Incidental Mutation 'R5619:Prkg2'
ID 439702
Institutional Source Beutler Lab
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms cGK-II, Prkgr2
MMRRC Submission 043278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R5619 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99077632-99185042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99136156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 301 (C301F)
Ref Sequence ENSEMBL: ENSMUSP00000031277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031277
AA Change: C301F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: C301F

DomainStartEndE-ValueType
coiled coil region 19 85 N/A INTRINSIC
cNMP 168 284 2.82e-19 SMART
cNMP 286 409 3.02e-28 SMART
S_TKc 424 682 9.46e-75 SMART
S_TK_X 683 733 9.83e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161490
AA Change: C301F

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: C301F

DomainStartEndE-ValueType
coiled coil region 19 85 N/A INTRINSIC
cNMP 168 284 2.82e-19 SMART
cNMP 286 409 3.02e-28 SMART
S_TKc 453 711 1.19e-89 SMART
S_TK_X 712 762 9.83e-4 SMART
Meta Mutation Damage Score 0.1429 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein plays a role in the regulation of fluid balance in the intestine. A similar protein in mouse is thought to regulate differentiation and proliferation of cells in the colon. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice exhibit dwarfism, with abnormal skull morphology and short limbs and vertebrae. Defects in axial organization of the growth plates was evident as mice aged. Digestive secretion in response to enterotoxin was reduced. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adgre1 T G 17: 57,727,437 (GRCm39) L456V probably benign Het
Adgrv1 C T 13: 81,620,619 (GRCm39) G3943R probably damaging Het
Akap9 A G 5: 4,004,760 (GRCm39) probably benign Het
Atp1a2 T A 1: 172,106,948 (GRCm39) I791F probably damaging Het
BC004004 C G 17: 29,501,703 (GRCm39) P81A probably damaging Het
Brca2 C A 5: 150,480,579 (GRCm39) T2755K probably damaging Het
Cacna1c T C 6: 118,719,322 (GRCm39) D215G probably damaging Het
Ccdc142 C T 6: 83,080,603 (GRCm39) S445F probably benign Het
Comt T C 16: 18,230,469 (GRCm39) E80G probably damaging Het
Coq7 T C 7: 118,126,709 (GRCm39) probably benign Het
Coro7 C A 16: 4,494,799 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,228 (GRCm39) S239P probably damaging Het
Dnah5 T C 15: 28,302,581 (GRCm39) S1613P probably damaging Het
Dync2h1 T C 9: 7,118,885 (GRCm39) I2193M probably benign Het
Eipr1 A G 12: 28,917,078 (GRCm39) Y382C probably damaging Het
Fastkd2 T A 1: 63,778,469 (GRCm39) H447Q probably benign Het
Galk2 A T 2: 125,817,317 (GRCm39) R369* probably null Het
Gli2 G A 1: 118,764,485 (GRCm39) A1222V probably benign Het
Golim4 T A 3: 75,813,802 (GRCm39) K141* probably null Het
Gtpbp3 G T 8: 71,943,692 (GRCm39) probably benign Het
Gzmd C T 14: 56,367,224 (GRCm39) A223T probably benign Het
Igf2r T C 17: 12,958,221 (GRCm39) R151G probably damaging Het
Itga8 T A 2: 12,270,139 (GRCm39) R116W probably damaging Het
Klhdc1 T G 12: 69,304,919 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,602 (GRCm39) Y198H probably benign Het
Klhl29 A T 12: 5,190,587 (GRCm39) M136K probably benign Het
