Incidental Mutation 'R7411:Pitpnc1'
ID 575100
Institutional Source Beutler Lab
Gene Symbol Pitpnc1
Ensembl Gene ENSMUSG00000040430
Gene Name phosphatidylinositol transfer protein, cytoplasmic 1
Synonyms RDGB-BETA, 1110020B03Rik, 5830436L09Rik, RDGBB1, C330017I21Rik
MMRRC Submission 045492-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 107098718-107361525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107103398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 234 (S234P)
Ref Sequence ENSEMBL: ENSMUSP00000046337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040380] [ENSMUST00000103064]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040380
AA Change: S234P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046337
Gene: ENSMUSG00000040430
AA Change: S234P

DomainStartEndE-ValueType
Pfam:IP_trans 1 220 6.1e-98 PFAM
low complexity region 230 258 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103064
SMART Domains Protein: ENSMUSP00000099353
Gene: ENSMUSG00000040430

DomainStartEndE-ValueType
Pfam:IP_trans 1 245 9.4e-88 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,241 (GRCm39) T276I possibly damaging Het
Abca17 A G 17: 24,547,543 (GRCm39) I277T possibly damaging Het
Abcb11 C T 2: 69,134,280 (GRCm39) probably null Het
Abcc12 C A 8: 87,287,479 (GRCm39) R122L possibly damaging Het
Abcc8 A G 7: 45,815,341 (GRCm39) probably null Het
Adam28 C T 14: 68,864,396 (GRCm39) R469K probably damaging Het
Adamts18 T C 8: 114,504,362 (GRCm39) Y243C probably damaging Het
Agbl3 T C 6: 34,791,754 (GRCm39) S619P probably damaging Het
Alpk3 A T 7: 80,742,600 (GRCm39) T806S probably benign Het
Armh3 A C 19: 45,953,874 (GRCm39) V170G probably benign Het
Atoh1 T A 6: 64,706,914 (GRCm39) I203N probably damaging Het
Cables1 A G 18: 11,973,572 (GRCm39) E237G probably benign Het
Cacna1d A G 14: 30,074,947 (GRCm39) M1T probably null Het
Ccdc91 C T 6: 147,493,696 (GRCm39) Q363* probably null Het
Cdhr17 A T 5: 17,029,763 (GRCm39) T500S possibly damaging Het
Ceacam5 T A 7: 17,484,678 (GRCm39) D473E probably damaging Het
Cfap54 T A 10: 92,704,617 (GRCm39) D2821V unknown Het
Clca3a2 A G 3: 144,507,860 (GRCm39) S737P probably damaging Het
Clec4n T A 6: 123,209,145 (GRCm39) M70K probably benign Het
Dnai3 A G 3: 145,802,900 (GRCm39) V97A probably damaging Het
Dstyk G A 1: 132,345,404 (GRCm39) G21S probably benign Het
Efcab3 T G 11: 104,890,549 (GRCm39) N4210K probably benign Het
Enpp5 A G 17: 44,392,366 (GRCm39) D265G probably damaging Het
Gabrb1 T C 5: 72,279,538 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Guk1 A G 11: 59,076,811 (GRCm39) F91L Het
Ints1 C T 5: 139,750,015 (GRCm39) E961K possibly damaging Het
Irx2 T A 13: 72,777,182 (GRCm39) M1K probably null Het
Jrk C T 15: 74,579,048 (GRCm39) R79H possibly damaging Het
Kcnu1 G T 8: 26,382,116 (GRCm39) V489L probably damaging Het
Kctd7 C T 5: 130,181,265 (GRCm39) T209M probably benign Het
Kdm5a T A 6: 120,403,776 (GRCm39) V1127E probably damaging Het
Klk6 A G 7: 43,476,367 (GRCm39) H69R probably damaging Het
Lck T C 4: 129,445,763 (GRCm39) K340R probably benign Het
Lrrc75a A G 11: 62,496,734 (GRCm39) L276P probably damaging Het
Med25 A G 7: 44,527,667 (GRCm39) W730R probably damaging Het
