Incidental Mutation 'R2389:Cnksr1'
ID 247731
Institutional Source Beutler Lab
Gene Symbol Cnksr1
Ensembl Gene ENSMUSG00000028841
Gene Name connector enhancer of kinase suppressor of Ras 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R2389 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133955352-133965710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133961057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 235 (I235V)
Ref Sequence ENSEMBL: ENSMUSP00000030645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030645]
AlphaFold A2A9K7
Predicted Effect probably benign
Transcript: ENSMUST00000030645
AA Change: I235V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
AA Change: I235V

DomainStartEndE-ValueType
SAM 4 70 1.44e-9 SMART
Pfam:CRIC_ras_sig 78 162 4.2e-26 PFAM
PDZ 206 276 1.48e-3 SMART
low complexity region 285 303 N/A INTRINSIC
low complexity region 333 347 N/A INTRINSIC
PH 388 488 4.38e-19 SMART
coiled coil region 596 624 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146283
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,467,132 (GRCm39) V24A probably benign Het
Adrm1 C A 2: 179,816,116 (GRCm39) probably benign Het
Cdk13 T A 13: 17,926,361 (GRCm39) H813L probably damaging Het
Cdkal1 T A 13: 29,736,219 (GRCm39) H300L probably damaging Het
Ctnnd1 T A 2: 84,454,615 (GRCm39) Q11L probably null Het
Dync2h1 T C 9: 7,122,618 (GRCm39) I2113V possibly damaging Het
Eng T C 2: 32,547,684 (GRCm39) probably null Het
Gria2 A G 3: 80,609,932 (GRCm39) W626R probably damaging Het
Kctd1 A G 18: 15,195,268 (GRCm39) S452P possibly damaging Het
Kdm4c T C 4: 74,252,107 (GRCm39) probably null Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Nat8f7 C A 6: 85,684,476 (GRCm39) M121I probably benign Het
Ppfibp1 A T 6: 146,923,669 (GRCm39) H667L probably damaging Het
Pramel31 T A 4: 144,089,983 (GRCm39) L341H probably damaging Het
Prss12 A G 3: 123,280,670 (GRCm39) N452D possibly damaging Het
Rab17 T C 1: 90,891,926 (GRCm39) T33A probably benign Het
Rxfp3 A G 15: 11,036,770 (GRCm39) C201R probably damaging Het
Spag17 A G 3: 100,014,153 (GRCm39) Y2142C probably benign Het
Stx6 T C 1: 155,073,164 (GRCm39) V225A possibly damaging Het
Ugt2b5 G A 5: 87,275,541 (GRCm39) P437S probably damaging Het
Usp13 A G 3: 32,959,613 (GRCm39) K568R probably benign Het
Zan A G 5: 137,474,642 (GRCm39) probably null Het
Zbtb8b T C 4: 129,327,066 (GRCm39) E33G probably benign Het
Zcchc17 T A 4: 130,220,997 (GRCm39) K185* probably null Het
Other mutations in Cnksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Cnksr1 APN 4 133,962,012 (GRCm39) missense probably benign 0.39
IGL01311:Cnksr1 APN 4 133,957,777 (GRCm39) missense probably damaging 1.00
IGL01872:Cnksr1 APN 4 133,956,275 (GRCm39) missense probably benign 0.13
IGL02082:Cnksr1 APN 4 133,963,363 (GRCm39) missense probably damaging 1.00
IGL02405:Cnksr1 APN 4 133,963,592 (GRCm39) missense possibly damaging 0.88
IGL02669:Cnksr1 APN 4 133,957,774 (GRCm39) missense probably damaging 0.98
IGL02948:Cnksr1 APN 4 133,962,417 (GRCm39) splice site probably null
IGL03037:Cnksr1 APN 4 133,962,417 (GRCm39) splice site probably null
IGL03381:Cnksr1 APN 4 133,959,482 (GRCm39) missense probably damaging 0.99
R0855:Cnksr1 UTSW 4 133,960,377 (GRCm39) splice site probably benign
R1958:Cnksr1 UTSW 4 133,955,727 (GRCm39) missense probably benign 0.02
R2049:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2140:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2141:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2142:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2495:Cnksr1 UTSW 4 133,959,473 (GRCm39) missense probably benign 0.00
R4596:Cnksr1 UTSW 4 133,961,189 (GRCm39) missense possibly damaging 0.90
R4668:Cnksr1 UTSW 4 133,960,282 (GRCm39) intron probably benign
R4896:Cnksr1 UTSW 4 133,956,986 (GRCm39) splice site probably null
R5367:Cnksr1 UTSW 4 133,957,525 (GRCm39) missense possibly damaging 0.94
R5673:Cnksr1 UTSW 4 133,962,499 (GRCm39) missense probably damaging 1.00
R5844:Cnksr1 UTSW 4 133,955,575 (GRCm39) unclassified probably benign
R6153:Cnksr1 UTSW 4 133,961,204 (GRCm39) missense probably damaging 1.00
R7207:Cnksr1 UTSW 4 133,962,434 (GRCm39) missense possibly damaging 0.75
R7261:Cnksr1 UTSW 4 133,963,084 (GRCm39) splice site probably null
R7978:Cnksr1 UTSW 4 133,963,342 (GRCm39) missense probably damaging 1.00
R8310:Cnksr1 UTSW 4 133,956,730 (GRCm39) missense probably damaging 1.00
R8855:Cnksr1 UTSW 4 133,959,494 (GRCm39) missense probably damaging 1.00
R9019:Cnksr1 UTSW 4 133,959,365 (GRCm39) missense probably damaging 1.00
R9028:Cnksr1 UTSW 4 133,960,608 (GRCm39) missense possibly damaging 0.48
R9102:Cnksr1 UTSW 4 133,956,323 (GRCm39) missense probably damaging 1.00
R9310:Cnksr1 UTSW 4 133,956,330 (GRCm39) missense probably damaging 1.00
R9344:Cnksr1 UTSW 4 133,963,508 (GRCm39) missense probably damaging 1.00
R9435:Cnksr1 UTSW 4 133,961,885 (GRCm39) missense possibly damaging 0.94
Z1176:Cnksr1 UTSW 4 133,959,446 (GRCm39) missense probably damaging 1.00
Z1177:Cnksr1 UTSW 4 133,959,461 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCGAGTTTAACCGAGATCCC -3'
(R):5'- GGGTCTAGAAATTCACACCACC -3'

Sequencing Primer
(F):5'- CTGTGTTGGCTCACGTCACG -3'
(R):5'- CAGCAACTGCCTGCACTTTG -3'
Posted On 2014-11-11