Incidental Mutation 'R5221:Ppp1r14a'
ID 402316
Institutional Source Beutler Lab
Gene Symbol Ppp1r14a
Ensembl Gene ENSMUSG00000037166
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14A
Synonyms 1110001M11Rik, Cpi17
MMRRC Submission 042794-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5221 (G1)
Quality Score 189
Status Validated
Chromosome 7
Chromosomal Location 28988732-28992817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28988926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 56 (I56N)
Ref Sequence ENSEMBL: ENSMUSP00000146684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048187] [ENSMUST00000207714]
AlphaFold Q91VC7
Predicted Effect probably damaging
Transcript: ENSMUST00000048187
AA Change: I56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035642
Gene: ENSMUSG00000037166
AA Change: I56N

DomainStartEndE-ValueType
Pfam:PP1_inhibitor 1 136 2.1e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207714
AA Change: I56N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9106 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (53/54)
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 protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T C 3: 92,335,815 (GRCm39) I296V probably benign Het
Antkmt T C 17: 26,010,613 (GRCm39) N67S possibly damaging Het
Arhgap26 T A 18: 39,243,525 (GRCm39) Y134* probably null Het
Asap2 A G 12: 21,263,191 (GRCm39) I269V probably benign Het
Bean1 A T 8: 104,941,784 (GRCm39) D34V probably damaging Het
C8a C T 4: 104,703,122 (GRCm39) V312M probably damaging Het
Ccser1 T C 6: 61,289,075 (GRCm39) S413P probably damaging Het
Col4a2 A G 8: 11,498,225 (GRCm39) N1678S probably benign Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Dsg1a T A 18: 20,457,071 (GRCm39) M148K possibly damaging Het
Farp2 T A 1: 93,504,140 (GRCm39) C306S probably damaging Het
Frem2 A G 3: 53,493,032 (GRCm39) V1828A probably damaging Het
Gm6457 T C 18: 14,703,174 (GRCm39) noncoding transcript Het
Gmip T G 8: 70,266,785 (GRCm39) V300G probably damaging Het
Gstp3 A G 19: 4,107,607 (GRCm39) S186P probably damaging Het
Gvin-ps3 G C 7: 105,683,181 (GRCm39) noncoding transcript Het
Kl G T 5: 150,912,616 (GRCm39) L788F probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrp1b A C 2: 41,002,994 (GRCm39) S1932A possibly damaging Het
Lrrc36 A G 8: 106,170,488 (GRCm39) T234A probably damaging Het
Mafa T A 15: 75,618,891 (GRCm39) Q294L possibly damaging Het
Mesp2 C T 7: 79,461,467 (GRCm39) T264I possibly damaging Het
Mindy4 A G 6: 55,201,092 (GRCm39) Y259C probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2d3c A T 7: 106,526,268 (GRCm39) S133T probably benign Het
Or5as1 T C 2: 86,980,825 (GRCm39) Y60C probably damaging Het
Or5m13b A G 2: 85,754,493 (GRCm39) N294D probably damaging Het
Or8b48 A T 9: 38,493,148 (GRCm39) T192S probably damaging Het
Pcm1 T C 8: 41,741,193 (GRCm39) probably null Het
Plxna1 T C 6: 89,297,998 (GRCm39) D1760G probably damaging Het
Polq T A 16: 36,862,540 (GRCm39) D345E probably damaging Het
Ppp1r1a G A 15: 103,441,477 (GRCm39) P79S probably damaging Het
Ptprf C T 4: 118,082,305 (GRCm39) R1010H probably benign Het
Rai1 A G 11: 60,081,423 (GRCm39) E1829G probably damaging Het
Rmdn3 A G 2: 118,986,935 (GRCm39) Y31H probably damaging Het
Rrh T C 3: 129,609,280 (GRCm39) S69G probably damaging Het
Skint6 A T 4: 112,752,121 (GRCm39) probably null Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Sltm T G 9: 70,486,685 (GRCm39) L450R probably damaging Het
Sufu T C 19: 46,439,404 (GRCm39) probably null Het
Tmem68 T C 4: 3,560,561 (GRCm39) T208A possibly damaging Het
Tnc T A 4: 63,911,534 (GRCm39) R1346* probably null Het
Tpbg T C 9: 85,726,478 (GRCm39) L149P probably damaging Het
Trappc14 C T 5: 138,260,502 (GRCm39) S308N probably benign Het
Ubtf G A 11: 102,198,816 (GRCm39) Q585* probably null Het
Vmn2r68 A T 7: 84,871,085 (GRCm39) C733S probably damaging Het
Vmn2r-ps158 T A 7: 42,672,684 (GRCm39) H106Q probably benign Het
Wscd1 G T 11: 71,659,501 (GRCm39) G194W possibly damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp462 T A 4: 55,016,887 (GRCm39) V870E possibly damaging Het
Other mutations in Ppp1r14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Ppp1r14a APN 7 28,992,622 (GRCm39) missense probably benign 0.01
R4784:Ppp1r14a UTSW 7 28,991,486 (GRCm39) missense possibly damaging 0.82
R4801:Ppp1r14a UTSW 7 28,990,951 (GRCm39) missense probably damaging 1.00
R4802:Ppp1r14a UTSW 7 28,990,951 (GRCm39) missense probably damaging 1.00
R5530:Ppp1r14a UTSW 7 28,988,791 (GRCm39) missense probably benign 0.07
R5588:Ppp1r14a UTSW 7 28,992,709 (GRCm39) missense probably damaging 1.00
R7233:Ppp1r14a UTSW 7 28,988,949 (GRCm39) missense probably damaging 1.00
R7334:Ppp1r14a UTSW 7 28,992,687 (GRCm39) missense probably damaging 0.99
R9556:Ppp1r14a UTSW 7 28,988,944 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTAGCCAGCTTGCCTCTGC -3'
(R):5'- ATCCTGGGTGCATGTCTGAG -3'

Sequencing Primer
(F):5'- ATTAAGATCCCGGAGCGCG -3'
(R):5'- GAGCTGGATGCCTCTAAGC -3'
Posted On 2016-07-22