Lipf A T 19: 33,944,292 (GRCm39) Y167F possibly damaging Het
Lpar1 T C 4: 58,487,155 (GRCm39) K39E possibly damaging Het
Mbtd1 T A 11: 93,820,705 (GRCm39) probably null Het
Myo1a T A 10: 127,554,413 (GRCm39) N794K probably benign Het
Nmrk1 T C 19: 18,622,452 (GRCm39) L177P possibly damaging Het
Noxa1 C T 2: 24,975,988 (GRCm39) E401K probably damaging Het
Or10g9b T A 9: 39,918,039 (GRCm39) M69L probably benign Het
Or4f53 A T 2: 111,087,856 (GRCm39) Y132F probably damaging Het
Ostm1 T A 10: 42,555,325 (GRCm39) C116S probably damaging Het
Pcdhga7 T C 18: 37,848,800 (GRCm39) I269T probably benign Het
Pfkfb3 T C 2: 11,489,470 (GRCm39) K276R probably benign Het
Pfkp A T 13: 6,648,765 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,153,270 (GRCm39) D142G probably damaging Het
Pkp3 T C 7: 140,668,419 (GRCm39) L556P probably damaging Het
Plb1 C A 5: 32,490,841 (GRCm39) T1046N probably damaging Het
Plxnb2 T C 15: 89,047,012 (GRCm39) S770G possibly damaging Het
Polk A T 13: 96,620,064 (GRCm39) I733N probably damaging Het
Potegl T C 2: 23,147,017 (GRCm39) probably null Het
Rabgap1l T C 1: 160,066,142 (GRCm39) T189A probably benign Het
Raph1 T C 1: 60,529,414 (GRCm39) probably benign Het
Rbm22 T A 18: 60,693,899 (GRCm39) M1K probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf186 T A 4: 138,694,715 (GRCm39) I85N probably benign Het
Ryr2 C A 13: 11,723,088 (GRCm39) R2517L probably damaging Het
Sec63 T A 10: 42,665,378 (GRCm39) Y103N probably damaging Het
Serpinb3a G A 1: 106,974,838 (GRCm39) P232S probably damaging Het
Slco6d1 C A 1: 98,423,947 (GRCm39) T533K probably damaging Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Spata46 A T 1: 170,136,490 (GRCm39) I14F probably damaging Het
Speer4b T C 5: 27,703,815 (GRCm39) H106R possibly damaging Het
Spint4 T C 2: 164,542,761 (GRCm39) L118P probably benign Het
Sptbn5 A G 2: 119,880,613 (GRCm39) noncoding transcript Het
Tgfbr3 A T 5: 107,288,380 (GRCm39) I427N probably benign Het
Thbs2 C A 17: 14,901,506 (GRCm39) C491F probably damaging Het
Tmem232 T A 17: 65,793,506 (GRCm39) E64D probably benign Het
Tnpo3 A T 6: 29,565,197 (GRCm39) C585* probably null Het
Ttc13 A T 8: 125,406,683 (GRCm39) probably benign Het
Tuba8 C T 6: 121,202,854 (GRCm39) A389V probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp25 A G 16: 76,830,833 (GRCm39) I30V probably benign Het
Vmn2r31 T A 7: 7,387,529 (GRCm39) K681* probably null Het
Vmn2r88 A G 14: 51,651,367 (GRCm39) E235G probably damaging Het
Vps29 T A 5: 122,492,511 (GRCm39) probably benign Het
Wdr1 A C 5: 38,686,879 (GRCm39) V568G possibly damaging Het
Zfp64 T G 2: 168,741,734 (GRCm39) Q398P probably damaging Het
Zfp64 G T 2: 168,741,735 (GRCm39) Q398K probably damaging Het
Zfp839 T C 12: 110,830,470 (GRCm39) Y398H probably damaging Het
Other mutations in Prkg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Prkg2 APN 5 99,172,400 (GRCm39) missense probably benign 0.00
IGL01063:Prkg2 APN 5 99,117,795 (GRCm39) critical splice donor site probably null
IGL02060:Prkg2 APN 5 99,172,374 (GRCm39) missense probably benign 0.32
IGL02666:Prkg2 APN 5 99,145,378 (GRCm39) splice site probably benign
IGL02992:Prkg2 APN 5 99,172,365 (GRCm39) missense probably benign
IGL03040:Prkg2 APN 5 99,120,966 (GRCm39) critical splice donor site probably null
