Incidental Mutation 'R4683:Pcyt1b'
ID 350148
Institutional Source Beutler Lab
Gene Symbol Pcyt1b
Ensembl Gene ENSMUSG00000035246
Gene Name phosphate cytidylyltransferase 1, choline, beta isoform
Synonyms CTTbeta
MMRRC Submission 041935-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # R4683 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 92698469-92793557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 92789970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 318 (P318H)
Ref Sequence ENSEMBL: ENSMUSP00000109566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045898] [ENSMUST00000113933]
AlphaFold Q811Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000045898
AA Change: P348H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044280
Gene: ENSMUSG00000035246
AA Change: P348H

DomainStartEndE-ValueType
Pfam:CTP_transf_like 80 208 2e-33 PFAM
low complexity region 319 339 N/A INTRINSIC
low complexity region 346 362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113933
AA Change: P318H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109566
Gene: ENSMUSG00000035246
AA Change: P318H

DomainStartEndE-ValueType
Pfam:CTP_transf_2 50 178 1.1e-24 PFAM
low complexity region 289 309 N/A INTRINSIC
low complexity region 316 332 N/A INTRINSIC
Meta Mutation Damage Score 0.0989 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice reduced fertility, abnormal ovaries with absent corpora lutea and follicles, benign ovarian tumors, seminiferous tubule degeneration, and reduced spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,709 (GRCm39) V56A probably damaging Het
Acyp1 A G 12: 85,325,717 (GRCm39) probably benign Het
Adgrb1 A T 15: 74,459,963 (GRCm39) K532I probably damaging Het
Ahrr T A 13: 74,372,885 (GRCm39) silent Het
Asz1 T C 6: 18,055,541 (GRCm39) probably benign Het
AW554918 T C 18: 25,472,852 (GRCm39) Y219H probably benign Het
Ccno C A 13: 113,125,543 (GRCm39) probably null Het
Cdh17 A T 4: 11,817,036 (GRCm39) N816Y possibly damaging Het
Clca4a C T 3: 144,660,701 (GRCm39) V708I probably damaging Het
Col6a3 T A 1: 90,701,179 (GRCm39) Y2579F unknown Het
Col6a4 A G 9: 105,957,329 (GRCm39) V165A probably benign Het
Csf1r T A 18: 61,257,983 (GRCm39) C651S probably damaging Het
Cyp4f14 T C 17: 33,126,985 (GRCm39) D315G probably null Het
Def6 A G 17: 28,436,609 (GRCm39) D91G probably damaging Het
Dmxl1 T G 18: 50,011,088 (GRCm39) S1082A probably damaging Het
Dnah2 A T 11: 69,349,768 (GRCm39) Y2392N probably damaging Het
Dsg4 T C 18: 20,594,466 (GRCm39) S532P probably benign Het
Efr3a C A 15: 65,691,650 (GRCm39) S126R probably damaging Het
Gab1 A C 8: 81,515,261 (GRCm39) H352Q probably benign Het
Gm1110 A G 9: 26,831,890 (GRCm39) M87T probably damaging Het
Greb1 C T 12: 16,761,774 (GRCm39) M535I possibly damaging Het
Greb1l T A 18: 10,529,563 (GRCm39) probably null Het
Gucy2d T C 7: 98,102,650 (GRCm39) C487R probably benign Het
H1f7 A T 15: 98,154,921 (GRCm39) I76N probably damaging Het
Lrrc2 A T 9: 110,791,614 (GRCm39) H122L possibly damaging Het
Mrps22 A T 9: 98,480,359 (GRCm39) probably null Het
Mxd3 T C 13: 55,473,613 (GRCm39) T202A probably benign Het
Neb T C 2: 52,134,074 (GRCm39) H3303R possibly damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or13a19 T C 7: 139,902,681 (GRCm39) L23P probably benign Het
Or14j6 A G 17: 38,215,039 (GRCm39) T201A probably benign Het
Pard3b T C 1: 62,255,675 (GRCm39) Y629H probably benign Het
Pcnx1 A G 12: 82,033,446 (GRCm39) D1781G probably benign Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Pcsk9 A T 4: 106,316,092 (GRCm39) I117N possibly damaging Het
Pfkfb2 T A 1: 130,634,221 (GRCm39) probably null Het
Pi4ka T C 16: 17,114,901 (GRCm39) E1456G possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Sh2b2 C T 5: 136,260,574 (GRCm39) C214Y probably damaging Het
Slc52a2 C A 15: 76,424,433 (GRCm39) P224T probably damaging Het
Slf2 C G 19: 44,923,920 (GRCm39) R245G probably benign Het
Sox5 T C 6: 143,779,193 (GRCm39) S648G probably damaging Het
Stk36 T A 1: 74,673,344 (GRCm39) I1079N probably benign Het
Stxbp3 T C 3: 108,708,188 (GRCm39) D371G probably damaging Het
Trnau1ap A T 4: 132,049,063 (GRCm39) Y47N probably damaging Het
Ubr5 C T 15: 38,038,211 (GRCm39) R316H probably damaging Het
Vmn1r230 C T 17: 21,067,515 (GRCm39) R235C probably benign Het
Wnt10a C T 1: 74,842,296 (GRCm39) H93Y unknown Het
Zfp1005 T A 2: 150,108,390 (GRCm39) H50Q possibly damaging Het
Zfp52 A G 17: 21,781,769 (GRCm39) D539G probably benign Het
Other mutations in Pcyt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Pcyt1b APN X 92,778,515 (GRCm39) missense probably benign 0.09
IGL02043:Pcyt1b APN X 92,745,722 (GRCm39) missense possibly damaging 0.73
R4682:Pcyt1b UTSW X 92,789,970 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTAAGCCGTACCCAGAATTGC -3'
(R):5'- AAAGAGCTGGCCCTAGTAACTC -3'

Sequencing Primer
(F):5'- CCGTACCCAGAATTGCTGTGTTAAG -3'
(R):5'- TGGCCCTAGTAACTCCCATGG -3'
Posted On 2015-10-08