Mutagenetix > Incidental Mutation

Incidental Mutation 'R7025:Trpm1'

545910

Institutional Source

Beutler Lab

Gene Symbol

Trpm1

Ensembl Gene

ENSMUSG00000030523

Gene Name

transient receptor potential cation channel, subfamily M, member 1

Synonyms

Mlsn1, 4732499L03Rik, LTRPC1, melastatin

MMRRC Submission

045126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7025 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

64153835-64269775 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 64226714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085222] [ENSMUST00000085222] [ENSMUST00000177102] [ENSMUST00000205348] [ENSMUST00000205994] [ENSMUST00000206263] [ENSMUST00000206263] [ENSMUST00000206277] [ENSMUST00000206277] [ENSMUST00000206314]

AlphaFold

Q2TV84

Predicted Effect

probably null
Transcript: ENSMUST00000085222

SMART Domains

Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
low complexity region	289	307	N/A	INTRINSIC
low complexity region	456	491	N/A	INTRINSIC
Blast:ANK	505	533	1e-5	BLAST
low complexity region	621	650	N/A	INTRINSIC
low complexity region	823	835	N/A	INTRINSIC
transmembrane domain	876	895	N/A	INTRINSIC
Pfam:Ion_trans	907	1120	6e-16	PFAM
transmembrane domain	1150	1167	N/A	INTRINSIC
low complexity region	1216	1225	N/A	INTRINSIC
PDB:3E7K\|H	1228	1279	1e-7	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000085222

SMART Domains

Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
low complexity region	289	307	N/A	INTRINSIC
low complexity region	456	491	N/A	INTRINSIC
Blast:ANK	505	533	1e-5	BLAST
low complexity region	621	650	N/A	INTRINSIC
low complexity region	823	835	N/A	INTRINSIC
transmembrane domain	876	895	N/A	INTRINSIC
Pfam:Ion_trans	907	1120	6e-16	PFAM
transmembrane domain	1150	1167	N/A	INTRINSIC
low complexity region	1216	1225	N/A	INTRINSIC
PDB:3E7K\|H	1228	1279	1e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000177102

SMART Domains

Protein: ENSMUSP00000134947
Gene: ENSMUSG00000030523

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
low complexity region	173	191	N/A	INTRINSIC
low complexity region	340	375	N/A	INTRINSIC
Blast:ANK	389	417	1e-5	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000205348

Predicted Effect

probably benign
Transcript: ENSMUST00000205994

Predicted Effect

probably null
Transcript: ENSMUST00000206263

Predicted Effect

probably null
Transcript: ENSMUST00000206263

Predicted Effect

probably null
Transcript: ENSMUST00000206277

Predicted Effect

probably null
Transcript: ENSMUST00000206277

Predicted Effect

probably benign
Transcript: ENSMUST00000206314

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538 (GRCm38)	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189 (GRCm38)	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421 (GRCm38)	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550 (GRCm38)	R593*	probably null	Het
Bicral	T	C	17: 46,801,668 (GRCm38)	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478 (GRCm38)	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668 (GRCm38)	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007 (GRCm38)	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074 (GRCm38)	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814 (GRCm38)	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606 (GRCm38)	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980 (GRCm38)	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983 (GRCm38)	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010 (GRCm38)	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939 (GRCm38)	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369 (GRCm38)	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311 (GRCm38)	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871 (GRCm38)	I207T	possibly damaging	Het
Fam219a	T	C	4: 41,521,925 (GRCm38)	S41G	probably benign	Het
Gask1b	T	C	3: 79,886,548 (GRCm38)	Y108H	probably damaging	Het
Ifi203	T	C	1: 173,928,385 (GRCm38)		probably benign	Het
Inpp4a	T	C	1: 37,369,423 (GRCm38)	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594 (GRCm38)	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197 (GRCm38)	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175 (GRCm38)	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028 (GRCm38)	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787 (GRCm38)	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644 (GRCm38)	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539 (GRCm38)	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508 (GRCm38)		probably benign	Het
Neb	T	C	2: 52,296,273 (GRCm38)	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493 (GRCm38)	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848 (GRCm38)	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881 (GRCm38)	R81*	probably null	Het
Npnt	C	T	3: 132,908,396 (GRCm38)	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954 (GRCm38)	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262 (GRCm38)	K148E	probably damaging	Het
Or4a71	T	A	2: 89,527,604 (GRCm38)	I269F	probably damaging	Het
Or6c63-ps1	T	A	10: 129,064,675 (GRCm38)	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501 (GRCm38)	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835 (GRCm38)	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183 (GRCm38)	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760 (GRCm38)	D959E	probably benign	Het
Pira13	T	A	7: 3,821,262 (GRCm38)	K629*	probably null	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187 (GRCm38)		probably benign	Het
Prpf40b	C	T	15: 99,306,400 (GRCm38)	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809 (GRCm38)	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685 (GRCm38)	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142 (GRCm38)	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281 (GRCm38)	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580 (GRCm38)	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837 (GRCm38)	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688 (GRCm38)	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403 (GRCm38)	V378I	possibly damaging	Het
Ubqln3	A	G	7: 104,141,275 (GRCm38)	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754 (GRCm38)	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083 (GRCm38)	I393F	possibly damaging	Het

