Incidental Mutation 'R7745:Prkar1a'
ID 596812
Institutional Source Beutler Lab
Gene Symbol Prkar1a
Ensembl Gene ENSMUSG00000020612
Gene Name protein kinase, cAMP dependent regulatory, type I, alpha
Synonyms Tse-1, 1300018C22Rik, Tse1, RIalpha
MMRRC Submission 045801-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7745 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109540231-109560482 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 109544673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 21 (Y21*)
Ref Sequence ENSEMBL: ENSMUSP00000056500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049527] [ENSMUST00000106676] [ENSMUST00000106677]
AlphaFold Q9DBC7
Predicted Effect probably null
Transcript: ENSMUST00000049527
AA Change: Y21*
SMART Domains Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612
AA Change: Y21*

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
cNMP 137 253 2.99e-32 SMART
cNMP 255 374 1.74e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106676
AA Change: Y21*
SMART Domains Protein: ENSMUSP00000102287
Gene: ENSMUSG00000020612
AA Change: Y21*

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
SCOP:d1cx4a1 115 168 8e-9 SMART
Blast:cNMP 137 168 6e-15 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000106677
AA Change: Y21*
SMART Domains Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612
AA Change: Y21*

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
cNMP 137 253 2.99e-32 SMART
cNMP 255 374 1.74e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: The encoded protein is a regulatory subunit of the cAMP-dependent protein kinase (PKA) complex, which is responsible for transducing most of the cAMP signals in eukaryotic cells. The inactive PKA complex contains two regulatory and two catalytic subunits. Binding of cAMP dissociates the complex, allowing monomeric catalytic subunits to phosphorylate cytosolic proteins or induce gene expression in the nucleus. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis due to developmental patterning defects. Mice heterozygous for a null allele exhibit background sensitive infertility and increased tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A C 3: 59,945,893 (GRCm39) S188R probably damaging Het
Aars1 T A 8: 111,768,289 (GRCm39) I220N probably damaging Het
Abca15 A G 7: 119,931,440 (GRCm39) N16S probably damaging Het
Adck1 A T 12: 88,423,570 (GRCm39) M358L probably benign Het
Adck5 A T 15: 76,478,748 (GRCm39) Q345L probably benign Het
Adgrl2 A G 3: 148,542,094 (GRCm39) F876S probably damaging Het
Aebp2 T A 6: 140,569,584 (GRCm39) L55Q unknown Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Aox3 T C 1: 58,215,676 (GRCm39) V1036A possibly damaging Het
Aox4 A G 1: 58,279,866 (GRCm39) D494G probably benign Het
Cacna1a C A 8: 85,286,023 (GRCm39) H889Q probably benign Het
Cacna1c T C 6: 119,029,587 (GRCm39) D151G Het
Car8 A G 4: 8,237,939 (GRCm39) V92A possibly damaging Het
Ccdc8 G T 7: 16,729,614 (GRCm39) A368S unknown Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cntnap5a A G 1: 116,370,013 (GRCm39) I877V probably benign Het
Copa A T 1: 171,939,509 (GRCm39) D582V probably damaging Het
Cpne2 T G 8: 95,295,312 (GRCm39) S466A probably damaging Het
Crybg2 A G 4: 133,816,156 (GRCm39) K1311R possibly damaging Het
