Incidental Mutation 'R5174:Nrk'
ID 399077
Institutional Source Beutler Lab
Gene Symbol Nrk
Ensembl Gene ENSMUSG00000052854
Gene Name Nik related kinase
Synonyms Nesk
MMRRC Submission 042754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R5174 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 137815179-137911281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 137887528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 1018 (A1018G)
Ref Sequence ENSEMBL: ENSMUSP00000108675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064937] [ENSMUST00000113052] [ENSMUST00000131829]
AlphaFold Q9R0G8
Predicted Effect probably benign
Transcript: ENSMUST00000064937
AA Change: A1018G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063397
Gene: ENSMUSG00000052854
AA Change: A1018G

DomainStartEndE-ValueType
S_TKc 25 313 1.28e-80 SMART
low complexity region 395 410 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 535 565 N/A INTRINSIC
coiled coil region 716 750 N/A INTRINSIC
low complexity region 806 814 N/A INTRINSIC
low complexity region 832 840 N/A INTRINSIC
low complexity region 956 979 N/A INTRINSIC
low complexity region 1014 1060 N/A INTRINSIC
CNH 1133 1431 8.68e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113052
AA Change: A1018G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108675
Gene: ENSMUSG00000052854
AA Change: A1018G

DomainStartEndE-ValueType
S_TKc 25 313 1.28e-80 SMART
low complexity region 395 410 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 535 565 N/A INTRINSIC
coiled coil region 716 750 N/A INTRINSIC
low complexity region 806 814 N/A INTRINSIC
low complexity region 832 840 N/A INTRINSIC
low complexity region 956 979 N/A INTRINSIC
low complexity region 1014 1060 N/A INTRINSIC
CNH 1133 1431 8.68e-20 SMART
Predicted Effect unknown
Transcript: ENSMUST00000131829
AA Change: A1018G
SMART Domains Protein: ENSMUSP00000115962
Gene: ENSMUSG00000052854
AA Change: A1018G

