Mutagenetix > Incidental Mutation

Incidental Mutation 'R7179:Trpc1'

558842

Institutional Source

Beutler Lab

Gene Symbol

Trpc1

Ensembl Gene

ENSMUSG00000032839

Gene Name

transient receptor potential cation channel, subfamily C, member 1

Synonyms

Mtrp1, Trp1, Trrp1

MMRRC Submission

045269-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R7179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95587135-95632428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95603197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 445 (L445Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053785] [ENSMUST00000186235] [ENSMUST00000189137] [ENSMUST00000190497] [ENSMUST00000190604]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053785
AA Change: L411Q

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: L411Q

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
ANK	62	93	1.41e2	SMART
ANK	99	129	2.11e1	SMART
ANK	174	203	1.33e2	SMART
Pfam:TRP_2	209	271	2.6e-27	PFAM
transmembrane domain	367	386	N/A	INTRINSIC
Pfam:Ion_trans	407	673	5.9e-17	PFAM
coiled coil region	770	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186235

SMART Domains

Protein: ENSMUSP00000140994
Gene: ENSMUSG00000032839

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	7e-12	BLAST
Pfam:TRP_2	50	105	1e-18	PFAM
transmembrane domain	201	222	N/A	INTRINSIC
transmembrane domain	237	254	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189137
AA Change: L445Q

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: L445Q

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
ANK	62	93	1.41e2	SMART
ANK	99	129	2.11e1	SMART
ANK	174	203	1.33e2	SMART
Pfam:TRP_2	209	271	1.8e-29	PFAM
transmembrane domain	367	386	N/A	INTRINSIC
transmembrane domain	407	424	N/A	INTRINSIC
Pfam:Ion_trans	441	661	1.2e-21	PFAM
coiled coil region	770	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190497

SMART Domains

Protein: ENSMUSP00000140550
Gene: ENSMUSG00000032839

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190604

SMART Domains

Protein: ENSMUSP00000139577
Gene: ENSMUSG00000032839

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (76/76)