Csmd1 A G 8: 15,982,461 (GRCm39) probably null Het
Dnah2 A T 11: 69,342,144 (GRCm39) C2947* probably null Het
Exoc1 A T 5: 76,709,359 (GRCm39) K656* probably null Het
Exoc8 T C 8: 125,622,558 (GRCm39) N603S probably benign Het
Fam171a1 T A 2: 3,226,483 (GRCm39) C539S possibly damaging Het
Fastkd5 A T 2: 130,456,988 (GRCm39) I534K probably damaging Het
Fbn1 T C 2: 125,145,115 (GRCm39) D2708G probably benign Het
Fhad1 A G 4: 141,618,250 (GRCm39) L1392P probably benign Het
Fras1 A T 5: 96,874,754 (GRCm39) T2306S probably benign Het
Gdf7 G T 12: 8,351,854 (GRCm39) A27E unknown Het
Hnrnph1 A T 11: 50,270,324 (GRCm39) I43F probably damaging Het
Igkv8-27 T A 6: 70,148,999 (GRCm39) S52C probably benign Het
Jmjd1c T C 10: 67,052,824 (GRCm39) F24L probably damaging Het
Knl1 T G 2: 118,902,037 (GRCm39) L1246R probably benign Het
Limk2 C T 11: 3,305,896 (GRCm39) S191N probably damaging Het
Mdga2 C A 12: 66,736,125 (GRCm39) A368S possibly damaging Het
Mdga2 G A 12: 66,736,124 (GRCm39) A368V probably damaging Het
Med24 A T 11: 98,595,793 (GRCm39) L966Q probably damaging Het
Mgll T C 6: 88,702,770 (GRCm39) V23A possibly damaging Het
Nedd1 C T 10: 92,550,034 (GRCm39) D84N probably benign Het
Obscn A C 11: 58,951,681 (GRCm39) L4024R probably damaging Het
Or5k1b A T 16: 58,580,782 (GRCm39) Y252* probably null Het
Pcnx2 T C 8: 126,577,846 (GRCm39) I944V probably benign Het
Pecr T C 1: 72,306,157 (GRCm39) probably null Het
Phf3 A T 1: 30,843,305 (GRCm39) W1885R probably damaging Het
Pitpnm2 C G 5: 124,266,768 (GRCm39) A697P probably benign Het
Piwil2 T A 14: 70,631,638 (GRCm39) H602L probably benign Het
Pprc1 T C 19: 46,053,781 (GRCm39) S1104P unknown Het
Prl2c3 A T 13: 12,813,186 (GRCm39) Y9* probably null Het
Rhbdl3 T A 11: 80,214,405 (GRCm39) L172Q possibly damaging Het
Rsph3a T G 17: 8,198,075 (GRCm39) L484W probably damaging Het
Sbno1 A T 5: 124,530,962 (GRCm39) S809T probably benign Het
Stmnd1 T A 13: 46,453,077 (GRCm39) V251E possibly damaging Het
Stt3a A T 9: 36,662,535 (GRCm39) C241* probably null Het
Tas2r114 A T 6: 131,666,401 (GRCm39) M209K probably damaging Het
Tchh G T 3: 93,352,084 (GRCm39) R508L unknown Het
Tgfbr3l T C 8: 4,300,622 (GRCm39) S267P possibly damaging Het
Ttn T A 2: 76,598,144 (GRCm39) I19590F probably damaging Het
Vmn1r171 A G 7: 23,332,035 (GRCm39) T87A probably benign Het
Other mutations in Prkar1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Prkar1a APN 11 109,551,877 (GRCm39) missense probably benign 0.25
IGL02108:Prkar1a APN 11 109,558,351 (GRCm39) missense probably damaging 1.00
IGL02227:Prkar1a APN 11 109,551,001 (GRCm39) splice site probably benign
IGL03008:Prkar1a APN 11 109,544,690 (GRCm39) missense probably damaging 0.99
R3900:Prkar1a UTSW 11 109,551,901 (GRCm39) missense probably benign 0.29
R5454:Prkar1a UTSW 11 109,550,886 (GRCm39) missense probably benign 0.01
R8921:Prkar1a UTSW 11 109,556,744 (GRCm39) missense probably benign 0.02
R9789:Prkar1a UTSW 11 109,556,778 (GRCm39) missense probably damaging 1.00
Z1176:Prkar1a UTSW 11 109,550,839 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAAATGTTTGAATCTGCTGTCTCG -3'
(R):5'- TGCTTGACTTACTTGGCCAG -3'

Sequencing Primer
(F):5'- CGTGAATTTAAGTAAGTCCCAGGCC -3'
(R):5'- CAGTTGACATTCAGAAGCTCTAAGC -3'
Posted On 2019-11-26