Mutagenetix > Incidental Mutation

Incidental Mutation 'R5093:Trpc2'

387929

Institutional Source

Beutler Lab

Gene Symbol

Trpc2

Ensembl Gene

ENSMUSG00000100254

Gene Name

transient receptor potential cation channel, subfamily C, member 2

Synonyms

Trrp2, TRPC2a, 3010009O07Rik, mTrp2, trp2, TRPC2b

MMRRC Submission

042682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5093 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

101732323-101745603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101744390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 721 (R721G)

Ref Sequence

ENSEMBL: ENSMUSP00000116934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084843] [ENSMUST00000094128] [ENSMUST00000094129] [ENSMUST00000106934] [ENSMUST00000106935] [ENSMUST00000106937] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000084843
AA Change: R1095G

SMART Domains

Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: R1095G

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	150	1.4e-54	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
low complexity region	403	415	N/A	INTRINSIC
low complexity region	416	428	N/A	INTRINSIC
ANK	439	469	1.58e3	SMART
low complexity region	484	496	N/A	INTRINSIC
ANK	522	551	1.74e0	SMART
Pfam:TRP_2	557	619	1e-24	PFAM
Pfam:Ion_trans	716	1024	1.7e-24	PFAM
Pfam:PKD_channel	774	1019	2.4e-12	PFAM
low complexity region	1070	1081	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
coiled coil region	1122	1162	N/A	INTRINSIC
low complexity region	1220	1236	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094128

SMART Domains

Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	255	3.6e-96	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000094129
AA Change: R1095G

SMART Domains

Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: R1095G

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	1.2e-27	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
low complexity region	403	415	N/A	INTRINSIC
low complexity region	416	428	N/A	INTRINSIC
ANK	439	469	1.58e3	SMART
low complexity region	484	496	N/A	INTRINSIC
ANK	522	551	1.74e0	SMART
Pfam:TRP_2	557	619	2.8e-28	PFAM
transmembrane domain	719	741	N/A	INTRINSIC
Pfam:PKD_channel	772	1019	3.8e-12	PFAM
Pfam:Ion_trans	796	1012	3.9e-31	PFAM
low complexity region	1070	1081	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
coiled coil region	1122	1162	N/A	INTRINSIC
low complexity region	1220	1236	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106934

SMART Domains

Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	117	3.7e-29	PFAM
Pfam:ART	114	157	6.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106935

SMART Domains

Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	146	2.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106937

SMART Domains

Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	255	1.9e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123372

SMART Domains

Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	5.2e-29	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
internal_repeat_1	324	345	2.69e-6	PROSPERO
low complexity region	346	379	N/A	INTRINSIC
internal_repeat_1	380	401	2.69e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000124189
AA Change: R721G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: R721G

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
low complexity region	42	54	N/A	INTRINSIC
ANK	65	95	1.58e3	SMART
low complexity region	110	122	N/A	INTRINSIC
ANK	148	177	1.74e0	SMART
Pfam:TRP_2	183	245	9.1e-29	PFAM
transmembrane domain	345	367	N/A	INTRINSIC
Pfam:PKD_channel	398	645	1.4e-12	PFAM
Pfam:Ion_trans	422	638	1e-31	PFAM
low complexity region	696	707	N/A	INTRINSIC
low complexity region	719	730	N/A	INTRINSIC
coiled coil region	748	788	N/A	INTRINSIC
low complexity region	846	862	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211553

