Incidental Mutation 'R9115:Cftr'
ID 692467
Institutional Source Beutler Lab
Gene Symbol Cftr
Ensembl Gene ENSMUSG00000041301
Gene Name cystic fibrosis transmembrane conductance regulator
Synonyms Abcc7
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R9115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 18170686-18322767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18235310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 516 (R516S)
Ref Sequence ENSEMBL: ENSMUSP00000049228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045706] [ENSMUST00000115405] [ENSMUST00000115406] [ENSMUST00000129452] [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: R516S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: R516S

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 damaging
Transcript: ENSMUST00000115405
AA Change: R516S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111064
Gene: ENSMUSG00000041301
AA Change: R516S

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: R486S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: R486S

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 damaging
Transcript: ENSMUST00000129452
AA Change: R516S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115334
Gene: ENSMUSG00000041301
AA Change: R516S

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 3.9e-39 PFAM
Pfam:ABC_tran 441 528 5.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140407
AA Change: R516S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116957
Gene: ENSMUSG00000041301
AA Change: R516S

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aire T C 10: 77,879,309 (GRCm39) T17A Het
Ankrd31 T C 13: 96,940,773 (GRCm39) probably null Het
Brwd1 C T 16: 95,848,314 (GRCm39) R569K probably damaging Het
Capns1 A T 7: 29,889,978 (GRCm39) I177K probably benign Het
Ccdc182 A G 11: 88,185,343 (GRCm39) N141S probably benign Het
Celsr1 A G 15: 85,803,217 (GRCm39) W2441R probably damaging Het
Ckap4 C T 10: 84,363,507 (GRCm39) V519M probably damaging Het
Col27a1 C T 4: 63,231,974 (GRCm39) P1277L unknown Het
Cspg4 T C 9: 56,797,736 (GRCm39) L1400P probably damaging Het
Cyp4f39 T A 17: 32,711,296 (GRCm39) F481Y probably damaging Het
Dmxl2 T C 9: 54,309,011 (GRCm39) I1913M probably benign Het
Dock10 T C 1: 80,490,156 (GRCm39) T1989A probably damaging Het
Eef2 CC CCC 10: 81,014,603 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,853,754 (GRCm39) V1573I possibly damaging Het
Fshr T A 17: 89,292,948 (GRCm39) I577F probably damaging Het
Gfm2 T C 13: 97,301,707 (GRCm39) probably null Het
Gm12695 T C 4: 96,657,846 (GRCm39) N108D possibly damaging Het
Gm3285 T A 10: 77,698,007 (GRCm39) L52H unknown Het
Gm5930 A T 14: 44,575,006 (GRCm39) L95* probably null Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Klhl26 A G 8: 70,904,896 (GRCm39) M338T possibly damaging Het
Lrrc4c T C 2: 97,459,686 (GRCm39) I104T probably benign Het
Mapk10 A T 5: 103,186,532 (GRCm39) V60E Het
Mfsd4b3-ps T A 10: 39,824,012 (GRCm39) K83* probably null Het
Muc15 C T 2: 110,562,089 (GRCm39) T175I probably damaging Het
Nmu G A 5: 76,511,572 (GRCm39) probably benign Het
Nol4l G T 2: 153,253,638 (GRCm39) T645K probably damaging Het
Nr2f1 A G 13: 78,337,869 (GRCm39) S416P probably benign Het
Ntn4 A C 10: 93,569,675 (GRCm39) I463L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or12k7 T C 2: 36,959,052 (GRCm39) L245P probably damaging Het
Or52h2 C A 7: 103,838,931 (GRCm39) C161F possibly damaging Het
Or8h8 T A 2: 86,752,998 (GRCm39) R293W probably damaging Het
Pccb T A 9: 100,869,908 (GRCm39) N341I probably damaging Het
Pgm3 G A 9: 86,447,662 (GRCm39) L194F probably damaging Het
Prkra T A 2: 76,478,193 (GRCm39) H3L probably benign Het
Rbm12 TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,030 (GRCm39) probably benign Het
Ryr1 T A 7: 28,803,989 (GRCm39) K600* probably null Het
Sema4d A T 13: 51,877,596 (GRCm39) S79T probably benign Het
Slc37a1 T C 17: 31,534,486 (GRCm39) C53R probably damaging Het
Sptbn1 A G 11: 30,087,526 (GRCm39) I971T probably damaging Het
Tcstv1a T A 13: 120,355,453 (GRCm39) I60F possibly damaging Het
Tdrkh G T 3: 94,335,598 (GRCm39) C397F possibly damaging Het
Tecrl A T 5: 83,427,906 (GRCm39) M314K possibly damaging Het
Ttn T C 2: 76,780,496 (GRCm39) K1131R unknown Het
Uimc1 A T 13: 55,198,584 (GRCm39) Y531N possibly damaging Het
Usp5 A G 6: 124,803,384 (GRCm39) S39P probably damaging Het
Virma A G 4: 11,498,744 (GRCm39) T62A probably benign Het
Vmn2r85 A G 10: 130,254,153 (GRCm39) Y844H probably benign Het
Yars1 T C 4: 129,109,143 (GRCm39) V458A probably benign Het
Zfp235 G A 7: 23,841,453 (GRCm39) C624Y probably damaging Het
Zfp712 A T 13: 67,189,241 (GRCm39) S429T probably damaging Het
Zmynd11 A T 13: 9,743,495 (GRCm39) D307E 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
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
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
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'- CTTGTGATTGGAATAATTGGACGC -3'
(R):5'- CTGAAGACTGAATGAGCATAATCC -3'

Sequencing Primer
(F):5'- TTGGAATAATTGGACGCAAGAAAG -3'
(R):5'- ACCTACAATGGGCTCATGTG -3'
Posted On 2021-12-30