Other mutations in Trpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Trpm1	APN	7	64,243,450 (GRCm38)	missense	probably damaging	1.00
IGL00465:Trpm1	APN	7	64,247,467 (GRCm38)	missense	possibly damaging	0.94
IGL01118:Trpm1	APN	7	64,235,824 (GRCm38)	missense	probably benign	0.24
IGL01148:Trpm1	APN	7	64,243,564 (GRCm38)	missense	probably damaging	1.00
IGL01303:Trpm1	APN	7	64,210,830 (GRCm38)	critical splice acceptor site	probably benign	0.00
IGL01432:Trpm1	APN	7	64,235,019 (GRCm38)	missense	probably benign	0.18
IGL01433:Trpm1	APN	7	64,204,528 (GRCm38)	missense	probably damaging	1.00
IGL01506:Trpm1	APN	7	64,243,581 (GRCm38)	missense	probably damaging	1.00
IGL01626:Trpm1	APN	7	64,268,889 (GRCm38)	missense	probably damaging	1.00
IGL01640:Trpm1	APN	7	64,226,897 (GRCm38)	missense	probably damaging	1.00
IGL01899:Trpm1	APN	7	64,234,994 (GRCm38)	missense	probably benign	0.24
IGL01959:Trpm1	APN	7	64,208,975 (GRCm38)	missense	possibly damaging	0.81
IGL02210:Trpm1	APN	7	64,210,865 (GRCm38)	missense	probably damaging	1.00
IGL02268:Trpm1	APN	7	64,217,614 (GRCm38)	missense	probably damaging	0.96
IGL02331:Trpm1	APN	7	64,235,052 (GRCm38)	missense	probably benign	0.30
IGL02334:Trpm1	APN	7	64,245,942 (GRCm38)	critical splice acceptor site	probably null
IGL02407:Trpm1	APN	7	64,219,121 (GRCm38)	missense	probably damaging	1.00
IGL02425:Trpm1	APN	7	64,240,427 (GRCm38)	missense	probably damaging	0.96
IGL02485:Trpm1	APN	7	64,269,114 (GRCm38)	missense	possibly damaging	0.52
IGL02635:Trpm1	APN	7	64,199,224 (GRCm38)	missense	probably benign	0.00
IGL02640:Trpm1	APN	7	64,219,133 (GRCm38)	missense	probably damaging	0.97
IGL02827:Trpm1	APN	7	64,219,160 (GRCm38)	missense	probably null	1.00
PIT4458001:Trpm1	UTSW	7	64,268,561 (GRCm38)	missense	possibly damaging	0.94
PIT4544001:Trpm1	UTSW	7	64,199,250 (GRCm38)	intron	probably benign
R0012:Trpm1	UTSW	7	64,268,591 (GRCm38)	missense	possibly damaging	0.88
R0014:Trpm1	UTSW	7	64,248,222 (GRCm38)	missense	probably damaging	1.00
R0056:Trpm1	UTSW	7	64,243,586 (GRCm38)	missense	probably damaging	1.00
R0445:Trpm1	UTSW	7	64,244,842 (GRCm38)	unclassified	probably benign
R0463:Trpm1	UTSW	7	64,220,254 (GRCm38)	missense	probably benign	0.05
R0469:Trpm1	UTSW	7	64,223,758 (GRCm38)	missense	probably damaging	1.00
R0510:Trpm1	UTSW	7	64,223,758 (GRCm38)	missense	probably damaging	1.00
R1301:Trpm1	UTSW	7	64,203,053 (GRCm38)	splice site	probably null
R1397:Trpm1	UTSW	7	64,217,658 (GRCm38)	missense	probably damaging	1.00
R1588:Trpm1	UTSW	7	64,223,817 (GRCm38)	missense	possibly damaging	0.93
R1618:Trpm1	UTSW	7	64,240,535 (GRCm38)	missense	probably damaging	1.00
R1724:Trpm1	UTSW	7	64,235,821 (GRCm38)	nonsense	probably null
R1827:Trpm1	UTSW	7	64,235,007 (GRCm38)	missense	probably damaging	1.00
R1829:Trpm1	UTSW	7	64,226,782 (GRCm38)	missense	probably damaging	1.00
R1835:Trpm1	UTSW	7	64,230,268 (GRCm38)	missense	probably damaging	1.00
