Mutagenetix > Incidental Mutation

Incidental Mutation 'R9674:Trpm4'

728229

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R9674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44952579-44983495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44982811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 30 (D30E)

Ref Sequence

ENSEMBL: ENSMUSP00000040367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042194] [ENSMUST00000085351] [ENSMUST00000210541] [ENSMUST00000211327] [ENSMUST00000211431] [ENSMUST00000211743]

AlphaFold

Q7TN37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042194
AA Change: D30E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260
AA Change: D30E

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: ENSMUST00000085351

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
internal_repeat_1	51	146	8.76e-11	PROSPERO
low complexity region	154	189	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	213	225	1e-4	PFAM
low complexity region	240	254	N/A	INTRINSIC
low complexity region	260	274	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	308	324	2.2e-8	PFAM
low complexity region	340	353	N/A	INTRINSIC
low complexity region	362	382	N/A	INTRINSIC
internal_repeat_1	399	490	8.76e-11	PROSPERO
coiled coil region	536	565	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
coiled coil region	594	621	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210541
AA Change: D30E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211431
AA Change: D30E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000211743
AA Change: M2K

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,472 (GRCm39)	D25V	possibly damaging	Het
Abca16	A	G	7: 120,074,668 (GRCm39)		probably null	Het
Adam9	T	A	8: 25,441,014 (GRCm39)	T820S	possibly damaging	Het
Adamts6	G	A	13: 104,563,448 (GRCm39)	V647I	probably benign	Het
Afap1l2	T	A	19: 56,922,195 (GRCm39)	R14S	probably damaging	Het
Aff3	C	T	1: 38,248,864 (GRCm39)	V748I	probably damaging	Het
Aldh5a1	T	C	13: 25,110,038 (GRCm39)	I166V	probably benign	Het
Alx4	G	T	2: 93,507,858 (GRCm39)	L384F	probably damaging	Het
Ank3	T	A	10: 69,824,549 (GRCm39)	S1073T		Het
Ankrd50	A	G	3: 38,506,574 (GRCm39)	C275R	unknown	Het
Apol11a	G	A	15: 77,401,347 (GRCm39)	S278N	possibly damaging	Het
Astn2	T	A	4: 65,460,963 (GRCm39)	D1057V	probably damaging	Het
Atp11a	T	C	8: 12,877,525 (GRCm39)	V317A	probably benign	Het
Cacna1i	A	G	15: 80,264,629 (GRCm39)	T1486A	probably damaging	Het
Cadps	A	G	14: 12,454,291 (GRCm38)	F1076L	probably damaging	Het
Cct6b	T	C	11: 82,645,838 (GRCm39)	T154A	probably damaging	Het
Cfap69	A	G	5: 5,697,021 (GRCm39)	F92L	possibly damaging	Het
Cyp19a1	A	T	9: 54,074,141 (GRCm39)	I471K	possibly damaging	Het
Cyp26a1	T	A	19: 37,689,726 (GRCm39)	M474K	probably damaging	Het
Cyp4a12a	T	C	4: 115,186,156 (GRCm39)	S439P	probably benign	Het
Cyp4f37	T	A	17: 32,846,841 (GRCm39)		probably null	Het
Dgki	A	G	6: 37,027,157 (GRCm39)	Y395H	probably damaging	Het
Dlg1	T	C	16: 31,610,580 (GRCm39)	V287A	probably damaging	Het
Dlx2	C	T	2: 71,376,496 (GRCm39)	G81S	possibly damaging	Het
Dnah8	G	T	17: 30,998,112 (GRCm39)	K3448N	possibly damaging	Het
Dnhd1	C	T	7: 105,363,429 (GRCm39)	P3997L	probably damaging	Het
Drosha	C	G	15: 12,890,170 (GRCm39)	D910E	probably damaging	Het
Dscam	A	G	16: 96,442,036 (GRCm39)	V1597A	probably benign	Het
Eif1b	A	G	9: 120,323,265 (GRCm39)	K42E	possibly damaging	Het