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 membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight and a severe loss of salivary gland fluid secretion due to attenuation of store-operated Ca2+ currents. Surprisingly, no abnormalities are seen in store-operated or mechanosensitive cation channels in vascular smooth muscle cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	A	T	13: 25,002,154 (GRCm39)	I96K	probably benign	Het
Adam6a	A	G	12: 113,509,291 (GRCm39)	T555A	probably benign	Het
Alms1	C	T	6: 85,598,351 (GRCm39)	P1059L	probably benign	Het
Apol7c	T	C	15: 77,409,843 (GRCm39)	T368A	probably benign	Het
Arfgef3	A	T	10: 18,475,015 (GRCm39)	L1557Q	probably damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Bmp3	T	A	5: 99,020,622 (GRCm39)	D348E	probably damaging	Het
Bves	A	G	10: 45,230,913 (GRCm39)	S295G	probably damaging	Het
Carmil1	A	G	13: 24,204,052 (GRCm39)	C1328R	probably benign	Het
Ccnk	T	A	12: 108,153,517 (GRCm39)	Y93N	probably damaging	Het
Ccr1	A	T	9: 123,764,089 (GRCm39)	V147D	probably damaging	Het
Cd24a	G	A	10: 43,458,636 (GRCm39)	G36S	probably benign	Het
Cep104	A	G	4: 154,077,324 (GRCm39)	Y569C	probably damaging	Het
Chd2	A	T	7: 73,125,168 (GRCm39)	I884N	probably damaging	Het
Cnst	A	T	1: 179,406,947 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Col25a1	G	T	3: 130,323,768 (GRCm39)	R321L	probably damaging	Het
Ctnnd2	T	C	15: 30,683,510 (GRCm39)	Y504H	possibly damaging	Het
D3Ertd751e	C	A	3: 41,703,143 (GRCm39)	Q73K	probably damaging	Het
Dsc2	C	T	18: 20,168,332 (GRCm39)		probably null	Het
Eya1	A	T	1: 14,373,076 (GRCm39)	S14R	probably damaging	Het
Fam131c	A	T	4: 141,110,328 (GRCm39)		probably null	Het
Flvcr2	T	C	12: 85,793,965 (GRCm39)	F114L	possibly damaging	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Galnt5	A	C	2: 57,888,621 (GRCm39)	M74L	probably benign	Het
Garin4	G	A	1: 190,896,218 (GRCm39)	R142C	probably damaging	Het
Gas2l2	G	A	11: 83,313,288 (GRCm39)	P675S	probably benign	Het
Gm9508	G	T	10: 77,532,470 (GRCm39)	Q200K	unknown	Het
Greb1l	G	A	18: 10,544,576 (GRCm39)	S1390N	probably benign	Het
Hdac5	G	T	11: 102,095,385 (GRCm39)	T430K	possibly damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Khnyn	C	T	14: 56,131,811 (GRCm39)	P578S	probably damaging	Het
Lepr	A	T	4: 101,602,856 (GRCm39)	T215S	probably benign	Het
Lrfn5	G	A	12: 61,890,768 (GRCm39)	V686I	probably benign	Het
Mapkap1	T	A	2: 34,408,712 (GRCm39)	H233Q	possibly damaging	Het
Mcm3	A	G	1: 20,885,081 (GRCm39)	I201T	probably damaging	Het
Metrnl	G	A	11: 121,606,734 (GRCm39)	R263Q	probably damaging	Het
Mettl22	A	G	16: 8,295,924 (GRCm39)	E71G	probably benign	Het
Muc16	T	C	9: 18,553,304 (GRCm39)	T4330A	probably benign	Het
Mug1	A	G	6: 121,834,379 (GRCm39)	T387A	probably benign	Het
Myh4	A	G	11: 67,135,550 (GRCm39)	D379G	probably benign	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Ncor2	T	C	5: 125,132,847 (GRCm39)	K478E	unknown	Het
Or14a256	A	T	7: 86,265,574 (GRCm39)	L93Q	possibly damaging	Het
Or51d1	A	G	7: 102,347,477 (GRCm39)	T11A	probably benign	Het
Or5k1	T	A	16: 58,617,250 (GRCm39)	I320F	probably benign	Het
Osbpl7	G	A	11: 96,941,662 (GRCm39)	V62I	probably benign	Het
Pak1ip1	A	G	13: 41,163,018 (GRCm39)	N246S	probably damaging	Het
Prim1	A	G	10: 127,851,845 (GRCm39)	Y39C	probably damaging	Het
Prl3b1	G	T	13: 27,427,827 (GRCm39)	V46L	probably benign	Het
Prss54	A	T	8: 96,292,199 (GRCm39)	S127T	probably benign	Het
Rasal3	G	A	17: 32,611,391 (GRCm39)	T912M	probably damaging	Het
Rrp12	T	A	19: 41,872,217 (GRCm39)	T420S	probably benign	Het
Rspo1	A	G	4: 124,898,831 (GRCm39)	N51D	probably damaging	Het
Rufy4	A	G	1: 74,172,035 (GRCm39)	R253G	probably benign	Het
Scaf1	G	A	7: 44,657,167 (GRCm39)	R571C	unknown	Het
Scn2a	A	T	2: 65,532,323 (GRCm39)	H645L	probably damaging	Het
Sec24b	A	G	3: 129,782,595 (GRCm39)	S1132P	probably damaging	Het
Slc1a2	A	G	2: 102,586,290 (GRCm39)	K298R	probably damaging	Het
Slc25a54	T	A	3: 109,014,573 (GRCm39)	N230K	probably benign	Het
Slc27a4	T	G	2: 29,705,664 (GRCm39)	Y617*	probably null	Het
Slc2a10	T	C	2: 165,357,269 (GRCm39)	S310P	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spag9	A	T	11: 93,980,258 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,932,270 (GRCm39)		probably null	Het
Sycp2l	A	G	13: 41,283,258 (GRCm39)	T165A	probably damaging	Het
Syt14	A	G	1: 192,615,571 (GRCm39)	C189R	probably damaging	Het
Taar9	A	T	10: 23,984,882 (GRCm39)	L184Q	probably damaging	Het
Tkt	C	T	14: 30,281,815 (GRCm39)	P111L	probably damaging	Het
Usp53	A	G	3: 122,743,359 (GRCm39)	S526P	probably benign	Het
Vps54	T	G	11: 21,248,791 (GRCm39)	W447G	probably damaging	Het
Xirp2	A	T	2: 67,340,177 (GRCm39)	H806L	probably benign	Het
Zfp451	A	T	1: 33,841,651 (GRCm39)	H410Q	unknown	Het
Zfp688	A	G	7: 127,018,484 (GRCm39)	C214R	probably damaging	Het
Zic4	A	G	9: 91,261,174 (GRCm39)	D143G	possibly damaging	Het