Muc4 T C 16: 32,570,140 (GRCm39) V400A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myt1 C A 2: 181,456,899 (GRCm39) H906Q probably damaging Het
Ncl A T 1: 86,278,564 (GRCm39) F673I probably damaging Het
Nfe2l1 G T 11: 96,713,009 (GRCm39) T216N probably benign Het
Nos2 G A 11: 78,835,681 (GRCm39) probably null Het
Nphp4 T A 4: 152,639,174 (GRCm39) I935N probably benign Het
Ntn1 G A 11: 68,276,915 (GRCm39) A11V probably benign Het
Or2t26 A T 11: 49,039,821 (GRCm39) M246L probably benign Het
Or4c10b T C 2: 89,711,605 (GRCm39) V145A probably damaging Het
Pate11 T C 9: 36,386,980 (GRCm39) V16A possibly damaging Het
Pcdha12 A G 18: 37,154,661 (GRCm39) Y460C probably damaging Het
Pcdha4 G T 18: 37,086,111 (GRCm39) R98L probably benign Het
Pmfbp1 A T 8: 110,240,503 (GRCm39) Y195F probably damaging Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Ptpn18 G A 1: 34,511,273 (GRCm39) probably null Het
Rhbdl2 G A 4: 123,723,435 (GRCm39) A280T possibly damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Sema3a T G 5: 13,566,230 (GRCm39) Y171* probably null Het
Set A G 2: 29,956,897 (GRCm39) E22G probably benign Het
Sirpb1b A T 3: 15,608,057 (GRCm39) D229E probably benign Het
Slc12a2 A T 18: 58,074,085 (GRCm39) I1096F probably benign Het
Slc30a5 T C 13: 100,954,688 (GRCm39) I159V probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc6a20b A G 9: 123,434,013 (GRCm39) I275T probably benign Het
Speer1e T A 5: 11,233,116 (GRCm39) probably null Het
Stradb A C 1: 59,027,677 (GRCm39) D69A possibly damaging Het
Supt16 A T 14: 52,415,508 (GRCm39) V409E probably damaging Het
Tcea2 A G 2: 181,328,457 (GRCm39) N195S probably damaging Het
Thumpd3 T C 6: 113,033,072 (GRCm39) V270A possibly damaging Het
Urgcp T A 11: 5,668,116 (GRCm39) H117L probably benign Het
Vps13c T A 9: 67,879,283 (GRCm39) M3408K probably damaging Het
Wdfy4 A C 14: 32,828,088 (GRCm39) M1078R Het
Ypel5 G A 17: 73,153,439 (GRCm39) probably null Het
Other mutations in Pitpnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pitpnc1 APN 11 107,103,469 (GRCm39) missense possibly damaging 0.89
IGL02565:Pitpnc1 APN 11 107,187,059 (GRCm39) missense probably damaging 1.00
IGL03123:Pitpnc1 APN 11 107,228,237 (GRCm39) critical splice donor site probably null
R1674:Pitpnc1 UTSW 11 107,117,071 (GRCm39) missense possibly damaging 0.81
R2147:Pitpnc1 UTSW 11 107,103,344 (GRCm39) missense probably damaging 0.98
R3082:Pitpnc1 UTSW 11 107,103,350 (GRCm39) missense possibly damaging 0.95
R3857:Pitpnc1 UTSW 11 107,211,631 (GRCm39) splice site probably null
R4449:Pitpnc1 UTSW 11 107,107,535 (GRCm39) missense probably benign 0.01
R5044:Pitpnc1 UTSW 11 107,187,054 (GRCm39) missense possibly damaging 0.90
R5076:Pitpnc1 UTSW 11 107,187,093 (GRCm39) missense probably damaging 1.00
R5729:Pitpnc1 UTSW 11 107,228,264 (GRCm39) missense probably benign 0.00
R6267:Pitpnc1 UTSW 11 107,117,092 (GRCm39) missense probably damaging 1.00
R6296:Pitpnc1 UTSW 11 107,117,092 (GRCm39) missense probably damaging 1.00
R6597:Pitpnc1 UTSW 11 107,117,058 (GRCm39) nonsense probably null
R8804:Pitpnc1 UTSW 11 107,103,431 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTACTCTGATTTGGGCCGAC -3'
(R):5'- GGTAGTGTCCCCAGATTTAGC -3'

Sequencing Primer
(F):5'- CCGACATGGCTTTTCGGAAG -3'
(R):5'- GATTTAGCAATAAACCCATTTGCCCG -3'
Posted On 2019-10-07