Enpp2	C	A	15: 54,816,135 (GRCm39)	G10W	unknown	Het
Exd2	A	G	12: 80,536,372 (GRCm39)	N334S	probably benign	Het
Glt6d1	T	A	2: 25,684,382 (GRCm39)	N208I	probably benign	Het
Grin2a	T	A	16: 9,471,265 (GRCm39)	K668*	probably null	Het
Grm1	A	G	10: 10,609,028 (GRCm39)	V535A	possibly damaging	Het
H2ac7	A	G	13: 23,758,862 (GRCm39)	D73G	possibly damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Ighm	T	A	12: 113,385,139 (GRCm39)	I274F		Het
Ighv1-58	G	T	12: 115,275,847 (GRCm39)	T97K	probably damaging	Het
Igkv6-20	T	C	6: 70,312,852 (GRCm39)	H107R	possibly damaging	Het
Il15	C	T	8: 83,069,938 (GRCm39)	G42D	probably damaging	Het
Jakmip2	T	A	18: 43,704,961 (GRCm39)	M347L	probably benign	Het
Kcnh7	T	C	2: 62,595,060 (GRCm39)	Y670C	probably damaging	Het
Ktn1	G	C	14: 47,922,213 (GRCm39)	C458S	possibly damaging	Het
Lama5	C	T	2: 179,840,267 (GRCm39)		probably null	Het
Lce1i	T	C	3: 92,685,113 (GRCm39)	Q21R	unknown	Het
Lmo7	A	T	14: 102,078,340 (GRCm39)	E81D	probably damaging	Het
Lrrc4b	A	T	7: 44,111,852 (GRCm39)	I575F	probably damaging	Het
Mmrn1	C	T	6: 60,948,072 (GRCm39)	Q272*	probably null	Het
Nbea	A	T	3: 55,966,183 (GRCm39)	D426E	probably damaging	Het
Neto1	G	A	18: 86,491,827 (GRCm39)	V243M	probably damaging	Het
Notch1	G	A	2: 26,361,308 (GRCm39)	R1061C	probably damaging	Het
Or5g25	T	G	2: 85,478,593 (GRCm39)	Q24P	possibly damaging	Het
Or5p67	A	T	7: 107,922,271 (GRCm39)	I204N	probably benign	Het
Osgin1	A	G	8: 120,172,499 (GRCm39)	D431G	possibly damaging	Het
Ppp4r1	A	G	17: 66,140,127 (GRCm39)	D675G	probably damaging	Het
Pramel25	T	A	4: 143,520,162 (GRCm39)	H135Q	probably benign	Het
Prkdc	T	A	16: 15,533,819 (GRCm39)	H1552Q	probably damaging	Het
Rbfox1	T	C	16: 7,170,885 (GRCm39)	F282L	probably benign	Het
Ret	T	C	6: 118,130,830 (GRCm39)	D1111G	probably damaging	Het
Rnf224	A	T	2: 25,126,330 (GRCm39)	Y8N	probably benign	Het
Rtl1	G	T	12: 109,559,024 (GRCm39)	H938Q	possibly damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Sema3f	A	T	9: 107,566,947 (GRCm39)	L194Q	possibly damaging	Het
Sfmbt1	C	T	14: 30,495,851 (GRCm39)	R45C	probably damaging	Het
Slc7a4	T	C	16: 17,392,208 (GRCm39)	I409V	probably benign	Het
Slco6c1	T	A	1: 97,047,565 (GRCm39)	D246V	probably damaging	Het
Smap2	C	T	4: 120,826,745 (GRCm39)	M426I	probably benign	Het
Spata31h1	C	T	10: 82,120,030 (GRCm39)	V4327I	possibly damaging	Het
Tmem184b	T	A	15: 79,249,524 (GRCm39)	T315S	probably benign	Het
Ttc7b	T	A	12: 100,432,553 (GRCm39)	K154N	probably benign	Het
Vps13b	T	A	15: 35,607,380 (GRCm39)	H1104Q	probably damaging	Het
Wnk4	T	A	11: 101,166,874 (GRCm39)	L1010Q	unknown	Het
Xpo6	T	A	7: 125,723,700 (GRCm39)	H537L	probably benign	Het
Xrn1	A	T	9: 95,855,645 (GRCm39)	Y314F	probably damaging	Het
Xrn1	A	T	9: 95,855,647 (GRCm39)	I315F	possibly damaging	Het
Zap70	T	C	1: 36,810,150 (GRCm39)	Y87H	probably benign	Het
Zbtb4	T	C	11: 69,669,973 (GRCm39)	Y899H	probably damaging	Het
Zcchc7	T	A	4: 44,931,418 (GRCm39)	H202Q	possibly damaging	Het
Zeb2	A	G	2: 44,891,725 (GRCm39)	Y276H	probably damaging	Het
Zfp867	T	G	11: 59,355,850 (GRCm39)	Q68P	probably benign	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
R7386:Trpm4	UTSW	7	44,964,064 (GRCm39)	missense	possibly damaging	0.47
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
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'- TGTGTCTGTGCACCAAGACC -3'
(R):5'- GGAAATACACGGAGCCTCAG -3'

Sequencing Primer
(F):5'- TGTGCACCAAGACCTCCTG -3'
(R):5'- TCAGATGCTGCAGTGGC -3'

Posted On

2022-10-06