Incidental Mutation 'R0448:Sftpc'
ID 39470
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
MMRRC Submission 038648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R0448 (G1)
Quality Score 209
Status Validated
Chromosome 14
Chromosomal Location 70758389-70761521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70760120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 46 (V46I)
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 probably benign
Transcript: ENSMUST00000022692
AA Change: V46I

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022692
Gene: ENSMUSG00000022097
AA Change: V46I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227152
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,218,687 (GRCm39) R232C probably damaging Het
Adam9 A G 8: 25,454,926 (GRCm39) S732P probably damaging Het
Add2 G A 6: 86,069,901 (GRCm39) V140I probably benign Het
Ahi1 G A 10: 20,847,974 (GRCm39) G461S probably damaging Het
Aoc1l2 A T 6: 48,909,991 (GRCm39) S643C probably damaging Het
Arhgef7 A G 8: 11,869,659 (GRCm39) T432A possibly damaging Het
Arsi T C 18: 61,050,374 (GRCm39) I419T probably damaging Het
Brca1 G A 11: 101,399,047 (GRCm39) P1515L possibly damaging Het
Brcc3 T A X: 74,493,647 (GRCm39) L222* probably null Het
Brpf3 A T 17: 29,025,010 (GRCm39) T28S probably benign Het
Cdc20b T A 13: 113,215,191 (GRCm39) V253E probably damaging Het
Cnot6l T A 5: 96,227,905 (GRCm39) S443C probably benign Het
Copg1 G A 6: 87,881,908 (GRCm39) A587T probably benign Het
Crebrf A G 17: 26,962,076 (GRCm39) D391G probably benign Het
Crocc A T 4: 140,769,502 (GRCm39) D283E probably damaging Het
Cryga T C 1: 65,142,318 (GRCm39) N25S probably benign Het
Csnk1g1 T C 9: 65,888,230 (GRCm39) F90L possibly damaging Het
Cyp2j6 A G 4: 96,433,965 (GRCm39) V115A probably benign Het
Cyp3a11 T C 5: 145,799,204 (GRCm39) I328V probably benign Het
Dchs1 C A 7: 105,415,134 (GRCm39) E683D probably benign Het
Dnah9 T C 11: 65,809,539 (GRCm39) probably benign Het
Dqx1 T C 6: 83,037,326 (GRCm39) S330P probably damaging Het
Epg5 A G 18: 78,066,580 (GRCm39) Y2160C probably damaging Het
Ercc5 T C 1: 44,213,100 (GRCm39) L742P probably damaging Het
Fcgbpl1 T C 7: 27,839,660 (GRCm39) I491T probably benign Het
Flt1 C T 5: 147,503,204 (GRCm39) probably benign Het
Grip2 A G 6: 91,756,194 (GRCm39) S498P probably damaging Het
H2-T22 A G 17: 36,353,278 (GRCm39) L14P possibly damaging Het
Hephl1 C T 9: 14,988,222 (GRCm39) G629S probably damaging Het
Hsdl2 T A 4: 59,606,523 (GRCm39) M162K unknown Het
Kcnh8 C A 17: 53,284,648 (GRCm39) probably null Het
Krt76 T C 15: 101,799,082 (GRCm39) Q201R probably damaging Het
Lrpprc A T 17: 85,078,322 (GRCm39) Y319N probably benign Het
Lrrk2 T G 15: 91,593,508 (GRCm39) I489R probably damaging Het
Mboat1 G T 13: 30,386,393 (GRCm39) D136Y probably damaging Het
Mcmdc2 T C 1: 10,010,767 (GRCm39) *682Q probably null Het
Msx2 C A 13: 53,622,431 (GRCm39) R193L probably damaging Het
Nfatc4 T G 14: 56,069,111 (GRCm39) D625E possibly damaging Het
Nup153 T C 13: 46,870,657 (GRCm39) E86G probably benign Het
Or2g7 G T 17: 38,378,563 (GRCm39) R167L probably benign Het
Or4k45 T A 2: 111,395,559 (GRCm39) I77F probably benign Het
Pard3b T C 1: 62,205,628 (GRCm39) L474P probably damaging Het
Pate11 T A 9: 36,388,412 (GRCm39) M79K probably benign Het
Pggt1b A T 18: 46,396,039 (GRCm39) probably benign Het
Pik3r2 A G 8: 71,224,688 (GRCm39) probably benign Het
Prr14 A G 7: 127,073,898 (GRCm39) probably benign Het
Rcbtb2 T C 14: 73,415,869 (GRCm39) probably benign Het
Rufy2 G A 10: 62,840,515 (GRCm39) D429N probably benign Het
S1pr5 T A 9: 21,155,503 (GRCm39) T308S probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina12 A G 12: 104,004,354 (GRCm39) S93P probably benign Het
Serpinb1b T G 13: 33,273,675 (GRCm39) H123Q probably benign Het
Skint8 T A 4: 111,794,087 (GRCm39) V159D probably damaging Het
Slc25a11 T C 11: 70,536,405 (GRCm39) N134S probably benign Het
Slc25a24 T C 3: 109,064,332 (GRCm39) probably benign Het
Sorl1 C G 9: 41,915,384 (GRCm39) V1282L probably damaging Het
Sptan1 T A 2: 29,916,822 (GRCm39) I2170N probably damaging Het
Syne4 A G 7: 30,014,345 (GRCm39) probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tg C A 15: 66,636,291 (GRCm39) P626Q probably damaging Het
Thoc6 T A 17: 23,888,550 (GRCm39) D196V probably damaging Het
Tpi1 A G 6: 124,791,066 (GRCm39) F57S probably damaging Het
Tril A G 6: 53,794,793 (GRCm39) *810Q probably null Het
Trrap T A 5: 144,776,377 (GRCm39) V2972D possibly damaging Het
Ttn A T 2: 76,591,624 (GRCm39) V12688E probably damaging Het
Ttn T C 2: 76,551,283 (GRCm39) M31370V probably damaging Het
Txndc11 A G 16: 10,909,625 (GRCm39) F307S probably damaging Het
Vmn1r40 C T 6: 89,691,642 (GRCm39) S153L probably benign Het
Vmn2r95 A G 17: 18,672,005 (GRCm39) T581A possibly damaging Het
Wdtc1 A G 4: 133,024,811 (GRCm39) F462S probably damaging Het
Zfp101 A G 17: 33,601,295 (GRCm39) S154P possibly damaging Het
Zmym6 A G 4: 127,002,487 (GRCm39) N481D 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
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
R7593:Sftpc UTSW 14 70,759,623 (GRCm39) missense possibly damaging 0.87
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'- GTGTCACCCAAGATGTGCTCATACC -3'
(R):5'- TTCCTTGCACACTCGTAGCCTAAAG -3'

Sequencing Primer
(F):5'- AAGATGTGCTCATACCTGTCCAC -3'
(R):5'- CGTAGCCTAAAGAGGTACGG -3'
Posted On 2013-05-23