Incidental Mutation 'R5454:Prkar1a'
ID 432686
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 043018-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5454 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109540231-109560482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109550886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 80 (D80G)
Ref Sequence ENSEMBL: ENSMUSP00000102288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049527] [ENSMUST00000106676] [ENSMUST00000106677]
AlphaFold Q9DBC7
Predicted Effect probably benign
Transcript: ENSMUST00000049527
AA Change: D80G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612
AA Change: D80G

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 benign
Transcript: ENSMUST00000106676
AA Change: D80G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102287
Gene: ENSMUSG00000020612
AA Change: D80G

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 benign
Transcript: ENSMUST00000106677
AA Change: D80G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612
AA Change: D80G

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
Meta Mutation Damage Score 0.0850 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (60/60)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T C 9: 89,051,041 (GRCm39) noncoding transcript Het
Ankfy1 A T 11: 72,637,757 (GRCm39) H483L probably benign Het
Ankrd46 C T 15: 36,479,447 (GRCm39) G215R probably damaging Het
Apobec1 T C 6: 122,558,327 (GRCm39) I143V probably benign Het
Atp2b4 C A 1: 133,657,610 (GRCm39) V627F probably damaging Het
Ccdc80 T A 16: 44,947,588 (GRCm39) Y855* probably null Het
Cd209b T C 8: 3,975,396 (GRCm39) E88G probably damaging Het
Ceacam14 T G 7: 17,548,110 (GRCm39) W67G probably damaging Het
Cope T C 8: 70,757,306 (GRCm39) V50A probably benign Het
Dcaf13 C A 15: 38,987,759 (GRCm39) D168E probably benign Het
Dhcr7 T G 7: 143,391,576 (GRCm39) M55R probably damaging Het
Enpp7 A T 11: 118,879,634 (GRCm39) Y96F probably benign Het
Esco1 T C 18: 10,584,327 (GRCm39) D60G probably benign Het
Fgfr3 G A 5: 33,880,642 (GRCm39) probably benign Het
Frzb T C 2: 80,248,259 (GRCm39) D280G probably damaging Het
Gcat A G 15: 78,920,610 (GRCm39) I317V probably benign Het
Gm13030 A T 4: 138,600,820 (GRCm39) probably benign Het
Gmds A G 13: 32,312,024 (GRCm39) L135P probably damaging Het
Htra2 G A 6: 83,030,995 (GRCm39) P138L probably damaging Het
Il5 A G 11: 53,614,626 (GRCm39) N89S probably damaging Het
Ints3 G A 3: 90,315,834 (GRCm39) T310M possibly damaging Het
Itih2 T C 2: 10,102,804 (GRCm39) I777V probably null Het
Kctd9 T C 14: 67,977,836 (GRCm39) L382S probably damaging Het
Loricrin A G 3: 91,988,789 (GRCm39) S166P unknown Het
Mga T A 2: 119,733,810 (GRCm39) N219K probably damaging Het
Mtmr4 A T 11: 87,501,868 (GRCm39) R641* probably null Het
Muc6 C T 7: 141,235,078 (GRCm39) A611T possibly damaging Het
Obox3-ps8 A T 17: 36,763,903 (GRCm39) noncoding transcript Het
Or5p54 A T 7: 107,554,096 (GRCm39) M83L probably benign Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pcdhga12 T A 18: 37,899,314 (GRCm39) S49T possibly damaging Het
Pcdhgc3 A G 18: 37,941,549 (GRCm39) D650G probably damaging Het
Pcmt1 A G 10: 7,516,509 (GRCm39) V167A probably damaging Het
Pcnt A T 10: 76,225,381 (GRCm39) probably null Het
Pcx G T 19: 4,652,504 (GRCm39) V164F probably damaging Het
Plekhg4 T C 8: 106,102,745 (GRCm39) probably null Het
Pmch A G 10: 87,927,707 (GRCm39) E136G probably damaging Het
Ryr3 T C 2: 112,560,647 (GRCm39) probably null Het
Slc10a7 T C 8: 79,413,253 (GRCm39) S171P possibly damaging Het
Sox6 A T 7: 115,301,008 (GRCm39) M153K possibly damaging Het
Srgap2 T C 1: 131,217,475 (GRCm39) I946V probably benign Het
Strbp T C 2: 37,535,495 (GRCm39) E71G probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tnrc18 T C 5: 142,757,446 (GRCm39) D1025G unknown Het
Tnxb A G 17: 34,928,599 (GRCm39) H2671R possibly damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Umodl1 A T 17: 31,205,439 (GRCm39) D649V possibly damaging Het
Usp13 G T 3: 32,959,585 (GRCm39) A559S probably damaging Het
Vps45 G A 3: 95,926,969 (GRCm39) P526L probably benign Het
Zfp687 A G 3: 94,916,457 (GRCm39) V855A probably damaging Het
Zfp771 T A 7: 126,853,448 (GRCm39) C205S probably damaging 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
R7745:Prkar1a UTSW 11 109,544,673 (GRCm39) nonsense probably null
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'- TCCCCACCATCTTGGAACTGAC -3'
(R):5'- TCAAGCGCTAACAAGTGCAC -3'

Sequencing Primer
(F):5'- CACCATCTTGGAACTGACTTATTC -3'
(R):5'- GCTAACAAGTGCACCCTTGTC -3'
Posted On 2016-10-06