R1864:Trpm1	UTSW	7	64,268,016 (GRCm38)	missense	probably damaging	1.00
R1895:Trpm1	UTSW	7	64,223,808 (GRCm38)	missense	probably damaging	1.00
R1946:Trpm1	UTSW	7	64,223,808 (GRCm38)	missense	probably damaging	1.00
R1959:Trpm1	UTSW	7	64,230,230 (GRCm38)	missense	probably damaging	1.00
R1960:Trpm1	UTSW	7	64,230,230 (GRCm38)	missense	probably damaging	1.00
R1980:Trpm1	UTSW	7	64,208,434 (GRCm38)	missense	possibly damaging	0.83
R1989:Trpm1	UTSW	7	64,209,032 (GRCm38)	intron	probably null
R2054:Trpm1	UTSW	7	64,240,555 (GRCm38)	missense	possibly damaging	0.69
R2156:Trpm1	UTSW	7	64,234,988 (GRCm38)	missense	probably damaging	1.00
R2251:Trpm1	UTSW	7	64,209,976 (GRCm38)	missense	probably damaging	1.00
R3051:Trpm1	UTSW	7	64,269,101 (GRCm38)	missense	probably damaging	1.00
R3148:Trpm1	UTSW	7	64,235,012 (GRCm38)	missense	probably benign	0.00
R3195:Trpm1	UTSW	7	64,199,313 (GRCm38)	nonsense	probably null
R3615:Trpm1	UTSW	7	64,243,570 (GRCm38)	missense	probably damaging	1.00
R3616:Trpm1	UTSW	7	64,243,570 (GRCm38)	missense	probably damaging	1.00
R3623:Trpm1	UTSW	7	64,244,853 (GRCm38)	missense	probably damaging	1.00
R3624:Trpm1	UTSW	7	64,244,853 (GRCm38)	missense	probably damaging	1.00
R3721:Trpm1	UTSW	7	64,217,727 (GRCm38)	intron	probably benign
R3822:Trpm1	UTSW	7	64,217,703 (GRCm38)	intron	probably benign
R4441:Trpm1	UTSW	7	64,201,918 (GRCm38)	missense	probably damaging	1.00
R4490:Trpm1	UTSW	7	64,208,912 (GRCm38)	nonsense	probably null
R4666:Trpm1	UTSW	7	64,203,034 (GRCm38)	missense	probably damaging	1.00
R4701:Trpm1	UTSW	7	64,243,500 (GRCm38)	missense	probably damaging	1.00
R4781:Trpm1	UTSW	7	64,235,052 (GRCm38)	missense	probably benign	0.30
R4811:Trpm1	UTSW	7	64,208,306 (GRCm38)	missense	probably damaging	1.00
R5017:Trpm1	UTSW	7	64,244,832 (GRCm38)	unclassified	probably benign
R5030:Trpm1	UTSW	7	64,235,831 (GRCm38)	missense	probably damaging	1.00
R5195:Trpm1	UTSW	7	64,237,693 (GRCm38)	missense	possibly damaging	0.84
R5238:Trpm1	UTSW	7	64,268,954 (GRCm38)	missense	probably damaging	1.00
R5304:Trpm1	UTSW	7	64,208,946 (GRCm38)	missense	probably benign	0.00
R5575:Trpm1	UTSW	7	64,220,270 (GRCm38)	missense	possibly damaging	0.95
R5613:Trpm1	UTSW	7	64,208,411 (GRCm38)	missense	probably damaging	1.00
R5855:Trpm1	UTSW	7	64,268,962 (GRCm38)	nonsense	probably null
R5947:Trpm1	UTSW	7	64,223,799 (GRCm38)	missense	probably benign	0.07
R5988:Trpm1	UTSW	7	64,226,805 (GRCm38)	missense	probably benign	0.16
R6054:Trpm1	UTSW	7	64,268,702 (GRCm38)	missense	probably benign	0.00
R6088:Trpm1	UTSW	7	64,267,976 (GRCm38)	missense	probably damaging	0.98
R6259:Trpm1	UTSW	7	64,268,478 (GRCm38)	missense	possibly damaging	0.47
R6379:Trpm1	UTSW	7	64,199,194 (GRCm38)	missense	probably benign	0.00
R6380:Trpm1	UTSW	7	64,268,297 (GRCm38)	missense	probably benign	0.24
R6429:Trpm1	UTSW	7	64,268,504 (GRCm38)	missense	probably benign	0.00
R6600:Trpm1	UTSW	7	64,154,033 (GRCm38)	start codon destroyed	probably null	0.56
