Mutagenetix > Incidental Mutation

Incidental Mutation 'R8813:Trpm1'

672556

Institutional Source

Beutler Lab

Gene Symbol

Trpm1

Ensembl Gene

ENSMUSG00000030523

Gene Name

transient receptor potential cation channel, subfamily M, member 1

Synonyms

Mlsn1, melastatin, 4732499L03Rik, LTRPC1

MMRRC Submission

068648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63803583-63919523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63851756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 158 (M158K)

Ref Sequence

ENSEMBL: ENSMUSP00000082318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085222] [ENSMUST00000177102] [ENSMUST00000205348] [ENSMUST00000205690] [ENSMUST00000205731] [ENSMUST00000206049] [ENSMUST00000206107] [ENSMUST00000206263] [ENSMUST00000206277] [ENSMUST00000206314] [ENSMUST00000206706]

AlphaFold

Q2TV84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085222
AA Change: M158K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523
AA Change: M158K

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

possibly damaging
Transcript: ENSMUST00000177102
AA Change: M42K

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134947
Gene: ENSMUSG00000030523
AA Change: M42K

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

possibly damaging
Transcript: ENSMUST00000205348
AA Change: M158K

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000205684

Predicted Effect

probably benign
Transcript: ENSMUST00000205690

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205731
AA Change: M42K

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000206049

Predicted Effect

probably benign
Transcript: ENSMUST00000206107

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206263
AA Change: M42K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000206277
AA Change: M158K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000206314
AA Change: M158K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206706
AA Change: M25K