devito UTSW 5 99,114,369 (GRCm39) critical splice donor site probably null
Goldwyn UTSW 5 99,090,067 (GRCm39) missense possibly damaging 0.86
kilmer UTSW 5 99,095,333 (GRCm39) missense probably damaging 1.00
Pulp UTSW 5 99,124,321 (GRCm39) missense possibly damaging 0.92
travolta UTSW 5 99,117,839 (GRCm39) missense probably damaging 1.00
P0005:Prkg2 UTSW 5 99,117,806 (GRCm39) missense probably damaging 1.00
R0044:Prkg2 UTSW 5 99,120,989 (GRCm39) missense probably damaging 0.98
R0044:Prkg2 UTSW 5 99,120,989 (GRCm39) missense probably damaging 0.98
R0115:Prkg2 UTSW 5 99,142,514 (GRCm39) splice site probably null
R0403:Prkg2 UTSW 5 99,142,504 (GRCm39) missense possibly damaging 0.95
R0452:Prkg2 UTSW 5 99,145,379 (GRCm39) splice site probably benign
R0481:Prkg2 UTSW 5 99,142,514 (GRCm39) splice site probably null
R1194:Prkg2 UTSW 5 99,119,785 (GRCm39) missense probably benign 0.00
R1534:Prkg2 UTSW 5 99,142,420 (GRCm39) missense probably damaging 1.00
R1861:Prkg2 UTSW 5 99,095,275 (GRCm39) missense probably damaging 1.00
R2010:Prkg2 UTSW 5 99,172,664 (GRCm39) missense probably benign
R2031:Prkg2 UTSW 5 99,172,310 (GRCm39) missense possibly damaging 0.85
R2176:Prkg2 UTSW 5 99,114,368 (GRCm39) splice site probably benign
R3607:Prkg2 UTSW 5 99,095,236 (GRCm39) missense probably damaging 1.00
R3958:Prkg2 UTSW 5 99,145,354 (GRCm39) missense possibly damaging 0.84
R3960:Prkg2 UTSW 5 99,145,354 (GRCm39) missense possibly damaging 0.84
R4012:Prkg2 UTSW 5 99,127,674 (GRCm39) missense possibly damaging 0.93
R4794:Prkg2 UTSW 5 99,114,492 (GRCm39) missense probably damaging 1.00
R4840:Prkg2 UTSW 5 99,129,002 (GRCm39) missense probably benign 0.03
R4867:Prkg2 UTSW 5 99,172,568 (GRCm39) missense probably benign 0.21
R5182:Prkg2 UTSW 5 99,172,568 (GRCm39) missense probably benign 0.21
R5226:Prkg2 UTSW 5 99,124,321 (GRCm39) missense possibly damaging 0.92
R5274:Prkg2 UTSW 5 99,117,850 (GRCm39) missense probably damaging 1.00
R5416:Prkg2 UTSW 5 99,091,326 (GRCm39) missense probably benign 0.05
R5531:Prkg2 UTSW 5 99,115,593 (GRCm39) missense probably damaging 1.00
R6264:Prkg2 UTSW 5 99,082,223 (GRCm39) missense probably benign 0.22
R6925:Prkg2 UTSW 5 99,114,369 (GRCm39) critical splice donor site probably null
R7971:Prkg2 UTSW 5 99,079,873 (GRCm39) missense probably damaging 1.00
R8210:Prkg2 UTSW 5 99,114,393 (GRCm39) missense probably damaging 1.00
R8788:Prkg2 UTSW 5 99,117,839 (GRCm39) missense probably damaging 1.00
R8824:Prkg2 UTSW 5 99,090,067 (GRCm39) missense possibly damaging 0.86
R8825:Prkg2 UTSW 5 99,090,043 (GRCm39) missense probably benign 0.02
R8932:Prkg2 UTSW 5 99,095,299 (GRCm39) missense possibly damaging 0.80
R8950:Prkg2 UTSW 5 99,119,815 (GRCm39) missense possibly damaging 0.54
R9026:Prkg2 UTSW 5 99,114,386 (GRCm39) missense probably benign
R9210:Prkg2 UTSW 5 99,095,333 (GRCm39) missense probably damaging 1.00
R9363:Prkg2 UTSW 5 99,172,257 (GRCm39) missense probably benign 0.30
R9627:Prkg2 UTSW 5 99,079,869 (GRCm39) makesense probably null
Z1088:Prkg2 UTSW 5 99,172,663 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGTGTGAGCTGCCCTAAAAC -3'
(R):5'- GGGATACATGAACCATTTTCCATTG -3'

Sequencing Primer
(F):5'- TCACAACTGGACATGGCT -3'
(R):5'- AGCCTGGACTACATTGTGAGACTC -3'
Posted On 2016-11-08