Incidental Mutation 'R6221:Cftr'
ID 504016
Institutional Source Beutler Lab
Gene Symbol Cftr
Ensembl Gene ENSMUSG00000041301
Gene Name cystic fibrosis transmembrane conductance regulator
Synonyms Abcc7
MMRRC Submission 044432-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R6221 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 18170686-18322767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 18282500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 1067 (T1067P)
Ref Sequence ENSEMBL: ENSMUSP00000049228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045706] [ENSMUST00000115405] [ENSMUST00000115406] [ENSMUST00000140407]
AlphaFold P26361
PDB Structure mouse CFTR NBD1 with AMP.PNP [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) apo [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ADP [X-RAY DIFFRACTION]
Phosphorylated Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP, I4122 space group [X-RAY DIFFRACTION]
Structure of NBD1 from murine CFTR- F508S mutant [X-RAY DIFFRACTION]
Structure of NBD1 from murine CFTR- F508R mutant [X-RAY DIFFRACTION]
The crystal structure of the NBD1 domain of the mouse CFTR protein, deltaF508 mutant [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000045706
AA Change: T1067P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: T1067P

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 3.7e-40 PFAM
AAA 450 623 2.16e-12 SMART
Pfam:CFTR_R 639 844 2e-93 PFAM
Pfam:ABC_membrane 857 1142 2.7e-53 PFAM
AAA 1232 1414 9.94e-12 SMART
low complexity region 1465 1474 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115405
SMART Domains Protein: ENSMUSP00000111064
Gene: ENSMUSG00000041301

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 1.4e-48 PFAM
Pfam:ABC_tran 441 570 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115406
AA Change: T1037P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: T1037P

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 167 4e-14 PFAM
Pfam:ABC_membrane 162 320 2.5e-20 PFAM
AAA 420 593 2.16e-12 SMART
Pfam:CFTR_R 609 815 1.3e-97 PFAM
Pfam:ABC_membrane 827 1112 1e-50 PFAM
AAA 1202 1384 9.94e-12 SMART
low complexity region 1435 1444 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140407
SMART Domains Protein: ENSMUSP00000116957
Gene: ENSMUSG00000041301

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 1.2e-48 PFAM
Pfam:ABC_tran 441 568 6.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143135
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,824,874 (GRCm39) M108V probably benign Het
Adgrl1 C T 8: 84,664,316 (GRCm39) Q1236* probably null Het
Adprhl1 T C 8: 13,275,634 (GRCm39) I375V probably benign Het
Bsn A G 9: 107,982,765 (GRCm39) S3663P unknown Het
Cfap44 A T 16: 44,257,549 (GRCm39) Q1028L probably benign Het
Col1a2 T C 6: 4,539,490 (GRCm39) S1253P unknown Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Dmxl1 A G 18: 50,004,799 (GRCm39) Y949C probably damaging Het
E130311K13Rik T C 3: 63,823,152 (GRCm39) Y164C probably benign Het
Evx1 T A 6: 52,293,768 (GRCm39) V312E probably damaging Het
Fam240b T C 13: 64,629,591 (GRCm39) N75S probably benign Het
