Incidental Mutation 'R3739:Trpc2'
ID 270290
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 040725-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3739 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101732323-101745603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101733711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 220 (S220N)
Ref Sequence ENSEMBL: ENSMUSP00000116934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084843] [ENSMUST00000094129] [ENSMUST00000094130] [ENSMUST00000106950] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104] [ENSMUST00000142629]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000084843
AA Change: S594N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: S594N

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 possibly damaging
Transcript: ENSMUST00000094129
AA Change: S594N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: S594N

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: ENSMUST00000094130
SMART Domains Protein: ENSMUSP00000091680
Gene: ENSMUSG00000099481

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: ENSMUST00000106950
SMART Domains Protein: ENSMUSP00000102563
Gene: ENSMUSG00000099481

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: 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 damaging
Transcript: ENSMUST00000124189
AA Change: S220N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: S220N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153176
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: ENSMUST00000139104
SMART Domains Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 3.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142629
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ahnak2 T C 12: 112,740,992 (GRCm39) I1027V probably benign Het
Alox12e A G 11: 70,210,668 (GRCm39) L318P probably damaging Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Anks1b T A 10: 89,869,078 (GRCm39) I46N probably damaging Het
Apoa5 G C 9: 46,180,415 (GRCm39) W7S probably damaging Het
Arnt2 T C 7: 83,993,009 (GRCm39) H177R probably null Het
Cacna1c T C 6: 118,718,913 (GRCm39) D220G probably benign Het
Dst C T 1: 34,307,975 (GRCm39) probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Galnt1 A G 18: 24,404,712 (GRCm39) T350A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gfm1 T C 3: 67,364,033 (GRCm39) I503T probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Itgbl1 T C 14: 124,204,090 (GRCm39) F394L probably damaging Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Klra17 T A 6: 129,850,328 (GRCm39) I41F probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ms4a18 A T 19: 10,988,863 (GRCm39) H164Q probably damaging Het
Mybbp1a A G 11: 72,339,563 (GRCm39) H882R possibly damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Myo18a A G 11: 77,736,441 (GRCm39) D1514G probably damaging Het
Nsun2 T C 13: 69,777,757 (GRCm39) I441T probably benign Het
Ntng1 A T 3: 109,842,007 (GRCm39) D255E probably damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Pclo A C 5: 14,730,913 (GRCm39) K3138N unknown Het
Pcsk7 A G 9: 45,838,057 (GRCm39) T572A possibly damaging Het
Pex11a C T 7: 79,389,918 (GRCm39) R56H possibly damaging Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Saa4 T A 7: 46,379,053 (GRCm39) N96Y possibly damaging Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Taf3 T C 2: 9,956,469 (GRCm39) E566G possibly damaging Het
Tnr T C 1: 159,750,983 (GRCm39) S1315P possibly damaging Het
Trappc11 T C 8: 47,967,138 (GRCm39) E412G probably damaging Het
Trpm7 A G 2: 126,693,441 (GRCm39) V48A probably damaging Het
Tubb6 A G 18: 67,535,121 (GRCm39) Y340C probably damaging Het
Vmn1r197 C A 13: 22,512,746 (GRCm39) Y222* probably null Het
Vmn2r97 T C 17: 19,148,413 (GRCm39) S103P probably damaging Het
Zfp362 C G 4: 128,680,682 (GRCm39) probably benign Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Trpc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGAGATTGCCCAGCTGCTTATG -3'
(R):5'- AACAAGAGGCTCCATCCCTG -3'

Sequencing Primer
(F):5'- TTATGGACCAGGGCCATACCATTG -3'
(R):5'- AGGCTCCATCCCTGCTTGC -3'
Posted On 2015-03-18