Incidental Mutation 'R9249:Pcbp3'
ID 701443
Institutional Source Beutler Lab
Gene Symbol Pcbp3
Ensembl Gene ENSMUSG00000001120
Gene Name poly(rC) binding protein 3
Synonyms AlphaCP-3
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R9249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 76597691-76797721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76635377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 59 (S59G)
Ref Sequence ENSEMBL: ENSMUSP00000001148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001148] [ENSMUST00000092393] [ENSMUST00000105411] [ENSMUST00000168465]
AlphaFold P57722
Predicted Effect probably benign
Transcript: ENSMUST00000001148
AA Change: S59G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000001148
Gene: ENSMUSG00000001120
AA Change: S59G

DomainStartEndE-ValueType
KH 44 112 4.66e-17 SMART
KH 128 199 2.08e-14 SMART
KH 292 362 1.77e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092393
AA Change: S27G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090048
Gene: ENSMUSG00000001120
AA Change: S27G

DomainStartEndE-ValueType
KH 12 80 4.66e-17 SMART
KH 96 167 2.08e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105411
AA Change: S59G

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101051
Gene: ENSMUSG00000001120
AA Change: S59G

DomainStartEndE-ValueType
KH 44 112 4.66e-17 SMART
KH 128 199 2.08e-14 SMART
KH 291 361 1.77e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168465
AA Change: S59G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129465
Gene: ENSMUSG00000001120
AA Change: S59G