Fat2 A G 11: 55,186,898 (GRCm39) probably null Het
Fbn1 G T 2: 125,162,841 (GRCm39) D2148E probably benign Het
Fzd4 A G 7: 89,054,100 (GRCm39) H69R probably damaging Het
Fzd6 T C 15: 38,894,239 (GRCm39) V135A probably benign Het
Gimap8 T C 6: 48,635,876 (GRCm39) L547S probably damaging Het
Gnrhr G A 5: 86,333,262 (GRCm39) Q203* probably null Het
Gpaa1 T G 15: 76,218,032 (GRCm39) V341G probably benign Het
Grik3 T A 4: 125,598,916 (GRCm39) L828Q probably damaging Het
Heatr5b T C 17: 79,074,383 (GRCm39) N1568S probably benign Het
Hpf1 T A 8: 61,346,808 (GRCm39) V41E probably damaging Het
Hsd3b1 A T 3: 98,760,472 (GRCm39) M173K probably benign Het
Hsd3b6 A G 3: 98,713,849 (GRCm39) I150T probably benign Het
Ica1 C G 6: 8,644,181 (GRCm39) L369F possibly damaging Het
Inf2 T G 12: 112,570,179 (GRCm39) S293A possibly damaging Het
Klra10 T C 6: 130,246,235 (GRCm39) T247A probably benign Het
Kpna1 G A 16: 35,841,058 (GRCm39) G91D probably benign Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Ltb4r2 C T 14: 55,999,540 (GRCm39) R54W probably damaging Het
Mki67 A G 7: 135,299,643 (GRCm39) F1797S probably benign Het
Mlh3 C A 12: 85,315,192 (GRCm39) Q331H possibly damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Odad1 T C 7: 45,596,903 (GRCm39) L410P probably damaging Het
Or5b124 T A 19: 13,610,830 (GRCm39) Y118* probably null Het
Oxct2b T C 4: 123,010,601 (GRCm39) Y174H probably damaging Het
Pakap C T 4: 57,855,618 (GRCm39) Q559* probably null Het
Pclo G A 5: 14,725,327 (GRCm39) R1395Q unknown Het
Ppara A G 15: 85,661,881 (GRCm39) I41V probably benign Het
Ppip5k2 A T 1: 97,657,753 (GRCm39) I766K probably damaging Het
Ppm1j A G 3: 104,693,092 (GRCm39) N483S possibly damaging Het
Prex2 T C 1: 11,336,236 (GRCm39) I1478T probably benign Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rsl1d1 A G 16: 11,019,175 (GRCm39) V121A probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Slc15a1 T C 14: 121,702,316 (GRCm39) Q610R probably null Het
Slc1a6 A G 10: 78,635,910 (GRCm39) E325G probably damaging Het
Slc7a13 A G 4: 19,839,305 (GRCm39) I303V probably benign Het
Smc3 T A 19: 53,630,362 (GRCm39) V1123E probably damaging Het
Smco1 G A 16: 32,092,023 (GRCm39) V34I probably benign Het
Spag1 A G 15: 36,197,949 (GRCm39) R304G probably benign Het
Spata31f1e A T 4: 42,793,153 (GRCm39) N326K probably benign Het
Spta1 A G 1: 174,009,342 (GRCm39) D293G probably damaging Het
Sspo C A 6: 48,440,639 (GRCm39) P1751Q probably damaging Het
Syt14 A T 1: 192,612,908 (GRCm39) Y631N probably damaging Het
Taar3 A G 10: 23,825,970 (GRCm39) N172S possibly damaging Het
Tank A G 2: 61,480,427 (GRCm39) E321G probably damaging Het
Tcstv5 T G 13: 120,411,534 (GRCm39) H24P probably damaging Het
Thbs1 C A 2: 117,950,478 (GRCm39) L704M probably damaging Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Togaram1 A T 12: 65,013,320 (GRCm39) E190D probably damaging Het
Traf1 A C 2: 34,838,313 (GRCm39) V175G probably benign Het
Trib3 A T 2: 152,180,528 (GRCm39) C222S probably damaging Het
Tsen34 T A 7: 3,698,543 (GRCm39) I229N probably damaging Het
Ttc28 A G 5: 111,419,114 (GRCm39) D1370G probably benign Het