R6622:Trpm1	UTSW	7	64,240,595 (GRCm38)	missense	probably damaging	0.96
R6939:Trpm1	UTSW	7	64,268,297 (GRCm38)	missense	probably benign	0.03
R6944:Trpm1	UTSW	7	64,243,433 (GRCm38)	missense	probably damaging	1.00
R7112:Trpm1	UTSW	7	64,235,845 (GRCm38)	missense	probably damaging	0.97
R7168:Trpm1	UTSW	7	64,268,697 (GRCm38)	missense	probably benign	0.01
R7219:Trpm1	UTSW	7	64,204,585 (GRCm38)	missense	possibly damaging	0.68
R7224:Trpm1	UTSW	7	64,219,106 (GRCm38)	critical splice acceptor site	probably null
R7285:Trpm1	UTSW	7	64,209,981 (GRCm38)	nonsense	probably null
R7367:Trpm1	UTSW	7	64,268,801 (GRCm38)	missense	probably benign	0.06
R7449:Trpm1	UTSW	7	64,208,975 (GRCm38)	missense	probably benign	0.14
R7466:Trpm1	UTSW	7	64,240,582 (GRCm38)	missense	probably damaging	0.99
R7498:Trpm1	UTSW	7	64,208,909 (GRCm38)	missense	possibly damaging	0.93
R7581:Trpm1	UTSW	7	64,204,555 (GRCm38)	missense	probably benign	0.00
R7776:Trpm1	UTSW	7	64,248,191 (GRCm38)	missense	probably benign	0.04
R8062:Trpm1	UTSW	7	64,201,941 (GRCm38)	missense	probably benign	0.18
R8069:Trpm1	UTSW	7	64,208,970 (GRCm38)	missense	possibly damaging	0.55
R8157:Trpm1	UTSW	7	64,199,269 (GRCm38)	missense	probably damaging	1.00
R8219:Trpm1	UTSW	7	64,201,951 (GRCm38)	missense	probably benign	0.35
R8258:Trpm1	UTSW	7	64,269,029 (GRCm38)	missense	probably benign	0.10
R8259:Trpm1	UTSW	7	64,269,029 (GRCm38)	missense	probably benign	0.10
R8320:Trpm1	UTSW	7	64,268,793 (GRCm38)	missense	possibly damaging	0.56
R8536:Trpm1	UTSW	7	64,247,407 (GRCm38)	missense	probably damaging	1.00
R8544:Trpm1	UTSW	7	64,224,608 (GRCm38)	splice site	probably null
R8813:Trpm1	UTSW	7	64,202,008 (GRCm38)	missense	possibly damaging	0.68
R8912:Trpm1	UTSW	7	64,268,880 (GRCm38)	missense	probably benign	0.06
R8954:Trpm1	UTSW	7	64,208,341 (GRCm38)	missense	probably damaging	0.98
R9139:Trpm1	UTSW	7	64,199,195 (GRCm38)	missense	probably benign	0.00
R9205:Trpm1	UTSW	7	64,240,571 (GRCm38)	missense	possibly damaging	0.66
R9258:Trpm1	UTSW	7	64,234,965 (GRCm38)	missense	probably benign	0.01
R9283:Trpm1	UTSW	7	64,223,875 (GRCm38)	missense	probably benign	0.18
R9394:Trpm1	UTSW	7	64,268,732 (GRCm38)	missense	probably benign	0.00
R9430:Trpm1	UTSW	7	64,223,698 (GRCm38)	missense	probably benign	0.38
R9537:Trpm1	UTSW	7	64,153,868 (GRCm38)	unclassified	probably benign
R9616:Trpm1	UTSW	7	64,208,384 (GRCm38)	missense	probably damaging	0.99
R9774:Trpm1	UTSW	7	64,248,293 (GRCm38)	missense	possibly damaging	0.90
X0026:Trpm1	UTSW	7	64,268,910 (GRCm38)	missense	probably benign	0.05
Z1176:Trpm1	UTSW	7	64,204,594 (GRCm38)	critical splice donor site	probably null
Z1176:Trpm1	UTSW	7	64,203,131 (GRCm38)	critical splice donor site	probably null
Z1177:Trpm1	UTSW	7	64,217,691 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGAACTGAAGCTGCTCAC -3'
(R):5'- TTGTAGAGCTTGCAGGCCAC -3'

Sequencing Primer
(F):5'- ACTGAAGCTGCTCACCCAGTG -3'
(R):5'- CTTGCAGGCCACCAAGG -3'

Posted On

2019-05-13