Incidental Mutation 'R9477:Ppp1r42'
ID 715827
Institutional Source Beutler Lab
Gene Symbol Ppp1r42
Ensembl Gene ENSMUSG00000025916
Gene Name protein phosphatase 1, regulatory subunit 42
Synonyms 1700011J18Rik, 4930418G15Rik, Lrrc67
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9477 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 10038849-10079361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10055854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 211 (K211N)
Ref Sequence ENSEMBL: ENSMUSP00000027049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027049] [ENSMUST00000124874] [ENSMUST00000130102] [ENSMUST00000176398]
AlphaFold Q8R1Z4
Predicted Effect probably damaging
Transcript: ENSMUST00000027049
AA Change: K211N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027049
Gene: ENSMUSG00000025916
AA Change: K211N

DomainStartEndE-ValueType
Pfam:LRR_8 50 106 2.5e-8 PFAM
Pfam:LRR_4 72 114 2.3e-11 PFAM
low complexity region 146 164 N/A INTRINSIC
low complexity region 184 201 N/A INTRINSIC
low complexity region 243 259 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124874
AA Change: K211N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115309
Gene: ENSMUSG00000025916
AA Change: K211N

DomainStartEndE-ValueType
Pfam:LRR_8 50 106 2e-8 PFAM
Pfam:LRR_6 71 94 5.9e-3 PFAM
Pfam:LRR_4 72 117 3.8e-11 PFAM
Pfam:LRR_8 72 128 1.3e-8 PFAM
Pfam:LRR_1 73 93 3.4e-3 PFAM
Pfam:LRR_6 145 172 2.2e-3 PFAM
low complexity region 184 201 N/A INTRINSIC
low complexity region 243 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130102
SMART Domains Protein: ENSMUSP00000115030
Gene: ENSMUSG00000025916

DomainStartEndE-ValueType
Pfam:LRR_6 49 68 4.4e-2 PFAM
Pfam:LRR_8 50 106 2.3e-8 PFAM
Pfam:LRR_6 71 95 6.8e-3 PFAM
Pfam:LRR_4 72 116 6.9e-11 PFAM
Pfam:LRR_8 72 128 1.5e-8 PFAM
Pfam:LRR_1 73 93 5.1e-3 PFAM
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000176398
AA Change: K31N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135276
Gene: ENSMUSG00000025916
AA Change: K31N