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (48/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	T	C	2: 122,482,622 (GRCm39)	L62P	probably damaging	Het
Amotl2	T	G	9: 102,607,291 (GRCm39)	S700A	probably damaging	Het
Ccdc7a	A	G	8: 129,549,942 (GRCm39)	S1259P	possibly damaging	Het
Cenpj	C	T	14: 56,790,355 (GRCm39)	E565K	probably damaging	Het
Clmp	C	T	9: 40,692,549 (GRCm39)	R273*	probably null	Het
Cops7b	A	T	1: 86,528,846 (GRCm39)	Q191L	probably benign	Het
Cyp2c23	A	G	19: 44,002,054 (GRCm39)	F312L	probably benign	Het
Dgkd	G	A	1: 87,843,266 (GRCm39)	C169Y	probably damaging	Het
Dlec1	A	T	9: 118,956,498 (GRCm39)	N724I	probably benign	Het
Dmxl1	T	C	18: 50,090,406 (GRCm39)	V2831A	probably damaging	Het
Dnah5	G	T	15: 28,229,719 (GRCm39)	G118W	probably damaging	Het
Dnah6	G	T	6: 73,104,937 (GRCm39)	T1884K	probably damaging	Het
Dnai4	T	C	4: 102,947,697 (GRCm39)	E193G	possibly damaging	Het
Efnb2	T	A	8: 8,670,731 (GRCm39)	S290C	probably damaging	Het
Eif1ad6	A	G	12: 87,668,593 (GRCm39)	D75G	probably damaging	Het
Eif2ak4	C	A	2: 118,278,806 (GRCm39)	T990K	probably damaging	Het
Erich3	A	G	3: 154,468,827 (GRCm39)	D1093G	unknown	Het
H2-DMa	T	C	17: 34,354,734 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,295,216 (GRCm39)	D36N	probably benign	Het
Kcnk13	G	T	12: 100,027,647 (GRCm39)	G241W	probably damaging	Het
Kdm6b	GGGTGGTGGTGGTGGTGG	GGGTGGTGGTGGTGGTGGTGG	11: 69,297,655 (GRCm39)		probably benign	Het
Kdm6b	TGG	TGGGGG	11: 69,297,658 (GRCm39)		probably benign	Het
Klk1b5	G	T	7: 43,496,549 (GRCm39)	M160I	probably benign	Het
Lonp2	A	G	8: 87,358,073 (GRCm39)	Y98C	probably damaging	Het
Marcksl1	C	T	4: 129,408,999 (GRCm39)	P193S	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nxf7	G	A	X: 134,484,515 (GRCm39)	R513C	possibly damaging	Het
Or13a19	C	A	7: 139,902,793 (GRCm39)	Y60*	probably null	Het
Or4a73	A	T	2: 89,420,730 (GRCm39)	M243K	probably benign	Het
Or52e5	T	A	7: 104,719,518 (GRCm39)	Y281*	probably null	Het
Or7g32	T	G	9: 19,389,477 (GRCm39)	D23A	possibly damaging	Het
Or7g34	A	T	9: 19,477,895 (GRCm39)	Y262N	probably damaging	Het
Otof	T	A	5: 30,540,242 (GRCm39)	M965L	probably benign	Het
Parp12	A	G	6: 39,073,508 (GRCm39)	F439S	probably damaging	Het
Pde1a	G	A	2: 79,959,261 (GRCm39)		probably benign	Het
Pramel22	T	A	4: 143,380,913 (GRCm39)	N370I	probably damaging	Het
Prrc2c	T	C	1: 162,532,812 (GRCm39)	N1268D	unknown	Het
Pter	T	C	2: 12,985,114 (GRCm39)	V148A	probably benign	Het
Rb1	A	G	14: 73,500,027 (GRCm39)	M540T	probably damaging	Het
Rnasel	T	A	1: 153,629,641 (GRCm39)	N52K	probably damaging	Het
Rragd	A	T	4: 33,012,953 (GRCm39)	I317F	possibly damaging	Het
Sla	G	T	15: 66,664,127 (GRCm39)	S81R	probably benign	Het
T	A	G	17: 8,653,532 (GRCm39)	E57G	probably benign	Het
Tanc1	T	A	2: 59,630,265 (GRCm39)	F748L	probably damaging	Het
Tnxb	T	A	17: 34,938,136 (GRCm39)	W3073R	probably damaging	Het
Trim33	A	G	3: 103,254,052 (GRCm39)	T967A	probably benign	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Vmn1r205	A	G	13: 22,776,424 (GRCm39)	L226P	probably benign	Het
Vmn1r56	C	T	7: 5,198,733 (GRCm39)	V295M	probably damaging	Het
Vps13c	A	G	9: 67,778,566 (GRCm39)	D208G	probably damaging	Het
Zfp11	T	C	5: 129,735,278 (GRCm39)	D61G	probably benign	Het
Zscan4e	C	A	7: 11,041,540 (GRCm39)	E139*	probably null	Het