Ugt1a5 G A 1: 88,093,964 (GRCm39) R64H probably benign Het
Vdac2 G A 14: 21,895,246 (GRCm39) G265R possibly damaging Het
Vdac3 A G 8: 23,078,759 (GRCm39) V17A possibly damaging Het
Yif1b C T 7: 28,945,207 (GRCm39) T220I possibly damaging Het
Zfp846 T G 9: 20,504,591 (GRCm39) H150Q possibly damaging Het
Zwilch A T 9: 64,068,665 (GRCm39) H181Q probably damaging Het
Other mutations in Cftr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Cftr APN 6 18,268,429 (GRCm39) critical splice donor site probably null
IGL01082:Cftr APN 6 18,226,102 (GRCm39) missense probably damaging 0.97
IGL01113:Cftr APN 6 18,270,252 (GRCm39) missense probably damaging 1.00
IGL01383:Cftr APN 6 18,226,040 (GRCm39) missense probably benign 0.00
IGL01595:Cftr APN 6 18,198,238 (GRCm39) splice site probably benign
IGL01820:Cftr APN 6 18,226,138 (GRCm39) missense probably damaging 1.00
IGL02223:Cftr APN 6 18,221,481 (GRCm39) missense probably damaging 1.00
IGL02249:Cftr APN 6 18,277,870 (GRCm39) missense possibly damaging 0.58
IGL02439:Cftr APN 6 18,258,237 (GRCm39) nonsense probably null
IGL02537:Cftr APN 6 18,274,596 (GRCm39) missense probably benign 0.31
IGL03234:Cftr APN 6 18,225,987 (GRCm39) missense probably damaging 0.96
BB004:Cftr UTSW 6 18,267,970 (GRCm39) missense possibly damaging 0.81
BB014:Cftr UTSW 6 18,267,970 (GRCm39) missense possibly damaging 0.81
PIT4453001:Cftr UTSW 6 18,214,105 (GRCm39) missense probably damaging 0.99
PIT4520001:Cftr UTSW 6 18,277,842 (GRCm39) missense probably benign 0.01
R0114:Cftr UTSW 6 18,282,447 (GRCm39) missense probably damaging 1.00
R0329:Cftr UTSW 6 18,226,096 (GRCm39) missense probably null 1.00
R0330:Cftr UTSW 6 18,226,096 (GRCm39) missense probably null 1.00
R0331:Cftr UTSW 6 18,235,225 (GRCm39) missense possibly damaging 0.72
R0480:Cftr UTSW 6 18,274,517 (GRCm39) splice site probably benign
R0612:Cftr UTSW 6 18,198,125 (GRCm39) missense probably benign 0.01
R0633:Cftr UTSW 6 18,305,979 (GRCm39) missense probably damaging 0.99
R0830:Cftr UTSW 6 18,270,224 (GRCm39) missense probably benign 0.02
R1559:Cftr UTSW 6 18,225,936 (GRCm39) missense probably benign 0.01
R1629:Cftr UTSW 6 18,226,105 (GRCm39) missense probably damaging 1.00
R1636:Cftr UTSW 6 18,226,156 (GRCm39) missense probably damaging 0.99
R1860:Cftr UTSW 6 18,268,288 (GRCm39) missense probably benign 0.00
R2043:Cftr UTSW 6 18,320,934 (GRCm39) missense probably benign
R2211:Cftr UTSW 6 18,214,279 (GRCm39) missense probably null 0.13
R4737:Cftr UTSW 6 18,299,882 (GRCm39) missense probably benign 0.19
R4793:Cftr UTSW 6 18,226,087 (GRCm39) missense probably damaging 1.00
R4857:Cftr UTSW 6 18,320,974 (GRCm39) missense possibly damaging 0.92
R4984:Cftr UTSW 6 18,235,198 (GRCm39) missense possibly damaging 0.89
R4999:Cftr UTSW 6 18,221,613 (GRCm39) missense probably benign 0.17
R5045:Cftr UTSW 6 18,230,080 (GRCm39) missense probably benign 0.20
R5183:Cftr UTSW 6 18,299,832 (GRCm39) missense probably damaging 0.99
R5197:Cftr UTSW 6 18,255,413 (GRCm39) missense probably benign 0.00
R5288:Cftr UTSW 6 18,226,128 (GRCm39) nonsense probably null
R5337:Cftr UTSW 6 18,319,058 (GRCm39) missense probably damaging 1.00
