Incidental Mutation 'R8985:Crtc1'
ID 683968
Institutional Source Beutler Lab
Gene Symbol Crtc1
Ensembl Gene ENSMUSG00000003575
Gene Name CREB regulated transcription coactivator 1
Synonyms Mect1, TORC1
MMRRC Submission 068818-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R8985 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70835005-70892229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70855092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 176 (H176P)
Ref Sequence ENSEMBL: ENSMUSP00000075916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076615]
AlphaFold Q68ED7
Predicted Effect probably damaging
Transcript: ENSMUST00000076615
AA Change: H176P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: H176P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,141,860 (GRCm39) probably benign Het
Agbl1 C A 7: 75,969,904 (GRCm39) S53R Het
Ahr T C 12: 35,576,736 (GRCm39) K65R possibly damaging Het
AI429214 A T 8: 37,460,820 (GRCm39) probably benign Het
Ankrd52 T C 10: 128,222,978 (GRCm39) S643P probably damaging Het
Asz1 T C 6: 18,051,336 (GRCm39) T448A probably benign Het
Atp10a A G 7: 58,438,092 (GRCm39) I425V probably benign Het
Casd1 T A 6: 4,624,399 (GRCm39) Y397* probably null Het
Ccdc162 A G 10: 41,432,102 (GRCm39) I1797T probably damaging Het
Cdc20b A T 13: 113,196,330 (GRCm39) R152* probably null Het
Cdc25b T C 2: 131,035,180 (GRCm39) C313R probably damaging Het
Cfap73 T A 5: 120,768,123 (GRCm39) T212S probably benign Het
Chd9 G T 8: 91,721,101 (GRCm39) R963L unknown Het
Clip4 G T 17: 72,113,527 (GRCm39) V226F probably damaging Het
Cmya5 A G 13: 93,233,664 (GRCm39) S475P possibly damaging Het
Cntn5 A G 9: 10,171,960 (GRCm39) Y75H possibly damaging Het
Cspg5 T C 9: 110,085,502 (GRCm39) W558R unknown Het
Cyp2c39 A G 19: 39,552,419 (GRCm39) T371A probably benign Het
Dcaf8 G A 1: 172,000,199 (GRCm39) R119H probably benign Het
Drosha G T 15: 12,924,187 (GRCm39) A1190S possibly damaging Het
Dst T C 1: 34,288,886 (GRCm39) V5655A probably benign Het
Etnk1 C G 6: 143,140,953 (GRCm39) probably benign Het
Flnc T A 6: 29,440,499 (GRCm39) V269D probably benign Het
Foxs1 T A 2: 152,775,058 (GRCm39) probably benign Het
Ftsj3 T C 11: 106,141,595 (GRCm39) Y551C possibly damaging Het
Fzd6 A T 15: 38,895,019 (GRCm39) H395L probably damaging Het
Grm6 C T 11: 50,746,537 (GRCm39) A289V possibly damaging Het
Hook1 A G 4: 95,910,468 (GRCm39) D694G probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igha T C 12: 113,222,611 (GRCm39) E270G Het
Itga2b C A 11: 102,356,288 (GRCm39) probably benign Het
Jade1 A C 3: 41,568,148 (GRCm39) S739R probably benign Het
Lpin3 T C 2: 160,738,674 (GRCm39) S209P probably benign Het
Ly6i A C 15: 74,851,806 (GRCm39) L121R probably damaging Het
Ms4a1 C T 19: 11,232,055 (GRCm39) V107I probably benign Het
Mycbpap T A 11: 94,404,722 (GRCm39) T74S probably benign Het
Nlrp14 A G 7: 106,796,436 (GRCm39) N921D probably benign Het
Nmur1 C T 1: 86,314,103 (GRCm39) E388K probably benign Het
Nol4 T C 18: 23,085,294 (GRCm39) Y40C probably damaging Het
Or1e1c T C 11: 73,266,252 (GRCm39) S229P possibly damaging Het
Or51k1 A T 7: 103,661,367 (GRCm39) C181S probably damaging Het
Or8b51 A T 9: 38,569,621 (GRCm39) Y22* probably null Het
Pawr G A 10: 108,247,861 (GRCm39) V283M possibly damaging Het
Pde6b T C 5: 108,578,503 (GRCm39) Y814H probably benign Het
Pds5b T A 5: 150,724,239 (GRCm39) L1272H probably benign Het
Pkd1l2 T C 8: 117,764,849 (GRCm39) T1350A probably benign Het
Plcz1 T A 6: 139,961,903 (GRCm39) Q216L possibly damaging Het
Prodh A T 16: 17,890,362 (GRCm39) C522S probably null Het
Rasef G T 4: 73,708,960 (GRCm39) P91Q possibly damaging Het
Rgs14 G A 13: 55,531,234 (GRCm39) probably benign Het
Rnase6 A T 14: 51,367,632 (GRCm39) Y8F unknown Het
Rnf216 T A 5: 143,076,180 (GRCm39) T235S probably benign Het
Slco2a1 G A 9: 102,949,834 (GRCm39) probably null Het
Smoc1 A G 12: 81,226,261 (GRCm39) E362G probably damaging Het
Sncaip T C 18: 53,002,169 (GRCm39) L230P probably benign Het
Tdrd3 A G 14: 87,743,597 (GRCm39) E515G possibly damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Tmem9 T A 1: 135,955,145 (GRCm39) V93D possibly damaging Het
Tpm3-rs7 A C 14: 113,552,756 (GRCm39) I217L probably benign Het
Ttc41 A T 10: 86,566,956 (GRCm39) I541F possibly damaging Het
Uck2 T C 1: 167,070,681 (GRCm39) D16G probably benign Het
Vmn1r50 A G 6: 90,085,017 (GRCm39) D254G probably benign Het
Vmn2r50 A C 7: 9,779,974 (GRCm39) F469C probably damaging Het
Vmn2r57 A G 7: 41,049,259 (GRCm39) V830A probably benign Het
Wwc2 T A 8: 48,331,919 (GRCm39) R299S probably benign Het
Xdh C T 17: 74,228,346 (GRCm39) G352R probably damaging Het
Xkr9 A T 1: 13,770,990 (GRCm39) M169L probably benign Het
Zbtb10 A G 3: 9,345,807 (GRCm39) D767G probably damaging Het
Zfp106 T C 2: 120,366,077 (GRCm39) Y65C Het
Zfp536 A G 7: 37,268,228 (GRCm39) L396P probably damaging Het
Znhit1 C A 5: 137,011,408 (GRCm39) C135F probably damaging Het
Zscan5b A G 7: 6,241,834 (GRCm39) E351G probably damaging 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
R0833: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
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'- GAGTAAACAAATCCTCTCTGCTCTGC -3'
(R):5'- CTTGTGGGAATTAAGACAGTGTC -3'

Sequencing Primer
(F):5'- ACAGCCAGTGTACATCGGC -3'
(R):5'- ACAGTGTCTAACATGGGTAGATC -3'
Posted On 2021-10-11