Other mutations in Trpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Trpm1	APN	7	63,893,198 (GRCm39)	missense	probably damaging	1.00
IGL00465:Trpm1	APN	7	63,897,215 (GRCm39)	missense	possibly damaging	0.94
IGL01118:Trpm1	APN	7	63,885,572 (GRCm39)	missense	probably benign	0.24
IGL01148:Trpm1	APN	7	63,893,312 (GRCm39)	missense	probably damaging	1.00
IGL01303:Trpm1	APN	7	63,860,578 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL01432:Trpm1	APN	7	63,884,767 (GRCm39)	missense	probably benign	0.18
IGL01433:Trpm1	APN	7	63,854,276 (GRCm39)	missense	probably damaging	1.00
IGL01506:Trpm1	APN	7	63,893,329 (GRCm39)	missense	probably damaging	1.00
IGL01626:Trpm1	APN	7	63,918,637 (GRCm39)	missense	probably damaging	1.00
IGL01640:Trpm1	APN	7	63,876,645 (GRCm39)	missense	probably damaging	1.00
IGL01899:Trpm1	APN	7	63,884,742 (GRCm39)	missense	probably benign	0.24
IGL01959:Trpm1	APN	7	63,858,723 (GRCm39)	missense	possibly damaging	0.81
IGL02210:Trpm1	APN	7	63,860,613 (GRCm39)	missense	probably damaging	1.00
IGL02268:Trpm1	APN	7	63,867,362 (GRCm39)	missense	probably damaging	0.96
IGL02331:Trpm1	APN	7	63,884,800 (GRCm39)	missense	probably benign	0.30
IGL02334:Trpm1	APN	7	63,895,690 (GRCm39)	critical splice acceptor site	probably null
IGL02407:Trpm1	APN	7	63,868,869 (GRCm39)	missense	probably damaging	1.00
IGL02425:Trpm1	APN	7	63,890,175 (GRCm39)	missense	probably damaging	0.96
IGL02485:Trpm1	APN	7	63,918,862 (GRCm39)	missense	possibly damaging	0.52
IGL02635:Trpm1	APN	7	63,848,972 (GRCm39)	missense	probably benign	0.00
IGL02640:Trpm1	APN	7	63,868,881 (GRCm39)	missense	probably damaging	0.97
IGL02827:Trpm1	APN	7	63,868,908 (GRCm39)	missense	probably null	1.00
PIT4458001:Trpm1	UTSW	7	63,918,309 (GRCm39)	missense	possibly damaging	0.94
PIT4544001:Trpm1	UTSW	7	63,848,998 (GRCm39)	intron	probably benign
R0012:Trpm1	UTSW	7	63,918,339 (GRCm39)	missense	possibly damaging	0.88
R0014:Trpm1	UTSW	7	63,897,970 (GRCm39)	missense	probably damaging	1.00
R0056:Trpm1	UTSW	7	63,893,334 (GRCm39)	missense	probably damaging	1.00
R0445:Trpm1	UTSW	7	63,894,590 (GRCm39)	unclassified	probably benign
R0463:Trpm1	UTSW	7	63,870,002 (GRCm39)	missense	probably benign	0.05
R0469:Trpm1	UTSW	7	63,873,506 (GRCm39)	missense	probably damaging	1.00
R0510:Trpm1	UTSW	7	63,873,506 (GRCm39)	missense	probably damaging	1.00
R1301:Trpm1	UTSW	7	63,852,801 (GRCm39)	splice site	probably null
R1397:Trpm1	UTSW	7	63,867,406 (GRCm39)	missense	probably damaging	1.00
R1588:Trpm1	UTSW	7	63,873,565 (GRCm39)	missense	possibly damaging	0.93
R1618:Trpm1	UTSW	7	63,890,283 (GRCm39)	missense	probably damaging	1.00
R1724:Trpm1	UTSW	7	63,885,569 (GRCm39)	nonsense	probably null
R1827:Trpm1	UTSW	7	63,884,755 (GRCm39)	missense	probably damaging	1.00
R1829:Trpm1	UTSW	7	63,876,530 (GRCm39)	missense	probably damaging	1.00
R1835:Trpm1	UTSW	7	63,880,016 (GRCm39)	missense	probably damaging	1.00
R1864:Trpm1	UTSW	7	63,917,764 (GRCm39)	missense	probably damaging	1.00
