|Institutional Source||Beutler Lab|
|Gene Name||surfactant associated protein C|
|Synonyms||Sftp-2, SPC, SP-C, Sftp2, pro-SpC, Bricd6|
|Essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R7988 (G1)|
|Chromosomal Location||70520949-70524081 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70522619 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 66 (E66G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022692 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022692] [ENSMUST00000022693] [ENSMUST00000226246] [ENSMUST00000226906]|
|AlphaFold||no structure available at present|
AA Change: E66G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E66G
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display respiratory abnormalities similar to emphysema. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sftpc||
(F):5'- TGGTTATCACACTAGGCCGG -3'
(R):5'- CTCGTAGCCTAAAGAGGTACGG -3'
(F):5'- CACCCAAGATGTGCTCAT -3'
(R):5'- AGAGTAGGAGCCACCCTCTC -3'