Incidental Mutation 'R8932:Prkg2'
ID 690216
Institutional Source Beutler Lab
Gene Symbol Prkg2
Ensembl Gene ENSMUSG00000029334
Gene Name protein kinase, cGMP-dependent, type II
Synonyms cGK-II, Prkgr2
MMRRC Submission 068776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R8932 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 99077632-99185042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99095299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 624 (N624S)
Ref Sequence ENSEMBL: ENSMUSP00000124963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031277] [ENSMUST00000161490] [ENSMUST00000162147] [ENSMUST00000162619]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031277
AA Change: N595S

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: N595S

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: N624S

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: N624S

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
Predicted Effect probably benign
Transcript: ENSMUST00000162147
SMART Domains Protein: ENSMUSP00000143708
Gene: ENSMUSG00000029334

DomainStartEndE-ValueType
Blast:S_TKc 1 56 3e-32 BLAST
S_TK_X 57 107 4.7e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162619
SMART Domains Protein: ENSMUSP00000142743
Gene: ENSMUSG00000029334

DomainStartEndE-ValueType
Blast:S_TKc 1 43 8e-23 BLAST
S_TK_X 44 94 4.6e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 G T 8: 44,105,192 (GRCm39) T151K probably benign Het
Adnp2 C T 18: 80,185,893 (GRCm39) G27S probably damaging Het
Ank3 A G 10: 69,660,292 (GRCm39) M265V probably benign Het
Aoc1l1 G A 6: 48,952,428 (GRCm39) E118K probably damaging Het
Apoe T C 7: 19,430,597 (GRCm39) D215G possibly damaging Het
Atp5f1b A G 10: 127,924,850 (GRCm39) I438V probably benign Het
Bckdha A G 7: 25,330,436 (GRCm39) S387P probably damaging Het
Camkk1 T C 11: 72,924,734 (GRCm39) F316L probably damaging Het
Carmil1 A G 13: 24,197,179 (GRCm39) Y158H Het
Ccdc148 T C 2: 58,894,054 (GRCm39) R29G probably benign Het
Ccdc39 A G 3: 33,884,274 (GRCm39) V356A probably benign Het
Cdan1 G A 2: 120,561,568 (GRCm39) Q66* probably null Het
Ckap4 A T 10: 84,364,290 (GRCm39) S258T probably benign Het
Col5a2 T C 1: 45,419,306 (GRCm39) D1258G probably benign Het
Col6a1 G A 10: 76,552,593 (GRCm39) P431L unknown Het
Cplane1 A G 15: 8,223,859 (GRCm39) Y874C probably damaging Het
Csn1s2a A G 5: 87,933,164 (GRCm39) I138V probably benign Het
Cyp19a1 C T 9: 54,083,861 (GRCm39) G176D probably benign Het
Dnah10 A G 5: 124,878,015 (GRCm39) E2700G possibly damaging Het
Eif3l T A 15: 78,960,006 (GRCm39) Y23* probably null Het
Fam72a A G 1: 131,456,502 (GRCm39) K22E probably benign Het
Golim4 A G 3: 75,805,351 (GRCm39) V258A probably benign Het
Gtf2ird2 C T 5: 134,237,739 (GRCm39) A272V probably benign Het
Hpse T C 5: 100,846,872 (GRCm39) T186A possibly damaging Het
Ift140 A T 17: 25,305,862 (GRCm39) Q816H probably benign Het
Iqca1 A T 1: 90,067,750 (GRCm39) I167N probably damaging Het
Iqgap1 A T 7: 80,401,141 (GRCm39) F515L probably benign Het