R1895:Trpm1	UTSW	7	63,873,556 (GRCm39)	missense	probably damaging	1.00
R1946:Trpm1	UTSW	7	63,873,556 (GRCm39)	missense	probably damaging	1.00
R1959:Trpm1	UTSW	7	63,879,978 (GRCm39)	missense	probably damaging	1.00
R1960:Trpm1	UTSW	7	63,879,978 (GRCm39)	missense	probably damaging	1.00
R1980:Trpm1	UTSW	7	63,858,182 (GRCm39)	missense	possibly damaging	0.83
R1989:Trpm1	UTSW	7	63,858,780 (GRCm39)	intron	probably null
R2054:Trpm1	UTSW	7	63,890,303 (GRCm39)	missense	possibly damaging	0.69
R2156:Trpm1	UTSW	7	63,884,736 (GRCm39)	missense	probably damaging	1.00
R2251:Trpm1	UTSW	7	63,859,724 (GRCm39)	missense	probably damaging	1.00
R3051:Trpm1	UTSW	7	63,918,849 (GRCm39)	missense	probably damaging	1.00
R3148:Trpm1	UTSW	7	63,884,760 (GRCm39)	missense	probably benign	0.00
R3195:Trpm1	UTSW	7	63,849,061 (GRCm39)	nonsense	probably null
R3615:Trpm1	UTSW	7	63,893,318 (GRCm39)	missense	probably damaging	1.00
R3616:Trpm1	UTSW	7	63,893,318 (GRCm39)	missense	probably damaging	1.00
R3623:Trpm1	UTSW	7	63,894,601 (GRCm39)	missense	probably damaging	1.00
R3624:Trpm1	UTSW	7	63,894,601 (GRCm39)	missense	probably damaging	1.00
R3721:Trpm1	UTSW	7	63,867,475 (GRCm39)	intron	probably benign
R3822:Trpm1	UTSW	7	63,867,451 (GRCm39)	intron	probably benign
R4441:Trpm1	UTSW	7	63,851,666 (GRCm39)	missense	probably damaging	1.00
R4490:Trpm1	UTSW	7	63,858,660 (GRCm39)	nonsense	probably null
R4666:Trpm1	UTSW	7	63,852,782 (GRCm39)	missense	probably damaging	1.00
R4701:Trpm1	UTSW	7	63,893,248 (GRCm39)	missense	probably damaging	1.00
R4781:Trpm1	UTSW	7	63,884,800 (GRCm39)	missense	probably benign	0.30
R4811:Trpm1	UTSW	7	63,858,054 (GRCm39)	missense	probably damaging	1.00
R5017:Trpm1	UTSW	7	63,894,580 (GRCm39)	unclassified	probably benign
R5030:Trpm1	UTSW	7	63,885,579 (GRCm39)	missense	probably damaging	1.00
R5195:Trpm1	UTSW	7	63,887,441 (GRCm39)	missense	possibly damaging	0.84
R5238:Trpm1	UTSW	7	63,918,702 (GRCm39)	missense	probably damaging	1.00
R5304:Trpm1	UTSW	7	63,858,694 (GRCm39)	missense	probably benign	0.00
R5575:Trpm1	UTSW	7	63,870,018 (GRCm39)	missense	possibly damaging	0.95
R5613:Trpm1	UTSW	7	63,858,159 (GRCm39)	missense	probably damaging	1.00
R5855:Trpm1	UTSW	7	63,918,710 (GRCm39)	nonsense	probably null
R5947:Trpm1	UTSW	7	63,873,547 (GRCm39)	missense	probably benign	0.07
R5988:Trpm1	UTSW	7	63,876,553 (GRCm39)	missense	probably benign	0.16
R6054:Trpm1	UTSW	7	63,918,450 (GRCm39)	missense	probably benign	0.00
R6088:Trpm1	UTSW	7	63,917,724 (GRCm39)	missense	probably damaging	0.98
R6259:Trpm1	UTSW	7	63,918,226 (GRCm39)	missense	possibly damaging	0.47
R6379:Trpm1	UTSW	7	63,848,942 (GRCm39)	missense	probably benign	0.00
R6380:Trpm1	UTSW	7	63,918,045 (GRCm39)	missense	probably benign	0.24
R6429:Trpm1	UTSW	7	63,918,252 (GRCm39)	missense	probably benign	0.00
R6600:Trpm1	UTSW	7	63,803,781 (GRCm39)	start codon destroyed	probably null	0.56
