Incidental Mutation 'R7593:Sftpc'
ID 587574
Institutional Source Beutler Lab
Gene Symbol Sftpc
Ensembl Gene ENSMUSG00000022097
Gene Name surfactant associated protein C
Synonyms Sftp2, SP-C, SPC, Sftp-2, pro-SpC, Bricd6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R7593 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 70758389-70761521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70759623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 99 (T99A)
Ref Sequence ENSEMBL: ENSMUSP00000022692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022692] [ENSMUST00000022693] [ENSMUST00000226246] [ENSMUST00000226906]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022692
AA Change: T99A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022692
Gene: ENSMUSG00000022097
AA Change: T99A

DomainStartEndE-ValueType
SF_P 1 193 7.3e-150 SMART
BRICHOS 94 193 3.29e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022693
SMART Domains Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
ZnMc 131 273 1.32e-54 SMART
CUB 327 439 4.35e-43 SMART
CUB 440 552 7.86e-50 SMART
EGF_CA 552 593 5.03e-11 SMART
CUB 596 708 1.13e-50 SMART
EGF_CA 708 748 4.81e-8 SMART
CUB 752 864 3.99e-51 SMART
CUB 865 981 7.35e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226246
Predicted Effect probably benign
Transcript: ENSMUST00000226906
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype 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
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,774 (GRCm39) A170V probably damaging Het
Acp6 A T 3: 97,073,266 (GRCm39) E102D probably benign Het
Acss1 T A 2: 150,461,688 (GRCm39) R632* probably null Het
Adamtsl1 G T 4: 86,259,450 (GRCm39) C832F probably damaging Het
Adgrg6 T G 10: 14,344,573 (GRCm39) M127L probably damaging Het
Alkbh1 A T 12: 87,487,095 (GRCm39) Y91* probably null Het
Arhgap35 A T 7: 16,298,786 (GRCm39) I93N probably damaging Het
Asic2 A T 11: 81,858,657 (GRCm39) D118E probably benign Het
Asprv1 G T 6: 86,605,762 (GRCm39) V203L probably damaging Het
Atad2b G A 12: 5,081,726 (GRCm39) D1212N probably benign Het
Atp4a A G 7: 30,424,105 (GRCm39) I960V probably benign Het
Bin1 G T 18: 32,552,932 (GRCm39) E186* probably null Het
Bmp10 A G 6: 87,410,651 (GRCm39) Y148C probably damaging Het
Ccdc152 T A 15: 3,310,137 (GRCm39) D246V probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cdh9 A T 15: 16,823,261 (GRCm39) D81V probably damaging Het
Cep162 A T 9: 87,086,250 (GRCm39) S1025T probably benign Het
Cidea A G 18: 67,493,283 (GRCm39) I101V probably benign Het
Clock G A 5: 76,384,145 (GRCm39) S478L possibly damaging Het
Cp T A 3: 20,020,494 (GRCm39) N162K probably benign Het
Crb1 C T 1: 139,164,978 (GRCm39) E1110K probably damaging Het
Cyp2b13 A T 7: 25,780,416 (GRCm39) I146L possibly damaging Het
D630045J12Rik A G 6: 38,172,429 (GRCm39) S580P possibly damaging Het
Dars2 T C 1: 160,885,113 (GRCm39) E224G probably damaging Het
Dcbld2 A G 16: 58,244,941 (GRCm39) T72A possibly damaging Het
Ddx11 A T 17: 66,433,193 (GRCm39) I8F possibly damaging Het
Dennd2d T C 3: 106,407,244 (GRCm39) F432L probably damaging Het
Dnah10 T C 5: 124,823,608 (GRCm39) V543A probably benign Het
Eef2k G A 7: 120,488,491 (GRCm39) probably null Het
Elmo1 A G 13: 20,474,610 (GRCm39) M345V probably benign Het
Ephb4 A G 5: 137,359,560 (GRCm39) M377V probably benign Het
Erbb4 C A 1: 68,293,758 (GRCm39) R711L probably damaging Het
Fads1 A G 19: 10,162,361 (GRCm39) E95G probably damaging Het
Farsa G A 8: 85,594,278 (GRCm39) probably null Het
Galntl6 A G 8: 58,230,293 (GRCm39) S42P probably damaging Het
Gga2 G A 7: 121,589,672 (GRCm39) T559M probably benign Het
Glipr1l2 G A 10: 111,928,465 (GRCm39) G120D probably damaging Het
Gm14226 A T 2: 154,866,114 (GRCm39) I24L unknown Het
Gprc5b G T 7: 118,583,492 (GRCm39) R126S probably damaging Het
Gys1 A G 7: 45,092,360 (GRCm39) D321G probably damaging Het
Hdlbp C T 1: 93,358,005 (GRCm39) A299T probably benign Het
Hic2 A G 16: 17,076,979 (GRCm39) T603A probably damaging Het
Hoxa11 A T 6: 52,220,524 (GRCm39) I253N probably damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Inpp5d T A 1: 87,645,500 (GRCm39) S1023T possibly damaging Het
Kif21a C T 15: 90,828,064 (GRCm39) A1233T probably benign Het
Kif9 A T 9: 110,350,421 (GRCm39) T771S possibly damaging Het
Klre1 T A 6: 129,560,150 (GRCm39) C141S probably damaging Het