Itgb4 G A 11: 115,879,295 (GRCm39) R558H probably benign Het
Kcna10 G A 3: 107,101,419 (GRCm39) D17N probably damaging Het
Kcnj16 A G 11: 110,915,829 (GRCm39) I164V probably damaging Het
Lrrc55 G T 2: 85,026,615 (GRCm39) N136K probably damaging Het
Mdm4 A T 1: 132,940,382 (GRCm39) M50K probably benign Het
Mfge8 A G 7: 78,786,530 (GRCm39) S290P probably damaging Het
Mindy4 G A 6: 55,201,115 (GRCm39) D267N probably benign Het
Mllt10 T A 2: 18,128,617 (GRCm39) S199R probably benign Het
Mms22l T C 4: 24,533,029 (GRCm39) S436P probably damaging Het
Mpped2 A G 2: 106,697,395 (GRCm39) N290S possibly damaging Het
Mrgpra2a A G 7: 47,076,445 (GRCm39) L271P probably benign Het
Myrf T A 19: 10,200,931 (GRCm39) E247D probably benign Het
Ndrg3 A G 2: 156,782,299 (GRCm39) I189T possibly damaging Het
Nenf C T 1: 191,050,148 (GRCm39) E48K probably benign Het
Nlgn2 T A 11: 69,718,994 (GRCm39) N232Y probably damaging Het
Oog2 G T 4: 143,920,685 (GRCm39) M39I probably benign Het
Or9r7 A T 10: 129,962,631 (GRCm39) N98K probably benign Het
Osbpl3 A T 6: 50,304,371 (GRCm39) N461K probably benign Het
P4ha1 A G 10: 59,175,130 (GRCm39) D30G possibly damaging Het
Pappa2 A T 1: 158,590,762 (GRCm39) C1631S probably damaging Het
Pigk A G 3: 152,445,871 (GRCm39) M161V possibly damaging Het
Prdm1 G T 10: 44,317,335 (GRCm39) S496Y probably damaging Het
Rgs6 A G 12: 83,112,733 (GRCm39) D181G probably damaging Het
Sbf2 A G 7: 110,040,155 (GRCm39) probably null Het
Sbno2 A C 10: 79,898,042 (GRCm39) L728W probably damaging Het
Selenbp2 A T 3: 94,609,793 (GRCm39) I310F probably damaging Het
Shank3 T A 15: 89,432,986 (GRCm39) W1244R possibly damaging Het
Slc34a1 A C 13: 24,004,184 (GRCm39) I395L probably benign Het
Slf1 A T 13: 77,194,693 (GRCm39) D877E probably damaging Het
Smtn T C 11: 3,472,908 (GRCm39) S255G probably benign Het
Tbx2 T A 11: 85,725,533 (GRCm39) D161E probably damaging Het
Tex14 C A 11: 87,324,675 (GRCm39) L26M possibly damaging Het
Traf7 A G 17: 24,731,286 (GRCm39) F249S probably damaging Het
Trpm6 A G 19: 18,815,366 (GRCm39) K1151E possibly damaging Het
Ttc7b A G 12: 100,268,022 (GRCm39) V773A probably benign Het
Ttn G A 2: 76,747,912 (GRCm39) T4379I probably benign Het
Ttn G A 2: 76,602,854 (GRCm39) T18456I probably damaging Het
Ttn G C 2: 76,709,171 (GRCm39) L8703V unknown Het
Ubb T A 11: 62,442,979 (GRCm39) I3N probably damaging Het
Vmn1r209 A T 13: 22,990,343 (GRCm39) W116R probably damaging Het
Vmn1r75 A G 7: 11,614,838 (GRCm39) D190G probably damaging Het
Wdr12 T A 1: 60,130,202 (GRCm39) M70L probably benign Het
Wdr48 C A 9: 119,740,142 (GRCm39) T317K probably damaging Het
Zbtb5 A G 4: 44,993,962 (GRCm39) V474A probably benign Het
Zfp128 C T 7: 12,625,113 (GRCm39) R494C possibly 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
R5619:Prkg2 UTSW 5 99,136,156 (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
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'- TCCTAGCCCTGTGTTTGAAG -3'
(R):5'- GGAAATTTTGGACTCGTATGAAAGC -3'

Sequencing Primer
(F):5'- CTAGCCCTGTGTTTGAAGCAACATG -3'
(R):5'- AGGTTGACTTTGGATTCGC -3'
Posted On 2021-11-19