R6622:Trpm1	UTSW	7	63,890,343 (GRCm39)	missense	probably damaging	0.96
R6939:Trpm1	UTSW	7	63,918,045 (GRCm39)	missense	probably benign	0.03
R6944:Trpm1	UTSW	7	63,893,181 (GRCm39)	missense	probably damaging	1.00
R7025:Trpm1	UTSW	7	63,876,462 (GRCm39)	critical splice acceptor site	probably null
R7112:Trpm1	UTSW	7	63,885,593 (GRCm39)	missense	probably damaging	0.97
R7168:Trpm1	UTSW	7	63,918,445 (GRCm39)	missense	probably benign	0.01
R7219:Trpm1	UTSW	7	63,854,333 (GRCm39)	missense	possibly damaging	0.68
R7224:Trpm1	UTSW	7	63,868,854 (GRCm39)	critical splice acceptor site	probably null
R7285:Trpm1	UTSW	7	63,859,729 (GRCm39)	nonsense	probably null
R7367:Trpm1	UTSW	7	63,918,549 (GRCm39)	missense	probably benign	0.06
R7449:Trpm1	UTSW	7	63,858,723 (GRCm39)	missense	probably benign	0.14
R7466:Trpm1	UTSW	7	63,890,330 (GRCm39)	missense	probably damaging	0.99
R7498:Trpm1	UTSW	7	63,858,657 (GRCm39)	missense	possibly damaging	0.93
R7581:Trpm1	UTSW	7	63,854,303 (GRCm39)	missense	probably benign	0.00
R7776:Trpm1	UTSW	7	63,897,939 (GRCm39)	missense	probably benign	0.04
R8062:Trpm1	UTSW	7	63,851,689 (GRCm39)	missense	probably benign	0.18
R8069:Trpm1	UTSW	7	63,858,718 (GRCm39)	missense	possibly damaging	0.55
R8157:Trpm1	UTSW	7	63,849,017 (GRCm39)	missense	probably damaging	1.00
R8219:Trpm1	UTSW	7	63,851,699 (GRCm39)	missense	probably benign	0.35
R8258:Trpm1	UTSW	7	63,918,777 (GRCm39)	missense	probably benign	0.10
R8259:Trpm1	UTSW	7	63,918,777 (GRCm39)	missense	probably benign	0.10
R8320:Trpm1	UTSW	7	63,918,541 (GRCm39)	missense	possibly damaging	0.56
R8536:Trpm1	UTSW	7	63,897,155 (GRCm39)	missense	probably damaging	1.00
R8544:Trpm1	UTSW	7	63,874,356 (GRCm39)	splice site	probably null
R8912:Trpm1	UTSW	7	63,918,628 (GRCm39)	missense	probably benign	0.06
R8954:Trpm1	UTSW	7	63,858,089 (GRCm39)	missense	probably damaging	0.98
R9139:Trpm1	UTSW	7	63,848,943 (GRCm39)	missense	probably benign	0.00
R9205:Trpm1	UTSW	7	63,890,319 (GRCm39)	missense	possibly damaging	0.66
R9258:Trpm1	UTSW	7	63,884,713 (GRCm39)	missense	probably benign	0.01
R9283:Trpm1	UTSW	7	63,873,623 (GRCm39)	missense	probably benign	0.18
R9394:Trpm1	UTSW	7	63,918,480 (GRCm39)	missense	probably benign	0.00
R9430:Trpm1	UTSW	7	63,873,446 (GRCm39)	missense	probably benign	0.38
R9537:Trpm1	UTSW	7	63,803,616 (GRCm39)	unclassified	probably benign
R9616:Trpm1	UTSW	7	63,858,132 (GRCm39)	missense	probably damaging	0.99
R9774:Trpm1	UTSW	7	63,898,041 (GRCm39)	missense	possibly damaging	0.90
X0026:Trpm1	UTSW	7	63,918,658 (GRCm39)	missense	probably benign	0.05
Z1176:Trpm1	UTSW	7	63,854,342 (GRCm39)	critical splice donor site	probably null
Z1176:Trpm1	UTSW	7	63,852,879 (GRCm39)	critical splice donor site	probably null
Z1177:Trpm1	UTSW	7	63,867,439 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGACACGTGTCATATCCCTG -3'
(R):5'- TCAGGCTTCCTTGTGTCGAG -3'

Sequencing Primer
(F):5'- CCTTTGACAGGGACACGAAGC -3'
(R):5'- TGTGTCGAGTCTTCCAGCCAG -3'

Posted On

2021-04-30