Predicted Effect

probably benign
Transcript: ENSMUST00000139104

SMART Domains

Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155078

SMART Domains

Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	4.4e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (90/91)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit altered sexual and social behavior, including intermale mounting and a lack of aggressive behavior in the presence of invading males. Homozygotes for another allele show increased triglyceride levels in both males and femalesand increased cholesterol in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,610,573 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,032,358 (GRCm39)	L753Q	probably damaging	Het
Acvrl1	A	G	15: 101,032,628 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,740,704 (GRCm39)	N141K	probably damaging	Het
Aftph	C	T	11: 20,659,619 (GRCm39)		probably null	Het
Aifm1	C	T	X: 47,571,637 (GRCm39)	G371S	probably benign	Het
Aldh3b2	A	G	19: 4,029,433 (GRCm39)	M269V	probably benign	Het
Ankrd44	T	C	1: 54,802,877 (GRCm39)	Y207C	probably damaging	Het
Arhgap15	G	T	2: 44,212,767 (GRCm39)	M412I	probably damaging	Het
Auts2	A	C	5: 131,468,296 (GRCm39)	L783R	probably damaging	Het
Baiap2l1	A	T	5: 144,215,363 (GRCm39)	Y381N	probably damaging	Het
Baiap3	T	C	17: 25,469,243 (GRCm39)	D180G	probably damaging	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Catsperg2	T	C	7: 29,416,423 (GRCm39)	S330G	probably benign	Het
Ccdc73	A	T	2: 104,848,111 (GRCm39)		probably benign	Het
Cdc5l	A	T	17: 45,703,967 (GRCm39)	F752L	possibly damaging	Het
Celsr2	G	T	3: 108,320,689 (GRCm39)	H708N	possibly damaging	Het
Cep170	T	A	1: 176,596,896 (GRCm39)	K487M	possibly damaging	Het
Cerkl	A	T	2: 79,163,867 (GRCm39)	N66K	probably damaging	Het
Cilk1	G	A	9: 78,047,303 (GRCm39)	V68I	probably benign	Het
Clec11a	C	T	7: 43,954,150 (GRCm39)	A268T	probably damaging	Het
Ctnna2	C	A	6: 77,091,912 (GRCm39)		probably null	Het
Diaph3	C	A	14: 87,222,236 (GRCm39)	R416L	probably damaging	Het
Dnmbp	T	A	19: 43,838,315 (GRCm39)	N1170I	probably damaging	Het
Erbb2	G	T	11: 98,318,279 (GRCm39)	C505F	probably damaging	Het
Ercc6	T	A	14: 32,289,479 (GRCm39)	F904L	probably damaging	Het
Exo5	C	T	4: 120,779,514 (GRCm39)	G117D	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Fbxl5	A	G	5: 43,930,896 (GRCm39)	Y64H	probably damaging	Het
Gabra4	T	A	5: 71,798,207 (GRCm39)	M207L	probably damaging	Het
Galnt15	T	C	14: 31,771,786 (GRCm39)	L277P	probably damaging	Het
Gclm	T	C	3: 122,049,261 (GRCm39)		probably null	Het
Gm5493	T	A	17: 22,966,201 (GRCm39)	C29S	possibly damaging	Het
Grik3	A	G	4: 125,564,382 (GRCm39)	T455A	probably benign	Het
Grm3	A	G	5: 9,639,766 (GRCm39)	V93A	probably benign	Het
