Incidental Mutation 'R5588:Ppp1r14a'
ID 438885
Institutional Source Beutler Lab
Gene Symbol Ppp1r14a
Ensembl Gene ENSMUSG00000037166
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14A
Synonyms 1110001M11Rik, Cpi17
MMRRC Submission 043268-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5588 (G1)
Quality Score 172
Status Not validated
Chromosome 7
Chromosomal Location 28988732-28992817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28992709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 137 (P137L)
Ref Sequence ENSEMBL: ENSMUSP00000035642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048187] [ENSMUST00000207714]
AlphaFold Q91VC7
Predicted Effect probably damaging
Transcript: ENSMUST00000048187
AA Change: P137L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035642
Gene: ENSMUSG00000037166
AA Change: P137L

DomainStartEndE-ValueType
Pfam:PP1_inhibitor 1 136 2.1e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207714
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,949,417 (GRCm39) Q1105K possibly damaging Het
Afg3l2 A T 18: 67,573,277 (GRCm39) V175D possibly damaging Het
Aldh1a2 G A 9: 71,190,732 (GRCm39) R325H probably damaging Het
Arhgef18 T A 8: 3,438,878 (GRCm39) probably benign Het
Atp8a1 A G 5: 67,972,027 (GRCm39) L43P probably damaging Het
Bdh1 T C 16: 31,256,937 (GRCm39) probably null Het
Ccdc85c T C 12: 108,177,793 (GRCm39) Y320C probably damaging Het
Cobl A T 11: 12,293,886 (GRCm39) L290* probably null Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Dhx34 T C 7: 15,932,825 (GRCm39) H1038R probably damaging Het
Eea1 T C 10: 95,859,772 (GRCm39) V686A probably benign Het
Eif2b4 A T 5: 31,349,517 (GRCm39) C101* probably null Het
Eif4a3 A C 11: 119,186,952 (GRCm39) S84A probably benign Het
Elfn2 T C 15: 78,558,076 (GRCm39) D157G probably damaging Het
Fat2 T A 11: 55,173,103 (GRCm39) I2537F probably damaging Het
Fbxo38 A G 18: 62,659,248 (GRCm39) F350L probably damaging Het
Fgd3 A T 13: 49,440,786 (GRCm39) L215Q probably damaging Het
Fhdc1 A G 3: 84,372,783 (GRCm39) V73A possibly damaging Het
Gapvd1 T A 2: 34,599,166 (GRCm39) T690S probably damaging Het
Gask1a C T 9: 121,794,247 (GRCm39) Q134* probably null Het
Gm14418 A T 2: 177,079,065 (GRCm39) I310K probably benign Het
Gm5141 A T 13: 62,921,584 (GRCm39) N528K probably benign Het
Gsap A C 5: 21,456,147 (GRCm39) E417A probably damaging Het
Kcnab1 A C 3: 65,283,976 (GRCm39) D398A possibly damaging Het
Kif5b T G 18: 6,225,787 (GRCm39) N160T probably benign Het
Lilrb4b G A 10: 51,357,422 (GRCm39) R86Q probably benign Het
Lmo7 T C 14: 102,134,026 (GRCm39) probably null Het
Mlph T C 1: 90,859,321 (GRCm39) S219P possibly damaging Het
Ncapg2 T C 12: 116,376,697 (GRCm39) I95T possibly damaging Het
Nedd9 A T 13: 41,469,437 (GRCm39) I572N possibly damaging Het
Nup155 G A 15: 8,148,737 (GRCm39) probably null Het
Olfml2a T C 2: 38,850,047 (GRCm39) S588P probably damaging Het
Or4a68 T C 2: 89,269,760 (GRCm39) R288G probably damaging Het
Or4c12 T A 2: 89,774,136 (GRCm39) T108S probably benign Het
Or6c1 T G 10: 129,517,705 (GRCm39) N301T possibly damaging Het
Parva C A 7: 112,159,269 (GRCm39) N142K possibly damaging Het
Pclo T A 5: 14,838,412 (GRCm39) S4678R unknown Het
Pcnt T C 10: 76,278,445 (GRCm39) D3G possibly damaging Het
Pdzd2 A C 15: 12,374,367 (GRCm39) S1923A possibly damaging Het
Per1 G A 11: 68,998,453 (GRCm39) G1055D probably damaging Het
Phf8-ps G A 17: 33,285,249 (GRCm39) Q518* probably null Het
Plb1 G A 5: 32,487,293 (GRCm39) probably null Het
Rfx2 A T 17: 57,086,890 (GRCm39) S612T possibly damaging Het
Rtel1 T C 2: 180,993,893 (GRCm39) F642L probably benign Het
Sec14l3 T C 11: 4,016,138 (GRCm39) F19S probably damaging Het
Skint8 A T 4: 111,794,089 (GRCm39) M160L probably benign Het
Slc19a3 G T 1: 83,000,776 (GRCm39) Y80* probably null Het
Slc37a1 T A 17: 31,565,431 (GRCm39) W489R probably damaging Het
Smc4 A G 3: 68,933,190 (GRCm39) I604V probably benign Het
Srprb G T 9: 103,076,048 (GRCm39) Y796* probably null Het
Tdrd7 T A 4: 45,992,225 (GRCm39) S220T probably benign Het
Tex15 T C 8: 34,067,215 (GRCm39) F2215S probably damaging Het
Ticrr C T 7: 79,328,853 (GRCm39) A664V probably damaging Het
Tnc T G 4: 63,924,659 (GRCm39) D1013A possibly damaging Het
Tpte T A 8: 22,774,983 (GRCm39) Y18N possibly damaging Het
Ubqlnl T A 7: 103,798,339 (GRCm39) Q386L probably damaging Het
Vmn1r194 T C 13: 22,428,512 (GRCm39) V43A possibly damaging Het
Vmn2r130 A T 17: 23,282,803 (GRCm39) Q161L probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zfhx4 T G 3: 5,468,198 (GRCm39) D2785E probably 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
R5221:Ppp1r14a UTSW 7 28,988,926 (GRCm39) missense probably damaging 1.00
R5530:Ppp1r14a UTSW 7 28,988,791 (GRCm39) missense probably benign 0.07
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'- TCGAATAAGCTGTTGCCCAAAG -3'
(R):5'- CCAGGAGGAATGTTTCTCCG -3'

Sequencing Primer
(F):5'- CTGTTGCCCAAAGAGACACAGG -3'
(R):5'- AGGAATGTTTCTCCGTCTGTCAG -3'
Posted On 2016-10-26