Incidental Mutation 'R7573:Cutc'
ID 586194
Institutional Source Beutler Lab
Gene Symbol Cutc
Ensembl Gene ENSMUSG00000025193
Gene Name cutC copper transporter
Synonyms 2310039I18Rik, CGI-32
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # R7573 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 43741462-43757077 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43748382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 95 (V95A)
Ref Sequence ENSEMBL: ENSMUSP00000107678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026199] [ENSMUST00000112047] [ENSMUST00000153295]
AlphaFold Q9D8X1
Predicted Effect probably benign
Transcript: ENSMUST00000026199
AA Change: V95A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026199
Gene: ENSMUSG00000025193
AA Change: V95A

DomainStartEndE-ValueType
Pfam:CutC 25 216 1.1e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112047
AA Change: V95A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107678
Gene: ENSMUSG00000025193
AA Change: V95A

DomainStartEndE-ValueType
Pfam:CutC 25 226 7.8e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153295
AA Change: V93A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118906
Gene: ENSMUSG00000025193
AA Change: V93A

DomainStartEndE-ValueType
Pfam:CutC 23 224 7.7e-82 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,366,917 (GRCm39) I49F Het
1810055G02Rik T A 19: 3,765,728 (GRCm39) M1K probably null Het
Abcb1b G A 5: 8,878,866 (GRCm39) C750Y possibly damaging Het
Abi2 T A 1: 60,509,867 (GRCm39) V412D probably benign Het
Alk C T 17: 72,207,787 (GRCm39) V983M probably damaging Het
Alppl2 A T 1: 87,015,953 (GRCm39) W266R possibly damaging Het
Arhgef18 A G 8: 3,434,918 (GRCm39) R188G probably damaging Het
Atp2c2 A T 8: 120,478,008 (GRCm39) D695V probably damaging Het
B3gnt4 A T 5: 123,648,718 (GRCm39) I28L probably benign Het
C2cd3 A G 7: 100,068,914 (GRCm39) D536G Het
Cacna1c A G 6: 118,581,406 (GRCm39) S1733P Het
Cacna1e T C 1: 154,601,911 (GRCm39) probably benign Het
Capns1 A G 7: 29,891,960 (GRCm39) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm39) T1030A probably benign Het
Cdh23 T C 10: 60,159,329 (GRCm39) T2151A probably benign Het
Cenpe T A 3: 134,953,220 (GRCm39) L1558Q probably damaging Het
Cfap157 T C 2: 32,667,520 (GRCm39) H521R probably benign Het
Crygs T A 16: 22,624,069 (GRCm39) *179C probably null Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cul9 T C 17: 46,830,836 (GRCm39) T1686A probably benign Het
Cxcl3 A G 5: 90,934,105 (GRCm39) T26A probably benign Het
Dnah9 A G 11: 66,016,041 (GRCm39) V400A probably benign Het
Dysf A T 6: 84,107,104 (GRCm39) N1139I possibly damaging Het
Fam136a G A 6: 86,343,667 (GRCm39) E55K probably benign Het
Fam151a A G 4: 106,600,502 (GRCm39) D179G probably damaging Het
Fam178b T C 1: 36,671,533 (GRCm39) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm39) M41K probably benign Het
Gm9195 T C 14: 72,694,122 (GRCm39) Q1531R probably null Het
Gpr6 A T 10: 40,946,868 (GRCm39) V238D probably damaging Het
Hoxa2 A T 6: 52,140,283 (GRCm39) S234R probably benign Het
Itga4 A G 2: 79,103,337 (GRCm39) T143A probably benign Het
Kcnq2 A G 2: 180,723,382 (GRCm39) S693P probably benign Het
Kif13b A G 14: 65,041,107 (GRCm39) I1732V probably benign Het
Klhl14 A G 18: 21,785,211 (GRCm39) V72A probably benign Het
Krt1c T A 15: 101,722,954 (GRCm39) D348V probably benign Het
Map4k2 A T 19: 6,394,094 (GRCm39) E300D probably benign Het
Mars1 A G 10: 127,138,679 (GRCm39) probably null Het
Mpo A G 11: 87,688,403 (GRCm39) D354G probably benign Het
Mrpl15 T C 1: 4,847,778 (GRCm39) T174A probably damaging Het