Hdgfl2	C	T	17: 56,406,217 (GRCm39)	A535V	possibly damaging	Het
Hfm1	A	T	5: 107,049,597 (GRCm39)	S455T	probably damaging	Het
Hmcn1	T	A	1: 150,613,007 (GRCm39)	D1424V	probably benign	Het
Hsd3b6	C	T	3: 98,715,120 (GRCm39)	V91I	probably benign	Het
Igdcc4	G	A	9: 65,030,039 (GRCm39)	S363N	possibly damaging	Het
Intu	T	C	3: 40,647,347 (GRCm39)	V740A	probably benign	Het
Itga2	C	T	13: 114,992,717 (GRCm39)	V838I	probably benign	Het
Kif9	A	G	9: 110,318,965 (GRCm39)	E143G	probably damaging	Het
Kmt2c	T	A	5: 25,614,205 (GRCm39)	I172F	probably benign	Het
Kmt2d	G	A	15: 98,754,043 (GRCm39)	R21W	probably damaging	Het
Mdh1b	A	T	1: 63,750,620 (GRCm39)	D449E	probably benign	Het
Meis1	T	C	11: 18,831,785 (GRCm39)	I418V	probably benign	Het
Nags	T	A	11: 102,037,395 (GRCm39)	M162K	probably damaging	Het
Nufip1	A	G	14: 76,348,413 (GRCm39)	D14G	probably benign	Het
Or2l13	T	A	16: 19,306,227 (GRCm39)	I213N	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or7g28	T	G	9: 19,272,274 (GRCm39)	I126L	probably damaging	Het
Osmr	A	C	15: 6,850,560 (GRCm39)	V681G	probably damaging	Het
Paxip1	G	T	5: 27,971,282 (GRCm39)	Q356K	unknown	Het
Pcdhac1	T	A	18: 37,223,595 (GRCm39)	F136Y	probably damaging	Het
Pla2g6	A	G	15: 79,171,328 (GRCm39)	V699A	probably benign	Het
Plcb3	A	T	19: 6,943,578 (GRCm39)	V107E	probably damaging	Het
Plch1	T	A	3: 63,681,136 (GRCm39)	I164F	probably damaging	Het
Plpp3	A	T	4: 105,052,077 (GRCm39)	I73F	probably damaging	Het
Plscr5	G	A	9: 92,080,574 (GRCm39)	R20Q	probably benign	Het
Prdm10	G	A	9: 31,252,779 (GRCm39)	R504Q	probably damaging	Het
Prss58	T	C	6: 40,874,751 (GRCm39)	Y30C	probably damaging	Het
Psg19	T	A	7: 18,530,894 (GRCm39)	T87S	probably benign	Het
Ptpn22	T	G	3: 103,789,418 (GRCm39)	M294R	probably benign	Het
Rai1	T	A	11: 60,079,482 (GRCm39)	M1182K	probably benign	Het
Sez6	T	A	11: 77,867,388 (GRCm39)	V795D	possibly damaging	Het
Shcbp1	A	G	8: 4,789,214 (GRCm39)	V535A	possibly damaging	Het
Skint9	A	G	4: 112,246,447 (GRCm39)	Y222H	probably benign	Het
Slc13a3	T	A	2: 165,253,816 (GRCm39)	I446F	probably damaging	Het
Slc2a3	C	T	6: 122,714,196 (GRCm39)	R57H	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Spata31d1b	A	T	13: 59,863,838 (GRCm39)	N329Y	possibly damaging	Het
Strbp	C	T	2: 37,517,499 (GRCm39)	R192K	probably damaging	Het
Tctn3	A	T	19: 40,600,548 (GRCm39)	L14Q	probably damaging	Het
Tenm2	T	A	11: 36,834,989 (GRCm39)	D2V	probably damaging	Het
Tln2	T	G	9: 67,241,596 (GRCm39)	K1003T	probably benign	Het
Tmem63b	T	C	17: 45,971,800 (GRCm39)	E805G	probably damaging	Het
Trhr	A	T	15: 44,060,980 (GRCm39)	N167Y	probably damaging	Het
Ttn	C	A	2: 76,701,267 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,869,288 (GRCm39)	I412T	probably damaging	Het
Zcchc4	T	A	5: 52,953,952 (GRCm39)	S211T	probably benign	Het

Other mutations in Trpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0443:Trpc2	UTSW	7	101,742,727 (GRCm39)	splice site	probably benign
R0601:Trpc2	UTSW	7	101,733,572 (GRCm39)	missense	possibly damaging	0.53
R1303:Trpc2	UTSW	7	101,737,368 (GRCm39)	missense	probably damaging	1.00
R1493:Trpc2	UTSW	7	101,739,783 (GRCm39)	missense	probably damaging	0.97
R1579:Trpc2	UTSW	7	101,733,447 (GRCm39)	missense	probably damaging	0.99
R1829:Trpc2	UTSW	7	101,733,326 (GRCm39)	missense	probably damaging	1.00
R2010:Trpc2	UTSW	7	101,743,780 (GRCm39)	missense	probably benign
R3103:Trpc2	UTSW	7	101,744,441 (GRCm39)	missense	possibly damaging	0.74
R3738:Trpc2	UTSW	7	101,733,711 (GRCm39)	missense	probably damaging	1.00
R3739:Trpc2	UTSW	7	101,733,711 (GRCm39)	missense	probably damaging	1.00
R3938:Trpc2	UTSW	7	101,742,781 (GRCm39)	missense	probably damaging	1.00
R3945:Trpc2	UTSW	7	101,737,486 (GRCm39)	missense	possibly damaging	0.52
R3951:Trpc2	UTSW	7	101,742,781 (GRCm39)	missense	probably damaging	1.00
R3970:Trpc2	UTSW	7	101,733,531 (GRCm39)	missense	probably damaging	1.00
R4035:Trpc2	UTSW	7	101,733,711 (GRCm39)	missense	probably damaging	1.00
R4234:Trpc2	UTSW	7	101,737,342 (GRCm39)	missense	possibly damaging	0.52
R4329:Trpc2	UTSW	7	101,736,727 (GRCm39)	missense	probably damaging	1.00
R4531:Trpc2	UTSW	7	101,745,205 (GRCm39)	missense	probably damaging	1.00
R4857:Trpc2	UTSW	7	101,733,176 (GRCm39)	missense	probably benign	0.18
R5058:Trpc2	UTSW	7	101,738,316 (GRCm39)	missense	probably damaging	1.00
R5485:Trpc2	UTSW	7	101,744,420 (GRCm39)	frame shift	probably null
R5486:Trpc2	UTSW	7	101,744,420 (GRCm39)	frame shift	probably null
R5487:Trpc2	UTSW	7	101,744,420 (GRCm39)	frame shift	probably null
R5782:Trpc2	UTSW	7	101,733,186 (GRCm39)	missense	possibly damaging	0.85
R6379:Trpc2	UTSW	7	101,745,298 (GRCm39)	nonsense	probably null
R6572:Trpc2	UTSW	7	101,739,213 (GRCm39)	missense	probably damaging	1.00
R6674:Trpc2	UTSW	7	101,745,264 (GRCm39)	missense	probably benign	0.36
R7513:Trpc2	UTSW	7	101,739,275 (GRCm39)	missense	probably damaging	0.99
R7962:Trpc2	UTSW	7	101,738,388 (GRCm39)	missense	probably benign	0.05
R8209:Trpc2	UTSW	7	101,737,482 (GRCm39)	missense	possibly damaging	0.93
R8226:Trpc2	UTSW	7	101,737,482 (GRCm39)	missense	possibly damaging	0.93
R8798:Trpc2	UTSW	7	101,733,767 (GRCm39)	missense	probably benign	0.40
R8990:Trpc2	UTSW	7	101,745,195 (GRCm39)	missense	probably benign	0.01
R9124:Trpc2	UTSW	7	101,745,090 (GRCm39)	missense	possibly damaging	0.76
R9186:Trpc2	UTSW	7	101,737,492 (GRCm39)	missense	probably damaging	1.00
R9330:Trpc2	UTSW	7	101,739,764 (GRCm39)	missense	probably benign	0.35
R9364:Trpc2	UTSW	7	101,739,819 (GRCm39)	missense	possibly damaging	0.89
R9391:Trpc2	UTSW	7	101,745,067 (GRCm39)	missense	probably damaging	1.00
R9644:Trpc2	UTSW	7	101,744,439 (GRCm39)	missense	possibly damaging	0.92
RF020:Trpc2	UTSW	7	101,745,433 (GRCm39)	missense	unknown
Z1176:Trpc2	UTSW	7	101,744,504 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGCTGCAGTTCTTCAGG -3'
(R):5'- AGCCTAATGCAGAAGTGTGG -3'

Sequencing Primer
(F):5'- GCAGTTCTTCAGGGGTCTTTCC -3'
(R):5'- TGAGTCTGGGTGTGGACAC -3'

Posted On

2016-06-06