Incidental Mutation 'R0443:Trpc2'
ID 39276
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 038644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0443 (G1)
Quality Score 209
Status Validated (trace)
Chromosome 7
Chromosomal Location 101732323-101745603 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 101742727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000084843] [ENSMUST00000094128] [ENSMUST00000094129] [ENSMUST00000106934] [ENSMUST00000106935] [ENSMUST00000106937] [ENSMUST00000123372] [ENSMUST00000139104] [ENSMUST00000124189]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084843
SMART Domains Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 29 255 3.6e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094129
SMART Domains Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000139104
SMART Domains Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 3.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155078
SMART Domains Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 4.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124189
SMART Domains Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b G T 5: 26,053,409 (GRCm39) R246L probably damaging Het
Adam18 T C 8: 25,119,653 (GRCm39) probably null Het
Ankhd1 A G 18: 36,777,652 (GRCm39) S1612G possibly damaging Het
Caskin1 C T 17: 24,724,374 (GRCm39) A1054V probably damaging Het
Casz1 T C 4: 149,033,368 (GRCm39) V1380A possibly damaging Het
Ccn2 T C 10: 24,471,701 (GRCm39) probably benign Het
Cnot6l T G 5: 96,239,604 (GRCm39) probably benign Het
Crat T C 2: 30,293,640 (GRCm39) probably benign Het
Cux2 C T 5: 122,025,500 (GRCm39) R56H possibly damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Dync2h1 G T 9: 7,167,244 (GRCm39) probably null Het
Epg5 T C 18: 77,999,118 (GRCm39) probably benign Het
Ergic3 G A 2: 155,858,707 (GRCm39) V278M probably benign Het
Fam20b A T 1: 156,509,023 (GRCm39) D396E probably benign Het
Gapvd1 A G 2: 34,594,633 (GRCm39) probably benign Het
Golga1 A T 2: 38,908,453 (GRCm39) S749T probably damaging Het
Gsdma2 C T 11: 98,548,514 (GRCm39) T255I probably damaging Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Itgam C T 7: 127,680,806 (GRCm39) A245V probably damaging Het
Kcnk15 A G 2: 163,700,243 (GRCm39) T161A probably benign Het
Map3k19 A T 1: 127,750,152 (GRCm39) N1066K probably benign Het
Ms4a6b A G 19: 11,499,044 (GRCm39) I53V possibly damaging Het
Mtf1 C T 4: 124,718,075 (GRCm39) probably benign Het
Neb T C 2: 52,051,489 (GRCm39) probably null Het
Nop9 A G 14: 55,991,205 (GRCm39) S621G probably benign Het
Or1e19 A G 11: 73,316,581 (GRCm39) V76A probably damaging Het
Or5p60 A G 7: 107,724,023 (GRCm39) V149A probably benign Het
Or9a2 T A 6: 41,748,829 (GRCm39) I135F possibly damaging Het
Pacs1 A T 19: 5,322,611 (GRCm39) Y102* probably null Het
Pcdhb10 A C 18: 37,545,485 (GRCm39) D187A probably damaging Het
Pih1d2 A G 9: 50,532,403 (GRCm39) R170G possibly damaging Het
Pikfyve A G 1: 65,235,865 (GRCm39) H179R probably damaging Het
Pknox1 A G 17: 31,811,193 (GRCm39) S156G probably damaging Het
Prkcz T A 4: 155,353,597 (GRCm39) D250V probably damaging Het
Psg16 T A 7: 16,829,088 (GRCm39) I224N probably benign Het
Ro60 A G 1: 143,641,661 (GRCm39) probably benign Het
Slc25a40 T A 5: 8,497,348 (GRCm39) S229T probably benign Het
Slc43a2 T C 11: 75,435,493 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tas2r129 G T 6: 132,928,159 (GRCm39) C32F probably benign Het
Tfap2d C T 1: 19,174,591 (GRCm39) R15C possibly damaging Het
Tonsl T C 15: 76,523,884 (GRCm39) S39G probably benign Het
Ttc17 A G 2: 94,208,439 (GRCm39) F144S probably benign Het
Twnk G T 19: 44,996,578 (GRCm39) G337V possibly damaging Het
Uvssa A G 5: 33,546,168 (GRCm39) R180G possibly damaging Het
Vmn1r197 T A 13: 22,512,241 (GRCm39) I54K possibly damaging Het
Vmn1r71 G A 7: 10,482,238 (GRCm39) T84I probably benign Het
Zbtb49 T C 5: 38,358,174 (GRCm39) E693G probably benign Het
Other mutations in Trpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5093:Trpc2 UTSW 7 101,744,390 (GRCm39) missense probably benign
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'- AAGTGTCCATATTCACAAGGGTGGC -3'
(R):5'- GCGCACAGAGCATTAGACTTGGAG -3'

Sequencing Primer
(F):5'- GGGTGGCTCAAAAGGCTTC -3'
(R):5'- CATTAGACTTGGAGTCTGCCCATAG -3'
Posted On 2013-05-23