Lats1 A G 10: 7,577,476 (GRCm39) Y200C probably damaging Het
Lgr4 T A 2: 109,829,801 (GRCm39) L247H probably damaging Het
Lrrc37a T C 11: 103,391,778 (GRCm39) K1216E probably benign Het
Lrrc41 G A 4: 115,950,141 (GRCm39) R518H possibly damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Mcm9 C T 10: 53,506,088 (GRCm39) R62H probably benign Het
Mmp10 T G 9: 7,503,154 (GRCm39) L38R probably damaging Het
Mroh8 A G 2: 157,071,867 (GRCm39) L546P probably damaging Het
Mtcl2 A T 2: 156,882,776 (GRCm39) D425E probably benign Het
Myt1 T A 2: 181,439,532 (GRCm39) D393E possibly damaging Het
Mzb1 A T 18: 35,780,901 (GRCm39) I129N probably damaging Het
Nek10 A G 14: 14,826,955 (GRCm38) D51G probably benign Het
Nme5 A G 18: 34,700,201 (GRCm39) I148T probably benign Het
Nr2e1 G A 10: 42,439,475 (GRCm39) P348L probably damaging Het
Nrp2 A G 1: 62,758,203 (GRCm39) E63G probably damaging Het
Or2d2 A T 7: 106,727,782 (GRCm39) S273T probably damaging Het
Or51ab3 A T 7: 103,200,956 (GRCm39) probably benign Het
Or52e3 A G 7: 102,869,471 (GRCm39) E182G probably damaging Het
Or52e5 A G 7: 104,718,704 (GRCm39) H10R probably benign Het
Or56a3 A G 7: 104,735,372 (GRCm39) T150A probably benign Het
Pak5 A G 2: 135,942,884 (GRCm39) S419P probably benign Het
Pfas C A 11: 68,881,921 (GRCm39) M25I Het
Prdm9 A G 17: 15,764,867 (GRCm39) S638P possibly damaging Het
Psd G A 19: 46,301,352 (GRCm39) T954I possibly damaging Het
Psph T C 5: 129,864,337 (GRCm39) probably benign Het
Ptprf A G 4: 118,069,593 (GRCm39) I1517T probably benign Het
Rassf8 A G 6: 145,761,129 (GRCm39) R152G probably benign Het
Rfx3 G A 19: 27,827,139 (GRCm39) T149I probably benign Het
Rfx8 A T 1: 39,722,838 (GRCm39) F260I probably damaging Het
Rnft1 C T 11: 86,384,023 (GRCm39) Q308* probably null Het
Rock2 A G 12: 17,008,241 (GRCm39) N528S probably benign Het
Rpp25l T C 4: 41,712,305 (GRCm39) R157G unknown Het
Ryr1 A T 7: 28,735,528 (GRCm39) N4083K probably damaging Het
Scd1 G T 19: 44,388,739 (GRCm39) T237N probably benign Het
Sema3d T C 5: 12,558,112 (GRCm39) F215L probably benign Het
Sema7a C T 9: 57,867,858 (GRCm39) T478I probably benign Het
Slc25a4 G A 8: 46,662,241 (GRCm39) T139I probably damaging Het
Snx27 T C 3: 94,410,272 (GRCm39) E468G possibly damaging Het
Snx33 T C 9: 56,834,058 (GRCm39) K4E possibly damaging Het
Soat1 A T 1: 156,268,148 (GRCm39) L253* probably null Het
Sycp2l A T 13: 41,326,192 (GRCm39) N749I probably damaging Het
Synj2bp A T 12: 81,557,664 (GRCm39) I47N probably damaging Het
Tmem82 T A 4: 141,343,605 (GRCm39) I222F probably damaging Het
Ube2o A T 11: 116,471,905 (GRCm39) L112Q possibly damaging Het
Vmn1r204 G A 13: 22,740,754 (GRCm39) W128* probably null Het
Vmn2r114 A T 17: 23,510,817 (GRCm39) Y554* probably null Het
Vmn2r62 A T 7: 42,437,213 (GRCm39) Y424N possibly damaging Het
Vmn2r70 A T 7: 85,215,312 (GRCm39) L74* probably null Het
Vmp1 T A 11: 86,477,377 (GRCm39) Y341F probably benign Het
Vps13a A T 19: 16,703,027 (GRCm39) V642D probably damaging Het
Vps33a T C 5: 123,674,619 (GRCm39) M383V probably benign Het
Vwf G A 6: 125,624,731 (GRCm39) V1827I Het
Zc3hav1 A G 6: 38,306,121 (GRCm39) Y644H probably benign Het
Zfp429 A C 13: 67,538,410 (GRCm39) C345G probably damaging Het
Zfp595 T C 13: 67,464,823 (GRCm39) H483R probably benign Het
Zfp748 G T 13: 67,690,638 (GRCm39) H207Q probably benign Het
Zfp758 T C 17: 22,593,939 (GRCm39) S142P probably damaging Het
Znfx1 A C 2: 166,898,145 (GRCm39) S260A probably benign Het
Other mutations in Sftpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02203:Sftpc APN 14 70,759,309 (GRCm39) missense probably damaging 0.99
R0158:Sftpc UTSW 14 70,758,887 (GRCm39) missense probably null 0.15
R0305:Sftpc UTSW 14 70,761,518 (GRCm39) unclassified probably benign
R0448:Sftpc UTSW 14 70,760,120 (GRCm39) missense probably benign 0.13
R0463:Sftpc UTSW 14 70,760,110 (GRCm39) missense probably damaging 1.00
R3028:Sftpc UTSW 14 70,758,865 (GRCm39) missense probably benign 0.40
R4623:Sftpc UTSW 14 70,759,718 (GRCm39) critical splice acceptor site probably null
R7988:Sftpc UTSW 14 70,760,059 (GRCm39) missense probably damaging 1.00
R9153:Sftpc UTSW 14 70,759,650 (GRCm39) missense probably benign 0.03
R9699:Sftpc UTSW 14 70,760,143 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCCAACCAACTTCCTTTAG -3'
(R):5'- CCATCGATTGCTCTGACACC -3'

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