |
44,971,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7743:Trpm4
|
UTSW |
7 |
44,957,762 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7943:Trpm4
|
UTSW |
7 |
44,958,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7955:Trpm4
|
UTSW |
7 |
44,968,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8060:Trpm4
|
UTSW |
7 |
44,954,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Trpm4
|
UTSW |
7 |
44,976,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Trpm4
|
UTSW |
7 |
44,954,758 (GRCm39) |
missense |
probably benign |
|
|
R8395:Trpm4
|
UTSW |
7 |
44,958,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8509:Trpm4
|
UTSW |
7 |
44,971,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Trpm4
|
UTSW |
7 |
44,960,055 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9577:Trpm4
|
UTSW |
7 |
44,954,432 (GRCm39) |
nonsense |
probably null |
|
|
R9674:Trpm4
|
UTSW |
7 |
44,982,811 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9731:Trpm4
|
UTSW |
7 |
44,958,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0018:Trpm4
|
UTSW |
7 |
44,964,058 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
X0022:Trpm4
|
UTSW |
7 |
44,959,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trpm4
|
UTSW |
7 |
44,976,142 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGCTCCCCTAGTTCAGG -3'
(R):5'- TTCCCTTCTCTGGAGGGAATG -3'
Sequencing Primer
(F):5'- AGTTCAGGACTTGCTACAGTGCC -3'
(R):5'- CCCTTCTCTGGAGGGAATGTTCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation