Incidental Mutation 'R5058:Trpc2'
ID 391019
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 042648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101732323-101745603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101738316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 433 (W433R)
Ref Sequence ENSEMBL: ENSMUSP00000116934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084843] [ENSMUST00000094129] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000084843
AA Change: W807R
SMART Domains Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: W807R

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 unknown
Transcript: ENSMUST00000094129
AA Change: W807R
SMART Domains Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: W807R

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: 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: W433R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: W433R

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 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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P 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
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
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'- TAGGCAGGCTGATCATTTAGACAC -3'
(R):5'- TGGTGCTGTCTGAGGCATC -3'

Sequencing Primer
(F):5'- CGACCTGAGTTCAATACCTGAGATG -3'
(R):5'- TGTCTGAGGCATCACGGCAG -3'
Posted On 2016-06-06