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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 can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A T 1: 89,765,485 (GRCm39) M618L probably benign Het
Anxa2r2 A T 13: 120,488,282 (GRCm39) I89N probably damaging Het
App C A 16: 84,853,392 (GRCm39) A229S unknown Het
B020011L13Rik G T 1: 117,728,903 (GRCm39) E137* probably null Het
BC034090 C T 1: 155,102,087 (GRCm39) G59E probably damaging Het
C1ra A G 6: 124,499,455 (GRCm39) D547G probably benign Het
Cdh2 A T 18: 16,755,212 (GRCm39) D774E probably damaging Het
Cdon A G 9: 35,403,201 (GRCm39) N1104D probably damaging Het
Cecr2 G A 6: 120,720,743 (GRCm39) probably null Het
Ces2b A T 8: 105,560,556 (GRCm39) N124Y probably damaging Het
Cfap61 A G 2: 145,985,032 (GRCm39) T959A probably benign Het
Chaf1a A T 17: 56,369,244 (GRCm39) K492* probably null Het
Clec14a A G 12: 58,314,620 (GRCm39) V334A probably benign Het
Col6a3 A G 1: 90,706,621 (GRCm39) I2771T unknown Het
Creb3 T C 4: 43,566,298 (GRCm39) L244P probably damaging Het
Crispld1 T C 1: 17,816,956 (GRCm39) V171A probably benign Het
Crmp1 T C 5: 37,446,182 (GRCm39) Y613H probably damaging Het
Csrnp3 G A 2: 65,852,819 (GRCm39) V416I probably benign Het
Dhrs1 A G 14: 55,976,868 (GRCm39) V272A probably benign Het
Dip2b T C 15: 99,936,784 (GRCm39) S32P probably damaging Het
Dpp10 G T 1: 123,304,370 (GRCm39) T510K possibly damaging Het
Dst A G 1: 34,205,292 (GRCm39) Y820C probably damaging Het
Efcab3 A T 11: 104,836,698 (GRCm39) H3562L unknown Het
Fam3c A T 6: 22,308,479 (GRCm39) M238K probably damaging Het
Fcgbpl1 T C 7: 27,852,265 (GRCm39) F1263L probably damaging Het
Fcrl2 A T 3: 87,159,803 (GRCm39) C484S probably damaging Het
Fsd1 T C 17: 56,295,720 (GRCm39) L97P possibly damaging Het
Gapdhs T C 7: 30,431,682 (GRCm39) I310V probably damaging Het
Gimap4 A T 6: 48,667,314 (GRCm39) N23I probably benign Het
Gpr21 T A 2: 37,408,386 (GRCm39) F311I probably damaging Het
Grm1 T C 10: 10,595,405 (GRCm39) E741G probably benign Het
Gsto2 G A 19: 47,864,911 (GRCm39) R148H probably benign Het
Gzmd A G 14: 56,368,813 (GRCm39) V27A probably benign Het
Hbp1 A G 12: 31,980,766 (GRCm39) C446R probably damaging Het
Hmcn2 A T 2: 31,286,031 (GRCm39) probably null Het
Ifi205 G A 1: 173,854,155 (GRCm39) T166I probably benign Het
Il23a T A 10: 128,133,922 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Jag1 A T 2: 136,936,409 (GRCm39) C362S probably damaging Het
Jmjd1c A T 10: 66,993,734 (GRCm39) R72* probably null Het
Kcna6 A G 6: 126,716,361 (GRCm39) I176T probably damaging Het
Marchf1 T C 8: 66,871,542 (GRCm39) V102A probably damaging Het
Mast1 T C 8: 85,638,779 (GRCm39) K1517E probably benign Het
Mbnl1 A G 3: 60,520,769 (GRCm39) D119G probably damaging Het
Mfsd8 A G 3: 40,785,057 (GRCm39) probably null Het
Mtus2 T G 5: 148,014,740 (GRCm39) V511G probably benign Het
Myot A C 18: 44,470,333 (GRCm39) Q103H probably benign Het
Nrip2 G A 6: 128,377,145 (GRCm39) D24N probably benign Het
Ntm T A 9: 29,322,922 (GRCm39) S33C probably benign Het
Nus1 C T 10: 52,294,001 (GRCm39) T55M possibly damaging Het
Or4c112 G A 2: 88,853,615 (GRCm39) T244I probably benign Het
Pik3cb C T 9: 98,922,973 (GRCm39) probably null Het
Pogk T C 1: 166,227,404 (GRCm39) N249S probably damaging Het
Pou1f1 C T 16: 65,320,503 (GRCm39) T66I possibly damaging Het
Ppp2r3d C A 9: 124,476,857 (GRCm38) D2Y Het
Prdm5 A T 6: 65,771,342 (GRCm39) N51I possibly damaging Het
Rif1 G A 2: 52,001,342 (GRCm39) A1599T probably benign Het
Sema3c G A 5: 17,921,981 (GRCm39) A520T Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Spice1 T A 16: 44,197,183 (GRCm39) N489K possibly damaging Het
Sptbn4 A G 7: 27,132,624 (GRCm39) M116T possibly damaging Het
Supt5 T A 7: 28,025,500 (GRCm39) N249Y probably damaging Het
Tex2 A G 11: 106,410,706 (GRCm39) probably null Het
Trhde T A 10: 114,338,980 (GRCm39) E610V probably benign Het
Trmt12 T C 15: 58,745,471 (GRCm39) S290P possibly damaging Het
Trpm2 C T 10: 77,747,224 (GRCm39) V1425M probably benign Het
Uaca T C 9: 60,778,108 (GRCm39) S832P probably benign Het
Vcan T A 13: 89,841,128 (GRCm39) D1472V probably damaging Het
Virma A G 4: 11,528,753 (GRCm39) E1330G probably damaging Het
Vmn1r125 T G 7: 21,006,261 (GRCm39) V53G possibly damaging Het
Vmn2r27 A T 6: 124,168,910 (GRCm39) I740N probably damaging Het
Vmn2r70 C T 7: 85,218,244 (GRCm39) C18Y possibly damaging Het
Zfp35 A G 18: 24,136,188 (GRCm39) I177M possibly damaging Het
Zfp532 T C 18: 65,777,428 (GRCm39) I895T probably benign Het
Zfp58 C A 13: 67,640,158 (GRCm39) C111F probably damaging Het
Other mutations in Ppp1r42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Ppp1r42 APN 1 10,073,458 (GRCm39) critical splice donor site probably null
IGL02739:Ppp1r42 APN 1 10,039,078 (GRCm39) missense probably benign 0.34
G1patch:Ppp1r42 UTSW 1 10,069,732 (GRCm39) missense probably damaging 1.00
R0920:Ppp1r42 UTSW 1 10,069,750 (GRCm39) missense probably damaging 1.00
R1829:Ppp1r42 UTSW 1 10,070,311 (GRCm39) missense probably benign 0.00
R2151:Ppp1r42 UTSW 1 10,073,572 (GRCm39) missense probably benign 0.10
R2909:Ppp1r42 UTSW 1 10,073,637 (GRCm39) intron probably benign
R4828:Ppp1r42 UTSW 1 10,069,636 (GRCm39) missense probably benign
R4863:Ppp1r42 UTSW 1 10,073,611 (GRCm39) intron probably benign
R5384:Ppp1r42 UTSW 1 10,069,660 (GRCm39) missense probably damaging 1.00
R5394:Ppp1r42 UTSW 1 10,069,630 (GRCm39) missense probably damaging 1.00
R6725:Ppp1r42 UTSW 1 10,069,732 (GRCm39) missense probably damaging 1.00
R7343:Ppp1r42 UTSW 1 10,039,082 (GRCm39) missense probably benign
R7556:Ppp1r42 UTSW 1 10,065,408 (GRCm39) missense probably benign 0.01
R8722:Ppp1r42 UTSW 1 10,055,894 (GRCm39) missense probably benign 0.15
R9612:Ppp1r42 UTSW 1 10,039,067 (GRCm39) missense possibly damaging 0.79
R9668:Ppp1r42 UTSW 1 10,073,563 (GRCm39) missense probably benign 0.42
R9752:Ppp1r42 UTSW 1 10,073,674 (GRCm39) intron probably benign
Z1177:Ppp1r42 UTSW 1 10,069,652 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCAACTCTGCTCACTCAG -3'
(R):5'- GGGTGCTGTAGAAATCATTAACCAC -3'

Sequencing Primer
(F):5'- AGAGCAGTCCGTGTTCTAAC -3'
(R):5'- TTAACCACCTTGAAAAGCAGTTGC -3'
Posted On 2022-06-15