Incidental Mutation 'R7243:Pcca'
ID 563386
Institutional Source Beutler Lab
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Name propionyl-Coenzyme A carboxylase, alpha polypeptide
Synonyms C79630
MMRRC Submission 045307-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 122771736-123128512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123114186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 633 (H633R)
Ref Sequence ENSEMBL: ENSMUSP00000038763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000110679] [ENSMUST00000152383]
AlphaFold Q91ZA3
Predicted Effect probably benign
Transcript: ENSMUST00000038374
AA Change: H633R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: H633R

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 58 167 2.1e-48 PFAM
Pfam:ATP-grasp_4 169 351 3.8e-15 PFAM
Pfam:RimK 170 372 5.6e-7 PFAM
Pfam:CPSase_L_D2 172 381 2.8e-87 PFAM
Pfam:ATP-grasp 181 351 9.8e-10 PFAM
Pfam:Dala_Dala_lig_C 192 349 7.7e-12 PFAM
Biotin_carb_C 393 501 4.27e-46 SMART
Pfam:Biotin_lipoyl 656 723 1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110679
SMART Domains Protein: ENSMUSP00000135487
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:AIG2 4 71 3.7e-12 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000152383
AA Change: H113R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650
AA Change: H113R

DomainStartEndE-ValueType
Pfam:SLT_beta 32 106 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177312
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q probably damaging Het
Other mutations in Pcca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pcca APN 14 122,820,041 (GRCm39) missense probably benign 0.22
IGL00906:Pcca APN 14 122,927,545 (GRCm39) missense probably benign 0.34
IGL00975:Pcca APN 14 123,114,312 (GRCm39) missense probably damaging 1.00
IGL01329:Pcca APN 14 122,927,545 (GRCm39) missense possibly damaging 0.50
IGL01353:Pcca APN 14 122,820,029 (GRCm39) missense probably damaging 0.98
IGL01672:Pcca APN 14 122,927,557 (GRCm39) missense probably benign 0.02
IGL02621:Pcca APN 14 122,922,391 (GRCm39) missense probably damaging 0.99
IGL02695:Pcca APN 14 122,820,150 (GRCm39) splice site probably benign
IGL02749:Pcca APN 14 122,771,800 (GRCm39) missense probably benign 0.00
IGL02971:Pcca APN 14 123,126,945 (GRCm39) missense probably damaging 0.96
IGL03290:Pcca APN 14 122,822,518 (GRCm39) missense possibly damaging 0.52
IGL03052:Pcca UTSW 14 123,124,513 (GRCm39) missense probably benign
PIT4812001:Pcca UTSW 14 123,027,794 (GRCm39) missense probably benign 0.00
R0549:Pcca UTSW 14 122,875,789 (GRCm39) splice site probably benign
R0866:Pcca UTSW 14 123,126,957 (GRCm39) missense possibly damaging 0.95
R1498:Pcca UTSW 14 122,854,230 (GRCm39) missense probably damaging 1.00
R1749:Pcca UTSW 14 122,938,542 (GRCm39) missense probably damaging 0.97
R2002:Pcca UTSW 14 123,124,477 (GRCm39) missense probably benign 0.00
R2020:Pcca UTSW 14 123,050,634 (GRCm39) missense possibly damaging 0.64
R2086:Pcca UTSW 14 122,923,527 (GRCm39) missense probably damaging 0.99
R3780:Pcca UTSW 14 122,922,297 (GRCm39) missense probably damaging 1.00
R5023:Pcca UTSW 14 123,027,810 (GRCm39) missense probably damaging 1.00
R5643:Pcca UTSW 14 123,124,481 (GRCm39) missense probably damaging 1.00
R5644:Pcca UTSW 14 123,124,481 (GRCm39) missense probably damaging 1.00
R5943:Pcca UTSW 14 122,896,188 (GRCm39) missense probably damaging 0.99
R5966:Pcca UTSW 14 122,905,998 (GRCm39) missense probably damaging 0.96
R6295:Pcca UTSW 14 122,896,187 (GRCm39) missense probably benign 0.10
R6317:Pcca UTSW 14 122,820,035 (GRCm39) missense probably damaging 1.00
R6319:Pcca UTSW 14 122,820,035 (GRCm39) missense probably damaging 1.00
R6361:Pcca UTSW 14 122,875,794 (GRCm39) missense probably benign 0.07
R6989:Pcca UTSW 14 122,887,700 (GRCm39) missense probably damaging 1.00
R7841:Pcca UTSW 14 122,800,384 (GRCm39) missense probably benign 0.03
R8026:Pcca UTSW 14 122,875,794 (GRCm39) missense probably benign 0.07
R8463:Pcca UTSW 14 122,922,526 (GRCm39) splice site probably null
R8769:Pcca UTSW 14 122,854,260 (GRCm39) missense probably benign 0.01
R8889:Pcca UTSW 14 122,795,123 (GRCm39) splice site probably benign
R8956:Pcca UTSW 14 122,975,324 (GRCm39) missense probably benign
R9287:Pcca UTSW 14 122,854,178 (GRCm39) missense probably benign 0.00
R9336:Pcca UTSW 14 122,887,738 (GRCm39) missense probably benign 0.04
R9447:Pcca UTSW 14 122,854,290 (GRCm39) missense probably damaging 0.99
R9606:Pcca UTSW 14 122,901,717 (GRCm39) missense probably damaging 1.00
RF024:Pcca UTSW 14 122,922,310 (GRCm39) missense probably damaging 1.00
X0026:Pcca UTSW 14 122,854,203 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- GCAGTGTTCCTCAAGCAAAATC -3'
(R):5'- AGTCTGAGCCCAGCATATCC -3'

Sequencing Primer
(F):5'- GTGTTCCTCAAGCAAAATCCTTACTG -3'
(R):5'- TATCCCTCACACAGAAGTACTCTTAC -3'
Posted On 2019-06-26