Myom2 G A 8: 15,172,450 (GRCm39) C1183Y probably damaging Het
Nfkb2 C A 19: 46,297,082 (GRCm39) Q336K possibly damaging Het
Nlrp2 A G 7: 5,320,468 (GRCm39) probably null Het
Nlrp9b T C 7: 19,753,125 (GRCm39) L10P probably damaging Het
Nrip2 A G 6: 128,377,232 (GRCm39) S53G probably benign Het
Or13a22 G A 7: 140,072,912 (GRCm39) M120I probably damaging Het
Or4k36 T C 2: 111,146,277 (GRCm39) I151T probably benign Het
Or52a5b A G 7: 103,416,677 (GRCm39) M309T probably benign Het
Or52z13 C T 7: 103,246,735 (GRCm39) L71F probably benign Het
Or8b54 A T 9: 38,686,791 (GRCm39) K80I probably damaging Het
Or8g18 C T 9: 39,148,977 (GRCm39) V248I probably benign Het
Pak5 A G 2: 135,958,225 (GRCm39) S288P probably damaging Het
Pjvk T C 2: 76,487,809 (GRCm39) F234L probably benign Het
Plekhm2 T C 4: 141,358,658 (GRCm39) N616D probably benign Het
Pnkp C T 7: 44,506,852 (GRCm39) R9C probably damaging Het
Prom1 A G 5: 44,213,272 (GRCm39) C154R probably damaging Het
Rab3gap2 T A 1: 185,014,579 (GRCm39) W1243R probably benign Het
Rad17 C T 13: 100,765,974 (GRCm39) A385T probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rnf213 T C 11: 119,349,310 (GRCm39) C3804R Het
Ros1 T A 10: 52,046,072 (GRCm39) T153S probably benign Het
Sema4g T C 19: 44,986,010 (GRCm39) S284P probably damaging Het
Septin9 C T 11: 117,090,571 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,574,569 (GRCm39) S236G probably damaging Het
Slc9c1 T C 16: 45,398,256 (GRCm39) F674L probably benign Het
Slfn5 A T 11: 82,849,585 (GRCm39) K361N probably damaging Het
Smad6 A G 9: 63,929,052 (GRCm39) L88S unknown Het
Smarca4 T A 9: 21,550,371 (GRCm39) probably null Het
Smg7 A T 1: 152,735,240 (GRCm39) N198K probably damaging Het
Sorcs1 G A 19: 50,141,234 (GRCm39) Q1166* probably null Het
Stap1 A G 5: 86,238,854 (GRCm39) N212S possibly damaging Het
Tbx2 C G 11: 85,724,138 (GRCm39) A69G possibly damaging Het
Tmc1 C A 19: 20,884,372 (GRCm39) D23Y probably damaging Het
Tmf1 A T 6: 97,135,455 (GRCm39) D940E probably benign Het
Trim27 T A 13: 21,364,770 (GRCm39) C36S probably damaging Het
Unc80 G A 1: 66,560,696 (GRCm39) G808D probably damaging Het
Usp17ld G T 7: 102,900,094 (GRCm39) Y279* probably null Het
Usp40 G A 1: 87,913,794 (GRCm39) A433V probably benign Het
Vmn1r49 G A 6: 90,049,843 (GRCm39) A53V probably benign Het
Vmn1r84 T C 7: 12,095,787 (GRCm39) N302S probably benign Het
Wfdc2 A T 2: 164,407,741 (GRCm39) I137L probably benign Het
Other mutations in Cutc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03245:Cutc APN 19 43,756,621 (GRCm39) missense possibly damaging 0.83
P0028:Cutc UTSW 19 43,753,408 (GRCm39) missense possibly damaging 0.84
PIT4305001:Cutc UTSW 19 43,756,708 (GRCm39) missense probably damaging 0.99
R0095:Cutc UTSW 19 43,741,638 (GRCm39) missense probably benign
R0479:Cutc UTSW 19 43,756,655 (GRCm39) missense probably damaging 1.00
R5635:Cutc UTSW 19 43,744,069 (GRCm39) missense probably benign 0.09
R5898:Cutc UTSW 19 43,748,468 (GRCm39) missense probably benign 0.00
R6150:Cutc UTSW 19 43,748,328 (GRCm39) missense probably damaging 1.00
R6217:Cutc UTSW 19 43,748,436 (GRCm39) missense probably damaging 0.99
R6392:Cutc UTSW 19 43,748,489 (GRCm39) missense possibly damaging 0.58
R8400:Cutc UTSW 19 43,741,644 (GRCm39) missense probably benign
R8817:Cutc UTSW 19 43,744,113 (GRCm39) missense probably benign 0.33
R9133:Cutc UTSW 19 43,755,727 (GRCm39) missense possibly damaging 0.93
R9789:Cutc UTSW 19 43,756,699 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTTGGCACACACTGGCTAG -3'
(R):5'- CTACGGCACAAAGGAGTGTTG -3'

Sequencing Primer
(F):5'- GTCTGATACAGTTCACTCAGGGC -3'
(R):5'- TGCCACATGTACACTTTACCAG -3'
Posted On 2019-10-24