Other mutations in Trpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Trpc1	APN	9	95,608,547 (GRCm39)	missense	probably damaging	1.00
IGL02094:Trpc1	APN	9	95,625,334 (GRCm39)	missense	probably damaging	1.00
IGL02412:Trpc1	APN	9	95,618,914 (GRCm39)	missense	probably damaging	1.00
IGL02494:Trpc1	APN	9	95,590,360 (GRCm39)	missense	probably damaging	1.00
IGL02943:Trpc1	APN	9	95,590,906 (GRCm39)	splice site	probably benign
IGL03025:Trpc1	APN	9	95,592,313 (GRCm39)	missense	probably damaging	1.00
IGL03221:Trpc1	APN	9	95,588,953 (GRCm39)	missense	probably damaging	1.00
Enlarged	UTSW	9	95,603,524 (GRCm39)	critical splice acceptor site	probably null
luxus	UTSW	9	95,603,185 (GRCm39)	critical splice donor site	probably null
Magnified	UTSW	9	95,608,490 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Trpc1	UTSW	9	95,618,974 (GRCm39)	missense	probably benign	0.21
R0034:Trpc1	UTSW	9	95,631,814 (GRCm39)	missense	probably damaging	0.98
R1973:Trpc1	UTSW	9	95,605,308 (GRCm39)	missense	probably benign
R2033:Trpc1	UTSW	9	95,588,896 (GRCm39)	missense	probably damaging	0.99
R2117:Trpc1	UTSW	9	95,599,637 (GRCm39)	missense	probably damaging	1.00
R2262:Trpc1	UTSW	9	95,588,986 (GRCm39)	missense	probably damaging	1.00
R2910:Trpc1	UTSW	9	95,631,895 (GRCm39)	missense	probably benign	0.00
R2918:Trpc1	UTSW	9	95,605,182 (GRCm39)	missense	probably damaging	1.00
R3156:Trpc1	UTSW	9	95,603,185 (GRCm39)	critical splice donor site	probably null
R3427:Trpc1	UTSW	9	95,614,249 (GRCm39)	missense	probably benign	0.12
R4093:Trpc1	UTSW	9	95,588,918 (GRCm39)	missense	probably benign	0.12
R4384:Trpc1	UTSW	9	95,614,161 (GRCm39)	missense	probably benign	0.13
R4787:Trpc1	UTSW	9	95,603,468 (GRCm39)	missense	probably benign	0.02
R5327:Trpc1	UTSW	9	95,603,524 (GRCm39)	critical splice acceptor site	probably null
R5576:Trpc1	UTSW	9	95,603,377 (GRCm39)	missense	probably damaging	0.97
R6320:Trpc1	UTSW	9	95,603,303 (GRCm39)	missense	probably damaging	1.00
R6499:Trpc1	UTSW	9	95,608,490 (GRCm39)	missense	probably damaging	1.00
R6714:Trpc1	UTSW	9	95,605,326 (GRCm39)	missense	probably damaging	1.00
R7265:Trpc1	UTSW	9	95,590,328 (GRCm39)	missense	probably benign
R8169:Trpc1	UTSW	9	95,592,323 (GRCm39)	nonsense	probably null
R8288:Trpc1	UTSW	9	95,603,434 (GRCm39)	missense	probably damaging	1.00
R8342:Trpc1	UTSW	9	95,608,601 (GRCm39)	missense	probably damaging	1.00
R9276:Trpc1	UTSW	9	95,590,288 (GRCm39)	missense	probably benign	0.13
R9317:Trpc1	UTSW	9	95,603,275 (GRCm39)	missense	probably damaging	1.00
R9509:Trpc1	UTSW	9	95,625,249 (GRCm39)	critical splice donor site	probably null
R9529:Trpc1	UTSW	9	95,592,250 (GRCm39)	missense	probably damaging	1.00
R9784:Trpc1	UTSW	9	95,599,646 (GRCm39)	missense	possibly damaging	0.92
R9800:Trpc1	UTSW	9	95,625,303 (GRCm39)	missense	probably damaging	1.00
X0026:Trpc1	UTSW	9	95,614,097 (GRCm39)	missense	probably benign	0.36
Z1176:Trpc1	UTSW	9	95,605,269 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGTCAGCCACAAGATTCC -3'
(R):5'- CTGGCCAGTTTTGTCACTATG -3'

Sequencing Primer
(F):5'- AGCCACAAGATTCCTATCTGTGGG -3'
(R):5'- GCCAGTTTTGTCACTATGCTATTTG -3'

Posted On

2019-06-26