Incidental Mutation 'R7105:Cftr'
ID 551102
Institutional Source Beutler Lab
Gene Symbol Cftr
Ensembl Gene ENSMUSG00000041301
Gene Name cystic fibrosis transmembrane conductance regulator
Synonyms Abcc7
MMRRC Submission 045197-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R7105 (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 T at 18318971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1337 (D1337V)
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 damaging
Transcript: ENSMUST00000045706
AA Change: D1337V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: D1337V

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 damaging
Transcript: ENSMUST00000115406
AA Change: D1307V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: D1307V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (65/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,347,842 (GRCm39) I3565N probably damaging Het
Adam8 T C 7: 139,569,968 (GRCm39) E99G probably benign Het
Adnp2 A C 18: 80,171,366 (GRCm39) H1014Q possibly damaging Het
Agbl4 T A 4: 111,423,920 (GRCm39) N315K probably benign Het
Ankrd33b G T 15: 31,305,214 (GRCm39) N183K probably damaging Het
Arhgef39 A G 4: 43,498,913 (GRCm39) S113P possibly damaging Het
Bdp1 G A 13: 100,206,689 (GRCm39) P618S probably damaging Het
Bhlhe40 C T 6: 108,641,997 (GRCm39) P314S possibly damaging Het
Birc2 A C 9: 7,819,442 (GRCm39) I490S probably damaging Het
Blm T C 7: 80,149,516 (GRCm39) I698V probably benign Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
Car12 A G 9: 66,659,688 (GRCm39) T238A probably damaging Het
Cend1 G A 7: 141,007,565 (GRCm39) P85L probably benign Het
Chsy3 T A 18: 59,309,491 (GRCm39) M248K probably damaging Het
Chtf8 A G 8: 107,611,883 (GRCm39) F352S probably damaging Het
Cimip4 T A 15: 78,270,318 (GRCm39) D150V possibly damaging Het
Csf2ra T C 19: 61,213,458 (GRCm39) D384G possibly damaging Het
Ctnnbip1 T C 4: 149,630,937 (GRCm39) S59P probably benign Het
Cyth3 A G 5: 143,693,027 (GRCm39) N312D probably benign Het
Dtnb T C 12: 3,698,391 (GRCm39) probably null Het
Duox2 A G 2: 122,120,033 (GRCm39) S826P possibly damaging Het
Enthd1 C T 15: 80,393,410 (GRCm39) A273T probably benign Het
Gm3138 T C 14: 15,632,304 (GRCm39) V159A possibly damaging Het
Hhip T C 8: 80,701,638 (GRCm39) D632G probably benign Het
Igfn1 A T 1: 135,911,956 (GRCm39) C114S probably benign Het
Islr2 T C 9: 58,105,097 (GRCm39) D765G probably damaging Het
Klf14 TCCCC TCCC 6: 30,935,476 (GRCm39) probably null Het
Mapk12 G A 15: 89,015,361 (GRCm39) P362L probably benign Het
Msi1 T G 5: 115,571,929 (GRCm39) F96V probably damaging Het
Mthfd1l T C 10: 4,053,261 (GRCm39) V870A probably benign Het
Nfat5 T C 8: 108,095,823 (GRCm39) S1355P possibly damaging Het
Oplah T C 15: 76,181,887 (GRCm39) N1079D probably damaging Het
Or2ah1 G T 2: 85,654,224 (GRCm39) R303M probably benign Het
Osbpl1a T A 18: 12,900,020 (GRCm39) I645F probably benign Het
Pank4 T C 4: 155,064,624 (GRCm39) S728P probably benign Het
Parp2 TTGCCATAAGTGCTAAATGAAGCC T 14: 51,047,521 (GRCm39) probably null Het
Piezo1 A G 8: 123,208,857 (GRCm39) I2503T unknown Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhs1 T A 19: 56,465,647 (GRCm39) F204Y probably damaging Het
Pramel26 T C 4: 143,537,341 (GRCm39) N330S probably benign Het
Pramel32 G A 4: 88,548,339 (GRCm39) S22F probably damaging Het
Prep T A 10: 45,002,159 (GRCm39) I438N probably benign Het
Prss58 T C 6: 40,874,700 (GRCm39) H47R probably damaging Het
Rad51ap2 T G 12: 11,508,278 (GRCm39) D733E possibly damaging Het
Robo1 A T 16: 72,539,049 (GRCm39) I31F probably damaging Het
Setd2 A G 9: 110,377,328 (GRCm39) Y381C probably damaging Het
Slc47a2 A G 11: 61,233,269 (GRCm39) V87A probably benign Het
Slc5a9 T C 4: 111,755,892 (GRCm39) N2S probably benign Het
Spata13 A G 14: 60,991,319 (GRCm39) D1024G probably damaging Het
Stat1 T G 1: 52,190,408 (GRCm39) N554K probably benign Het
Suclg2 T C 6: 95,572,635 (GRCm39) D110G possibly damaging Het
Sult1c2 T A 17: 54,280,917 (GRCm39) probably null Het
Taf5l A G 8: 124,729,951 (GRCm39) I246T probably damaging Het
Tcof1 A T 18: 60,976,368 (GRCm39) D80E probably damaging Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tshz3 A G 7: 36,469,181 (GRCm39) E390G probably damaging Het
Ttn T C 2: 76,560,610 (GRCm39) T29264A possibly damaging Het
Ubr5 T C 15: 38,009,019 (GRCm39) T1065A Het
Vcp A G 4: 42,985,991 (GRCm39) V341A probably damaging Het
Vmn1r176 A T 7: 23,534,748 (GRCm39) L135* probably null Het
Vmn1r57 T A 7: 5,223,499 (GRCm39) I8N probably damaging Het
Ythdc2 C T 18: 44,967,630 (GRCm39) P209S probably damaging Het
Zfp213 A T 17: 23,777,178 (GRCm39) V288D probably benign Het
Zfp362 T C 4: 128,668,319 (GRCm39) I418V probably damaging Het
Zfp707 C A 15: 75,846,595 (GRCm39) T215K Het
Zfp957 G C 14: 79,450,402 (GRCm39) R466G probably benign 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
R6221:Cftr UTSW 6 18,282,500 (GRCm39) missense probably benign 0.00
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
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'- TCCAGTCTGTTTAGAGCTACCG -3'
(R):5'- CCCTACTTGTAGGTGTGGTAGC -3'

Sequencing Primer
(F):5'- AGAGCTACCGATATTATTGCCAG -3'
(R):5'- GTAGCTGAATGGGAATTTGTACC -3'
Posted On 2019-05-15