Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Trpm1'

84156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpm1

Ensembl Gene

ENSMUSG00000030523

Gene Name

transient receptor potential cation channel, subfamily M, member 1

Synonyms

Mlsn1, 4732499L03Rik, LTRPC1, melastatin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

64153835-64269775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64235019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 816 (D816G)

Ref Sequence

ENSEMBL: ENSMUSP00000146226 (fasta)

Gene Model

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

AlphaFold

Q2TV84

Predicted Effect

probably benign
Transcript: ENSMUST00000085222
AA Change: D816G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523
AA Change: D816G

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: ENSMUST00000107525
AA Change: D816G

PolyPhen 2 Score 0.120 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103149
Gene: ENSMUSG00000030523
AA Change: D816G

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
Pfam:Ion_trans	876	1138	7.6e-22	PFAM
transmembrane domain	1156	1173	N/A	INTRINSIC
Pfam:TRPM_tetra	1230	1285	9.4e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206000

Predicted Effect

probably benign
Transcript: ENSMUST00000206263
AA Change: D700G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000206277
AA Change: D816G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000206314

Coding Region Coverage

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,003,759 (GRCm38)	V3166E	possibly damaging	Het
Aldh9a1	T	C	1: 167,355,785 (GRCm38)	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,565,781 (GRCm38)	I164F	probably damaging	Het
Anapc1	C	A	2: 128,633,408 (GRCm38)	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,319,433 (GRCm38)	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,400,205 (GRCm38)	K892E	probably benign	Het
Bpnt1	G	A	1: 185,354,021 (GRCm38)	W261*	probably null	Het
Calu	A	G	6: 29,356,553 (GRCm38)	D26G	possibly damaging	Het
Ccdc113	C	T	8: 95,538,257 (GRCm38)		probably benign	Het
Cd109	T	C	9: 78,698,123 (GRCm38)	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,830,947 (GRCm38)	K290R	probably damaging	Het
Cep131	G	A	11: 120,077,009 (GRCm38)	A140V	possibly damaging	Het
Chn1	A	T	2: 73,631,752 (GRCm38)	C236S	probably damaging	Het
Cntn4	T	A	6: 106,678,334 (GRCm38)		probably benign	Het
Crispld1	A	T	1: 17,746,801 (GRCm38)	Q194L	probably benign	Het
Csmd3	A	G	15: 47,733,499 (GRCm38)	V1981A	probably damaging	Het
Cttn	A	G	7: 144,461,306 (GRCm38)	I55T	probably damaging	Het
Ddx46	G	T	13: 55,638,022 (GRCm38)		probably benign	Het
Diaph1	A	T	18: 37,897,504 (GRCm38)	I299N	unknown	Het
Dll1	A	G	17: 15,368,506 (GRCm38)	Y636H	probably damaging	Het
Eng	A	T	2: 32,669,532 (GRCm38)	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,589,876 (GRCm38)	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,717,975 (GRCm38)	T461S	probably benign	Het
Gbf1	T	C	19: 46,279,995 (GRCm38)	Y1269H	probably damaging	Het
Gm10436	T	C	12: 88,176,432 (GRCm38)	K139E	probably benign	Het
Gm5852	A	G	3: 93,727,779 (GRCm38)	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,182,193 (GRCm38)	G323R	probably damaging	Het
Gpr155	T	A	2: 73,351,885 (GRCm38)	E661D	possibly damaging	Het
Grik4	A	T	9: 42,521,176 (GRCm38)	C842S	probably damaging	Het
Iws1	A	G	18: 32,083,466 (GRCm38)		probably benign	Het
Kif5c	A	G	2: 49,701,077 (GRCm38)	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,251,977 (GRCm38)	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,809,096 (GRCm38)	T3865A	unknown	Het
Lgr5	T	C	10: 115,453,092 (GRCm38)	K477R	probably damaging	Het
Ly75	A	T	2: 60,376,007 (GRCm38)	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,625,639 (GRCm38)	M26K	probably damaging	Het
Mettl2	T	C	11: 105,126,522 (GRCm38)	V9A	probably benign	Het
Mgat5b	A	G	11: 116,973,376 (GRCm38)	D456G	probably benign	Het
Mstn	A	G	1: 53,066,530 (GRCm38)	T344A	possibly damaging	Het
Npr1	T	A	3: 90,463,236 (GRCm38)	I308F	possibly damaging	Het
Oasl1	G	A	5: 114,937,407 (GRCm38)	V509M	probably benign	Het
Obscn	T	C	11: 59,033,757 (GRCm38)	M5727V	probably benign	Het
Olfr1219	T	A	2: 89,074,201 (GRCm38)	I297F	probably benign	Het
Olfr262	A	G	19: 12,241,527 (GRCm38)	S45P	probably damaging	Het
Olfr710	T	C	7: 106,944,541 (GRCm38)	I153M	possibly damaging	Het
Olfr726	T	A	14: 50,083,947 (GRCm38)	T245S	probably benign	Het
Pcgf1	T	C	6: 83,078,417 (GRCm38)	I11T	possibly damaging	Het
Phactr3	T	C	2: 178,283,100 (GRCm38)	V276A	probably benign	Het
Pla2g6	A	T	15: 79,317,968 (GRCm38)	M1K	probably null	Het
Plec	T	C	15: 76,190,528 (GRCm38)	E413G	probably damaging	Het
Plxna2	G	T	1: 194,644,318 (GRCm38)	A187S	possibly damaging	Het
Polq	A	T	16: 37,071,822 (GRCm38)		probably benign	Het
Prss39	A	G	1: 34,502,135 (GRCm38)	D240G	probably benign	Het
Ptpn12	A	T	5: 20,998,555 (GRCm38)	Y408*	probably null	Het
Ptprt	A	G	2: 162,268,079 (GRCm38)		probably benign	Het
Rnf6	A	T	5: 146,216,121 (GRCm38)	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,851,204 (GRCm38)	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,414,066 (GRCm38)	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,236,286 (GRCm38)	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,431,290 (GRCm38)	T527A	probably damaging	Het
Smg9	T	C	7: 24,421,266 (GRCm38)		probably null	Het
Snx25	A	G	8: 46,105,160 (GRCm38)	L270P	probably damaging	Het
Ssh1	G	T	5: 113,958,822 (GRCm38)	T165N	probably benign	Het
Stk24	T	A	14: 121,302,806 (GRCm38)	E127V	probably damaging	Het
Suco	A	G	1: 161,834,120 (GRCm38)	V914A	probably damaging	Het
Tbcd	T	A	11: 121,475,680 (GRCm38)		probably benign	Het
Tbcel	A	T	9: 42,444,521 (GRCm38)	L114Q	possibly damaging	Het
Uhrf1	G	A	17: 56,318,250 (GRCm38)	V566M	probably damaging	Het
Ulk4	T	A	9: 121,266,301 (GRCm38)	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,714,219 (GRCm38)	M6T	probably benign	Het
Vmn2r59	C	T	7: 42,012,559 (GRCm38)	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,240 (GRCm38)	H367N	probably benign	Het
Wdr66	A	G	5: 123,279,952 (GRCm38)	I81M	possibly damaging	Het
Xpo6	A	G	7: 126,124,381 (GRCm38)	V585A	probably benign	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
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
R7025:Trpm1	UTSW	7	64,226,714 (GRCm38)	critical splice acceptor site	probably null
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

Posted On

2013-11-11