Incidental Mutation 'R5782:Trpc2'
ID 447803
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 043379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5782 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101732323-101745603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101733186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 419 (D419G)
Ref Sequence ENSEMBL: ENSMUSP00000081903 (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: D419G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: D419G

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: D419G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: D419G

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 benign
Transcript: ENSMUST00000124189
AA Change: D45G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: D45G

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: ENSMUST00000125197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143839
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A T 17: 33,652,735 (GRCm39) Q265L probably benign Het
Adamtsl3 T A 7: 82,189,494 (GRCm39) probably null Het
Agt A T 8: 125,283,870 (GRCm39) probably null Het
Ankrd11 A G 8: 123,626,756 (GRCm39) L142P probably damaging Het
Arhgef19 C A 4: 140,983,623 (GRCm39) Q719K probably damaging Het
Armh3 A G 19: 45,874,466 (GRCm39) V569A probably benign Het
Atrnl1 G T 19: 57,741,718 (GRCm39) W1159L possibly damaging Het
Atxn2 T C 5: 121,935,373 (GRCm39) Y325H probably damaging Het
Brwd1 A T 16: 95,844,243 (GRCm39) Y770* probably null Het
Cdc20 T C 4: 118,290,239 (GRCm39) E474G probably benign Het
Cdk5rap3 A G 11: 96,802,412 (GRCm39) L254P probably benign Het
Cep83 A T 10: 94,584,894 (GRCm39) N333I probably damaging Het
Cox4i2 A C 2: 152,606,731 (GRCm39) D150A probably damaging Het
Cse1l A G 2: 166,770,921 (GRCm39) I314M probably damaging Het
Cuedc1 A G 11: 88,060,858 (GRCm39) Y67C probably damaging Het
Cyp2j9 C T 4: 96,462,142 (GRCm39) V380I probably benign Het
Fancd2 A G 6: 113,525,833 (GRCm39) N302S probably benign Het
Foxa1 T A 12: 57,589,302 (GRCm39) H306L probably benign Het
Gse1 T C 8: 121,293,260 (GRCm39) S204P probably damaging Het
Hspa13 C A 16: 75,554,985 (GRCm39) R367L probably damaging Het
Kcnk2 T G 1: 188,988,776 (GRCm39) D267A probably damaging Het
Kctd18 A G 1: 57,998,396 (GRCm39) Y68H probably damaging Het
Khdc4 T G 3: 88,618,985 (GRCm39) V563G probably damaging Het
Klf7 C T 1: 64,081,570 (GRCm39) E253K possibly damaging Het
Lcn12 A T 2: 25,383,769 (GRCm39) F34I probably damaging Het
Lrrk2 A T 15: 91,586,386 (GRCm39) R401W probably damaging Het
Lzts1 A T 8: 69,593,350 (GRCm39) S86T probably benign Het
Mtres1 T C 10: 43,408,899 (GRCm39) I81M probably benign Het
Mtus1 T A 8: 41,535,764 (GRCm39) I651F probably damaging Het
Myl2 T A 5: 122,242,933 (GRCm39) F106L probably damaging Het
Neb T A 2: 52,154,059 (GRCm39) K2351* probably null Het
Or14c45 T A 7: 86,176,421 (GRCm39) I152N probably damaging Het
Or52e5 T C 7: 104,718,956 (GRCm39) I94T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Parg A T 14: 31,996,862 (GRCm39) R318* probably null Het
Pcdhga3 C T 18: 37,809,353 (GRCm39) S602F possibly damaging Het
Pcnx2 A G 8: 126,480,223 (GRCm39) V2028A probably damaging Het
Pkhd1 T C 1: 20,128,824 (GRCm39) T3960A probably benign Het
Psen1 T A 12: 83,759,233 (GRCm39) H81Q possibly damaging Het
Psma6 A G 12: 55,457,041 (GRCm39) N109S possibly damaging Het
Ptpro A T 6: 137,376,496 (GRCm39) I659F possibly damaging Het
Rap1gds1 C G 3: 138,664,840 (GRCm39) E288D possibly damaging Het
Reln C T 5: 22,223,054 (GRCm39) R993K probably benign Het
Saxo1 T A 4: 86,364,044 (GRCm39) L146F probably damaging Het
Six4 A G 12: 73,150,832 (GRCm39) V571A probably benign Het
Slc2a10 C A 2: 165,356,758 (GRCm39) Y139* probably null Het
Slc34a1 A G 13: 55,550,501 (GRCm39) I66V possibly damaging Het
Slfn8 G T 11: 82,907,867 (GRCm39) N46K probably damaging Het
Smc6 G C 12: 11,340,835 (GRCm39) A496P probably damaging Het
Stk31 T G 6: 49,446,070 (GRCm39) N902K probably benign Het
Stk36 T A 1: 74,644,584 (GRCm39) Y114N possibly damaging Het
Sult2b1 C T 7: 45,380,770 (GRCm39) V271M probably damaging Het
Tenm4 A G 7: 96,542,246 (GRCm39) I1920V probably benign Het
Trbc2 A G 6: 41,523,871 (GRCm39) probably benign Het
Trpm7 T C 2: 126,639,634 (GRCm39) N1654S probably benign Het
Tsku A T 7: 98,002,057 (GRCm39) D91E probably damaging Het
Ttn T A 2: 76,606,355 (GRCm39) R18151S probably damaging Het
Tyr C T 7: 87,142,224 (GRCm39) C112Y probably damaging Het
Ubash3a G A 17: 31,454,477 (GRCm39) G435S probably benign Het
Vav1 T C 17: 57,603,001 (GRCm39) I51T probably damaging Het
Vmn2r61 T A 7: 41,949,253 (GRCm39) C558S probably damaging Het
Zan C T 5: 137,418,269 (GRCm39) C2943Y unknown Het
Zfp1002 T C 2: 150,097,438 (GRCm39) E25G probably benign Het
Zfp267 T C 3: 36,219,128 (GRCm39) S384P possibly damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp575 C A 7: 24,285,027 (GRCm39) G205C possibly damaging Het
Zfp740 G T 15: 102,116,801 (GRCm39) probably benign Het
Zzz3 A G 3: 152,133,737 (GRCm39) E265G possibly 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
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
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'- ACAGTATGTGTTGCCGATCTG -3'
(R):5'- TTTGTGTCCACAGCCACTAG -3'

Sequencing Primer
(F):5'- CGAGGAAGGCATGATAGCTGATTAC -3'
(R):5'- ACTAGCAGGGCTTCGTGGATC -3'
Posted On 2016-12-15