DomainStartEndE-ValueType
KH 44 112 4.66e-17 SMART
KH 128 199 2.08e-14 SMART
KH 292 362 1.77e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,220,165 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,733,690 (GRCm39) F1650S probably damaging Het
Bscl2 A T 19: 8,820,378 (GRCm39) D133V probably damaging Het
Cacna1c T C 6: 118,590,288 (GRCm39) Y1564C Het
Ccdc182 T C 11: 88,185,178 (GRCm39) V86A probably benign Het
Cd44 T G 2: 102,661,747 (GRCm39) T616P possibly damaging Het
Cep152 C T 2: 125,405,904 (GRCm39) E1543K probably benign Het
Chpf2 C A 5: 24,794,235 (GRCm39) T135K probably damaging Het
Cntn4 C T 6: 106,466,722 (GRCm39) P208L possibly damaging Het
Col6a3 T A 1: 90,707,020 (GRCm39) Y2638F unknown Het
Csmd2 C A 4: 128,313,323 (GRCm39) Y1333* probably null Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dbndd2 T C 2: 164,328,077 (GRCm39) probably benign Het
Ecpas T C 4: 58,869,427 (GRCm39) K280R probably damaging Het
Egfl8 C A 17: 34,833,491 (GRCm39) A133S probably benign Het
Fasn T C 11: 120,703,915 (GRCm39) H1475R probably benign Het
Gdpd5 T C 7: 99,107,989 (GRCm39) L522P probably damaging Het
Gzmd T G 14: 56,368,790 (GRCm39) M35L probably damaging Het
Herc2 T A 7: 55,762,890 (GRCm39) L873Q probably damaging Het
Hsd3b6 T C 3: 98,713,679 (GRCm39) K207E probably benign Het
Ikbkb T A 8: 23,171,735 (GRCm39) K171* probably null Het
Il21 T A 3: 37,279,677 (GRCm39) probably null Het
Itga1 T C 13: 115,185,834 (GRCm39) N56S probably damaging Het
Map1lc3b T C 8: 122,322,833 (GRCm39) probably null Het
Mapk13 A G 17: 28,988,490 (GRCm39) Y36C probably damaging Het
Myh3 C T 11: 66,975,855 (GRCm39) P296S probably benign Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Myot T C 18: 44,479,265 (GRCm39) V334A probably benign Het
Ncor2 T C 5: 125,186,988 (GRCm39) E12G unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nphs2 G A 1: 156,144,416 (GRCm39) R140Q probably damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nvl A G 1: 180,962,593 (GRCm39) Y126H probably damaging Het
Or1j14 T C 2: 36,417,559 (GRCm39) I45T probably damaging Het
Or5w1 A T 2: 87,486,660 (GRCm39) F202I probably benign Het
Or8g29-ps1 T A 9: 39,200,602 (GRCm39) N195Y unknown Het
Or8g36 A T 9: 39,422,149 (GRCm39) I289N probably damaging Het
Osbpl8 T A 10: 111,122,012 (GRCm39) D651E probably benign Het
Papola T A 12: 105,799,403 (GRCm39) H677Q probably benign Het
Pkd1l2 T A 8: 117,746,159 (GRCm39) I1944F probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Polb A T 8: 23,143,084 (GRCm39) N37K probably benign Het
Ppfia2 T C 10: 106,749,429 (GRCm39) V1105A probably damaging Het
Ric3 C T 7: 108,647,212 (GRCm39) D204N probably damaging Het
Scn8a A G 15: 100,914,456 (GRCm39) D1154G probably benign Het
Sdk1 C A 5: 142,129,550 (GRCm39) N1590K probably damaging Het
Sec31a C A 5: 100,533,083 (GRCm39) R163L probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3i C T 12: 104,231,728 (GRCm39) Q122* probably null Het
Sgo2b A C 8: 64,391,407 (GRCm39) Y153* probably null Het
Sgsm1 T A 5: 113,428,201 (GRCm39) H329L possibly damaging Het
Sh3tc2 A C 18: 62,107,598 (GRCm39) N203T possibly damaging Het
Skint8 C A 4: 111,794,159 (GRCm39) T183K probably damaging Het
Slc6a20a T C 9: 123,507,941 (GRCm39) probably benign Het
Slc8a2 T C 7: 15,891,156 (GRCm39) F732S probably damaging Het
Spata16 T C 3: 26,787,030 (GRCm39) V236A possibly damaging Het
Stard5 A G 7: 83,281,253 (GRCm39) D2G probably damaging Het
Stk25 T C 1: 93,552,806 (GRCm39) S328G probably benign Het
Tmem39b A T 4: 129,572,468 (GRCm39) M378K probably damaging Het
Tspan10 T C 11: 120,337,051 (GRCm39) F274L probably benign Het
Tssk1 A T 16: 17,712,724 (GRCm39) I170L probably benign Het
Vmn1r6 A G 6: 56,979,760 (GRCm39) R141G probably benign Het
Wdfy3 A G 5: 101,996,359 (GRCm39) S3168P possibly damaging Het
Zfp458 T A 13: 67,405,218 (GRCm39) H407L probably damaging Het
Other mutations in Pcbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Pcbp3 APN 10 76,603,691 (GRCm39) splice site probably benign
R1294:Pcbp3 UTSW 10 76,599,155 (GRCm39) missense probably damaging 1.00
R2101:Pcbp3 UTSW 10 76,625,589 (GRCm39) missense possibly damaging 0.71
R4324:Pcbp3 UTSW 10 76,599,177 (GRCm39) nonsense probably null
R4675:Pcbp3 UTSW 10 76,606,869 (GRCm39) missense possibly damaging 0.94
R6129:Pcbp3 UTSW 10 76,599,182 (GRCm39) missense probably damaging 0.98
R8817:Pcbp3 UTSW 10 76,625,670 (GRCm39) missense probably benign 0.00
R9196:Pcbp3 UTSW 10 76,621,003 (GRCm39) missense probably damaging 0.96
R9536:Pcbp3 UTSW 10 76,599,225 (GRCm39) missense possibly damaging 0.81
Z1088:Pcbp3 UTSW 10 76,599,157 (GRCm39) missense probably benign 0.25
Z1177:Pcbp3 UTSW 10 76,598,348 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGCAAGACTCACAGTACAGTAG -3'
(R):5'- CACATGTTCTGGCTGAGAGC -3'

Sequencing Primer
(F):5'- CTCACAGTACAGTAGGTTCAGG -3'
(R):5'- GCCTCAGCTCTCCCTGG -3'
Posted On 2022-03-25