Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Trpc1'

734223

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9784 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95587135-95632428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95599646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 471 (R471H)

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: R437H

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: R437H

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: R471H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: R471H

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,338,527 (GRCm39)	P495L	possibly damaging	Het
Acly	C	T	11: 100,389,112 (GRCm39)	A557T	probably benign	Het
Adgrl4	A	T	3: 151,214,948 (GRCm39)	T446S	probably damaging	Het
AK157302	A	G	13: 21,679,768 (GRCm39)	E98G	probably damaging	Het
Akap6	A	T	12: 53,187,853 (GRCm39)	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,541,424 (GRCm39)	T273A	probably benign	Het
Aldh1l2	T	A	10: 83,342,614 (GRCm39)		probably null	Het
Alox12	T	C	11: 70,143,665 (GRCm39)	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,371,422 (GRCm39)	V257A	probably damaging	Het
Asxl3	C	T	18: 22,650,311 (GRCm39)	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,110,565 (GRCm39)	K692R	probably null	Het
Btbd2	T	C	10: 80,484,481 (GRCm39)	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,651,801 (GRCm39)	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,404,346 (GRCm39)	C1081S	probably benign	Het
Cass4	T	C	2: 172,269,753 (GRCm39)	S612P	probably benign	Het
Cd209d	A	G	8: 3,926,337 (GRCm39)	S123P	probably damaging	Het
Cep112	T	C	11: 108,461,217 (GRCm39)	S665P	probably damaging	Het
Cnp	C	T	11: 100,467,437 (GRCm39)	R127W	probably damaging	Het
Col9a2	A	T	4: 120,898,226 (GRCm39)	D46V	unknown	Het
Cyp1a2	T	A	9: 57,587,562 (GRCm39)	N336I	probably benign	Het
Cyp2c37	A	G	19: 39,988,943 (GRCm39)	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,935,622 (GRCm39)	E163D	probably benign	Het
Dido1	A	T	2: 180,325,354 (GRCm39)	F611L	probably benign	Het
Dnah9	T	A	11: 65,975,960 (GRCm39)	N1363I	probably damaging	Het
Drg2	A	G	11: 60,358,548 (GRCm39)	K331R	probably benign	Het
Fam171b	T	A	2: 83,690,787 (GRCm39)	I250K	probably damaging	Het
Fem1al	A	T	11: 29,775,253 (GRCm39)	V68E	probably damaging	Het
Fut8	T	A	12: 77,459,613 (GRCm39)	I242N	probably damaging	Het
Glyat	T	C	19: 12,628,844 (GRCm39)	V247A	probably benign	Het
Gucy2e	T	C	11: 69,123,516 (GRCm39)	N461S	probably benign	Het
Hif3a	T	A	7: 16,771,076 (GRCm39)	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,031,228 (GRCm39)	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,431,994 (GRCm39)	V106M	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Katna1	G	C	10: 7,638,590 (GRCm39)	E440D	probably null	Het
Kmt2c	T	C	5: 25,549,959 (GRCm39)	R1341G	probably damaging	Het
Krt14	C	T	11: 100,097,966 (GRCm39)	G106S	unknown	Het
Krt39	A	G	11: 99,409,188 (GRCm39)	C238R	possibly damaging	Het
Mak	C	T	13: 41,202,836 (GRCm39)	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,810,812 (GRCm39)	Y154C	probably damaging	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,124,799 (GRCm39)	R38W	probably damaging	Het
Midn	A	G	10: 79,992,247 (GRCm39)	E433G	probably damaging	Het
Muc2	T	A	7: 141,280,785 (GRCm39)	C380*	probably null	Het
Nans	G	T	4: 46,499,129 (GRCm39)	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,299,741 (GRCm39)	W1359*	probably null	Het
Neo1	T	A	9: 58,889,503 (GRCm39)	E256V	probably benign	Het
Nkd1	C	A	8: 89,318,330 (GRCm39)	D322E	probably damaging	Het
Olfm4	T	C	14: 80,249,348 (GRCm39)	V155A	probably damaging	Het
Opa1	C	A	16: 29,437,029 (GRCm39)	S646*	probably null	Het
Or1p4-ps1	G	T	11: 74,208,709 (GRCm39)	C286F	unknown	Het
Or4f7	A	G	2: 111,644,604 (GRCm39)	S156P	probably damaging	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or52z1	T	A	7: 103,436,732 (GRCm39)	I251F	probably benign	Het
Or5b107	T	A	19: 13,142,813 (GRCm39)	L145Q	probably damaging	Het
Or5b12b	G	A	19: 12,861,874 (GRCm39)	V210M	probably benign	Het
Or7g29	A	T	9: 19,287,116 (GRCm39)	D20E	probably damaging	Het
Pcdh15	A	T	10: 74,467,212 (GRCm39)	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,810,119 (GRCm39)	T230A	probably benign	Het
Ptf1a	G	T	2: 19,451,381 (GRCm39)	R237L	probably benign	Het
Ripk4	G	A	16: 97,549,306 (GRCm39)	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,649 (GRCm39)	H14R		Het
Setdb1	T	C	3: 95,233,173 (GRCm39)	S1122G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a18	T	A	7: 143,046,678 (GRCm39)	M274K	probably benign	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Stau1	T	C	2: 166,791,695 (GRCm39)	M481V	probably benign	Het
Stk39	C	T	2: 68,198,775 (GRCm39)	G281E	probably damaging	Het
Stt3a	A	T	9: 36,670,079 (GRCm39)	L119Q	probably damaging	Het
Stx18	C	T	5: 38,196,635 (GRCm39)		probably benign	Het
Tgfbr3	G	T	5: 107,297,799 (GRCm39)	N200K	probably benign	Het
Timm8b	A	G	9: 50,516,273 (GRCm39)	E42G	probably benign	Het
Togaram1	T	A	12: 65,014,168 (GRCm39)	L473*	probably null	Het
Trappc12	A	G	12: 28,797,457 (GRCm39)	I25T	probably benign	Het
Trim33	T	C	3: 103,244,823 (GRCm39)	S737P	possibly damaging	Het
Trmt1	A	C	8: 85,424,330 (GRCm39)	H455P	probably damaging	Het
Ttll2	T	A	17: 7,618,707 (GRCm39)	T407S	probably benign	Het
Unc45b	T	A	11: 82,816,986 (GRCm39)	N475K	probably damaging	Het
Usp48	T	A	4: 137,321,812 (GRCm39)	I40N	probably benign	Het
Wdr7	T	G	18: 64,037,236 (GRCm39)	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,461,149 (GRCm39)	I328F	probably 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
R7179:Trpc1	UTSW	9	95,603,197 (GRCm39)	missense	possibly damaging	0.82
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
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'- AGGTAAGCCATTCAAAGGACTG -3'
(R):5'- GGGTATAGTTAACCCAAGAGCTAG -3'

Sequencing Primer
(F):5'- TAAGCCATTCAAAGGACTGAAAAAG -3'
(R):5'- GGATGATTTGGTCAGACATT -3'

Posted On

2022-11-14