R5549:Cftr UTSW 6 18,227,953 (GRCm39) missense probably benign 0.00
R5596:Cftr UTSW 6 18,268,095 (GRCm39) missense probably benign 0.00
R5651:Cftr UTSW 6 18,255,364 (GRCm39) splice site probably null
R5660:Cftr UTSW 6 18,313,686 (GRCm39) missense probably benign 0.22
R5941:Cftr UTSW 6 18,313,645 (GRCm39) missense probably damaging 1.00
R6222:Cftr UTSW 6 18,282,500 (GRCm39) missense probably benign 0.00
R6229:Cftr UTSW 6 18,220,683 (GRCm39) missense probably damaging 1.00
R6256:Cftr UTSW 6 18,274,660 (GRCm39) missense probably damaging 0.96
R6257:Cftr UTSW 6 18,282,500 (GRCm39) missense probably benign 0.00
R6412:Cftr UTSW 6 18,285,603 (GRCm39) missense probably damaging 0.97
R6459:Cftr UTSW 6 18,258,235 (GRCm39) missense probably damaging 1.00
R6558:Cftr UTSW 6 18,222,527 (GRCm39) missense probably damaging 1.00
R6724:Cftr UTSW 6 18,255,973 (GRCm39) nonsense probably null
R6787:Cftr UTSW 6 18,274,607 (GRCm39) nonsense probably null
R6861:Cftr UTSW 6 18,268,107 (GRCm39) missense probably benign 0.00
R6888:Cftr UTSW 6 18,313,729 (GRCm39) critical splice donor site probably null
R7084:Cftr UTSW 6 18,226,137 (GRCm39) missense probably benign 0.17
R7105:Cftr UTSW 6 18,318,971 (GRCm39) missense probably damaging 1.00
R7320:Cftr UTSW 6 18,319,012 (GRCm39) missense probably damaging 0.97
R7359:Cftr UTSW 6 18,221,623 (GRCm39) missense probably benign 0.00
R7466:Cftr UTSW 6 18,227,972 (GRCm39) missense probably benign
R7502:Cftr UTSW 6 18,214,295 (GRCm39) missense probably damaging 1.00
R7748:Cftr UTSW 6 18,277,888 (GRCm39) critical splice donor site probably null
R7808:Cftr UTSW 6 18,204,204 (GRCm39) missense probably benign
R7817:Cftr UTSW 6 18,267,967 (GRCm39) missense probably damaging 0.97
R7927:Cftr UTSW 6 18,267,970 (GRCm39) missense possibly damaging 0.81
R7968:Cftr UTSW 6 18,226,048 (GRCm39) missense probably benign 0.00
R7995:Cftr UTSW 6 18,214,155 (GRCm39) missense probably damaging 1.00
R8171:Cftr UTSW 6 18,258,287 (GRCm39) missense probably damaging 1.00
R8210:Cftr UTSW 6 18,220,696 (GRCm39) missense probably damaging 1.00
R8548:Cftr UTSW 6 18,273,698 (GRCm39) missense possibly damaging 0.87
R8712:Cftr UTSW 6 18,274,696 (GRCm39) missense probably damaging 0.99
R8737:Cftr UTSW 6 18,319,728 (GRCm39) missense probably damaging 1.00
R8926:Cftr UTSW 6 18,268,003 (GRCm39) missense possibly damaging 0.83
R8979:Cftr UTSW 6 18,227,947 (GRCm39) missense probably benign 0.10
R8996:Cftr UTSW 6 18,255,945 (GRCm39) nonsense probably null
R9087:Cftr UTSW 6 18,214,180 (GRCm39) missense possibly damaging 0.91
R9115:Cftr UTSW 6 18,235,310 (GRCm39) missense probably damaging 1.00
R9406:Cftr UTSW 6 18,299,866 (GRCm39) missense probably benign 0.00
R9689:Cftr UTSW 6 18,313,649 (GRCm39) missense probably damaging 0.99
R9700:Cftr UTSW 6 18,268,359 (GRCm39) missense probably damaging 1.00
R9747:Cftr UTSW 6 18,285,636 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- CGTGAAGTTACTCTGGAGTTCATC -3'
(R):5'- CACATATTTGCTATCTGACTCAGTGTC -3'

Sequencing Primer
(F):5'- CTCTGGAGTTCATCTTTGTCAGAAAC -3'
(R):5'- GCAAAGAAATTACTTGTAAGCTCTAC -3'
Posted On 2018-02-28