DomainStartEndE-ValueType
S_TKc 25 313 1.28e-80 SMART
low complexity region 395 410 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 535 565 N/A INTRINSIC
coiled coil region 716 750 N/A INTRINSIC
low complexity region 806 814 N/A INTRINSIC
low complexity region 832 840 N/A INTRINSIC
low complexity region 956 979 N/A INTRINSIC
low complexity region 1014 1060 N/A INTRINSIC
Pfam:CNH 1142 1312 3.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155201
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice nullizygous for a knock-out allele exhibit partial lethality during delivery associated with enlarged placental and spongiotrophoblast layer and enduce dystocia in birthing dams. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,728,209 (GRCm39) S632P probably damaging Het
Arhgef16 G A 4: 154,366,504 (GRCm39) R451W probably damaging Het
Asxl3 A T 18: 22,656,172 (GRCm39) D1394V probably benign Het
Atp2a3 T A 11: 72,871,041 (GRCm39) I545N probably damaging Het
Cadps2 T A 6: 23,287,742 (GRCm39) Y1181F probably damaging Het
Camkmt C A 17: 85,759,665 (GRCm39) F268L probably benign Het
Casp14 C T 10: 78,551,225 (GRCm39) G20D possibly damaging Het
Celf1 T C 2: 90,831,353 (GRCm39) C61R probably damaging Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Cers3 A T 7: 66,434,616 (GRCm39) K203M probably damaging Het
Clip4 T C 17: 72,117,957 (GRCm39) F334S probably damaging Het
Cyp2b13 T A 7: 25,788,118 (GRCm39) D415E possibly damaging Het
Decr2 A T 17: 26,306,443 (GRCm39) probably null Het
Dmxl2 T C 9: 54,352,768 (GRCm39) probably null Het
Dnah7b G A 1: 46,282,509 (GRCm39) A2881T possibly damaging Het
Dnaja3 A G 16: 4,502,161 (GRCm39) H55R probably benign Het
Dnajc11 T C 4: 152,064,441 (GRCm39) F531L probably damaging Het
Efcab6 A G 15: 83,938,687 (GRCm39) F10L probably benign Het
Epm2aip1 T C 9: 111,102,455 (GRCm39) F476S probably damaging Het
Fat3 T C 9: 15,910,866 (GRCm39) N1712S probably damaging Het
Flnc T C 6: 29,448,893 (GRCm39) V1343A possibly damaging Het
Fsip2 C T 2: 82,811,085 (GRCm39) P2468L probably benign Het
Gm5798 A G 14: 41,070,620 (GRCm39) H10R possibly damaging Het
Gm7168 A G 17: 14,168,717 (GRCm39) Y28C probably damaging Het
Gtpbp6 G A 5: 110,255,983 (GRCm39) R19C possibly damaging Het
Gucy2e A G 11: 69,127,392 (GRCm39) F27S probably benign Het
Inhca C T 9: 103,159,755 (GRCm39) probably null Het
Krba1 A G 6: 48,389,229 (GRCm39) E548G probably damaging Het
Ltbr A G 6: 125,286,500 (GRCm39) S229P probably benign Het
Mgat5b A T 11: 116,868,541 (GRCm39) Y488F probably benign Het
Mia3 T A 1: 183,112,348 (GRCm39) K475* probably null Het
Mrpl53 C T 6: 83,086,638 (GRCm39) T114M possibly damaging Het
Mrps35 T C 6: 146,961,709 (GRCm39) Y195H possibly damaging Het
Muc4 A T 16: 32,570,556 (GRCm39) I539F possibly damaging Het
Nedd1 T A 10: 92,547,074 (GRCm39) T150S possibly damaging Het
Nox4 T G 7: 86,972,974 (GRCm39) I327S probably benign Het
Or4c102 T A 2: 88,422,992 (GRCm39) N281K probably damaging Het
Or4d5 T C 9: 40,012,043 (GRCm39) T248A possibly damaging Het
Or52ae7 T A 7: 103,119,610 (GRCm39) F121L probably benign Het
Or5w19 T A 2: 87,698,755 (GRCm39) V140E possibly damaging Het
Pdzd2 G A 15: 12,372,600 (GRCm39) P2512S probably benign Het
Ptgis T A 2: 167,045,390 (GRCm39) probably null Het
Rnf170 T A 8: 26,619,196 (GRCm39) M140K probably benign Het
Scaf4 A T 16: 90,044,062 (GRCm39) I637K unknown Het
Sdccag8 A T 1: 176,672,916 (GRCm39) T270S probably damaging Het
Sec24d T C 3: 123,158,575 (GRCm39) C1022R probably damaging Het
Sec63 T C 10: 42,705,077 (GRCm39) probably benign Het
Serpinb3d C G 1: 107,006,228 (GRCm39) E287Q possibly damaging Het
Silc1 A T 12: 27,192,027 (GRCm39) noncoding transcript Het
Smarcd2 A G 11: 106,157,871 (GRCm39) probably benign Het
Sox15 A G 11: 69,546,545 (GRCm39) Y116C probably damaging Het
Spag16 T C 1: 70,532,955 (GRCm39) S545P probably damaging Het
Ssc5d C A 7: 4,930,970 (GRCm39) T184N possibly damaging Het
St6galnac2 A T 11: 116,572,773 (GRCm39) F228I probably damaging Het
Syne1 T C 10: 4,991,490 (GRCm39) N8408S probably damaging Het
Trank1 A C 9: 111,194,627 (GRCm39) T884P probably benign Het
Ubr3 T A 2: 69,839,506 (GRCm39) L1540H probably damaging Het
Ugt2b37 C A 5: 87,399,739 (GRCm39) M256I probably benign Het
Vmn2r69 G A 7: 85,064,739 (GRCm39) T49I possibly damaging Het
Vmn2r72 T A 7: 85,387,048 (GRCm39) I839L probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Zfp319 A T 8: 96,054,797 (GRCm39) probably null Het
Zfp592 T C 7: 80,688,073 (GRCm39) S1000P probably damaging Het
Zfp938 T C 10: 82,061,838 (GRCm39) N261D possibly damaging Het
Zfp957 A G 14: 79,450,828 (GRCm39) S324P unknown Het
Zswim6 G T 13: 107,863,216 (GRCm39) noncoding transcript Het
Other mutations in Nrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Nrk APN X 137,873,670 (GRCm39) missense probably damaging 1.00
IGL02024:Nrk APN X 137,896,678 (GRCm39) missense probably damaging 1.00
IGL02043:Nrk APN X 137,889,544 (GRCm39) missense possibly damaging 0.90
IGL02395:Nrk APN X 137,876,935 (GRCm39) missense probably damaging 0.99
IGL02976:Nrk APN X 137,892,817 (GRCm39) missense probably benign 0.18
PIT1430001:Nrk UTSW X 137,879,463 (GRCm39) missense probably damaging 1.00
R1883:Nrk UTSW X 137,907,922 (GRCm39) missense probably damaging 0.98
R2886:Nrk UTSW X 137,876,197 (GRCm39) missense probably damaging 1.00
R7798:Nrk UTSW X 137,883,426 (GRCm39) small deletion probably benign
X0065:Nrk UTSW X 137,860,434 (GRCm39) nonsense probably null
Z1177:Nrk UTSW X 137,873,557 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- CATGTCTGTATGCAACCAAAAGC -3'
(R):5'- TTGGAAGTACGTAGGAACCATCAC -3'

Sequencing Primer
(F):5'- AACATTCCTGAACATGGTGTGTG -3'
(R):5'- CGTAGGAACCATCACATTGTATG -3'
Posted On 2016-07-06