Incidental Mutation 'R0833:Crtc1'
ID 77643
Institutional Source Beutler Lab
Gene Symbol Crtc1
Ensembl Gene ENSMUSG00000003575
Gene Name CREB regulated transcription coactivator 1
Synonyms Mect1, TORC1
MMRRC Submission 039012-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 70835005-70892229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70845663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 306 (V306A)
Ref Sequence ENSEMBL: ENSMUSP00000075916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076615]
AlphaFold Q68ED7
Predicted Effect probably benign
Transcript: ENSMUST00000076615
AA Change: V306A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: V306A

DomainStartEndE-ValueType
Pfam:TORC_N 6 66 1.1e-26 PFAM
Pfam:TORC_M 148 289 4.8e-64 PFAM
low complexity region 359 394 N/A INTRINSIC
Pfam:TORC_C 555 630 9.2e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142769
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
MGI Phenotype PHENOTYPE: Mice homozygous for an inactivating mutation in this gene are hyperphagic, obese and infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Ankrd27 A G 7: 35,307,772 (GRCm39) N337S probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tgm3 C T 2: 129,868,602 (GRCm39) probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vav3 A G 3: 109,554,995 (GRCm39) N81S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) probably benign Het
Other mutations in Crtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Crtc1 APN 8 70,892,172 (GRCm39) missense probably benign 0.01
IGL01361:Crtc1 APN 8 70,840,253 (GRCm39) missense probably damaging 1.00
IGL02883:Crtc1 APN 8 70,858,775 (GRCm39) missense probably benign 0.28
R0049:Crtc1 UTSW 8 70,844,509 (GRCm39) critical splice donor site probably null
R0196:Crtc1 UTSW 8 70,838,871 (GRCm39) missense probably damaging 1.00
R0514:Crtc1 UTSW 8 70,855,079 (GRCm39) critical splice donor site probably null
R0588:Crtc1 UTSW 8 70,892,199 (GRCm39) missense probably damaging 0.99
R0744:Crtc1 UTSW 8 70,845,663 (GRCm39) missense probably benign 0.00
R0836:Crtc1 UTSW 8 70,845,663 (GRCm39) missense probably benign 0.00
R0905:Crtc1 UTSW 8 70,843,905 (GRCm39) missense probably damaging 1.00
R1016:Crtc1 UTSW 8 70,844,769 (GRCm39) nonsense probably null
R1300:Crtc1 UTSW 8 70,840,189 (GRCm39) critical splice donor site probably null
R1533:Crtc1 UTSW 8 70,850,949 (GRCm39) missense probably damaging 1.00
R1843:Crtc1 UTSW 8 70,840,802 (GRCm39) missense probably benign 0.00
R2393:Crtc1 UTSW 8 70,840,808 (GRCm39) missense probably benign
R4867:Crtc1 UTSW 8 70,855,164 (GRCm39) missense probably damaging 1.00
R5339:Crtc1 UTSW 8 70,850,383 (GRCm39) splice site probably benign
R6062:Crtc1 UTSW 8 70,858,839 (GRCm39) missense probably damaging 1.00
R6342:Crtc1 UTSW 8 70,892,207 (GRCm39) start codon destroyed probably null 0.95
R6912:Crtc1 UTSW 8 70,850,961 (GRCm39) missense probably damaging 1.00
R7910:Crtc1 UTSW 8 70,840,251 (GRCm39) missense probably benign 0.08
R8852:Crtc1 UTSW 8 70,840,805 (GRCm39) missense probably damaging 1.00
R8860:Crtc1 UTSW 8 70,840,805 (GRCm39) missense probably damaging 1.00
R8985:Crtc1 UTSW 8 70,855,092 (GRCm39) missense probably damaging 0.96
R9539:Crtc1 UTSW 8 70,892,115 (GRCm39) missense probably benign
R9738:Crtc1 UTSW 8 70,840,205 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATTAGTTTTGCCAGGAGCGG -3'
(R):5'- AGAGCCCCATCCCAGGTTTGAC -3'

Sequencing Primer
(F):5'- ttcactcaagaacacacatacac -3'
(R):5'- GGTTTGACCACAGACAGCTTC -3'
Posted On 2013-10-16