Incidental Mutation 'R9310:Cnksr1'
ID 705454
Institutional Source Beutler Lab
Gene Symbol Cnksr1
Ensembl Gene ENSMUSG00000028841
Gene Name connector enhancer of kinase suppressor of Ras 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R9310 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 133955352-133965710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133956330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 585 (S585G)
Ref Sequence ENSEMBL: ENSMUSP00000030645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030645] [ENSMUST00000055892] [ENSMUST00000105878] [ENSMUST00000169381]
AlphaFold A2A9K7
Predicted Effect probably damaging
Transcript: ENSMUST00000030645
AA Change: S585G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
AA Change: S585G

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 probably benign
Transcript: ENSMUST00000055892
SMART Domains Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003

DomainStartEndE-ValueType
Pfam:Ion_trans 67 294 6.9e-34 PFAM
Pfam:PKD_channel 149 289 8.1e-8 PFAM
low complexity region 304 315 N/A INTRINSIC
coiled coil region 353 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105878
SMART Domains Protein: ENSMUSP00000101504
Gene: ENSMUSG00000048003

DomainStartEndE-ValueType
transmembrane domain 64 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169381
SMART Domains Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003

DomainStartEndE-ValueType
Pfam:Ion_trans 56 209 2.4e-11 PFAM
low complexity region 231 242 N/A INTRINSIC
coiled coil region 280 310 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,698,859 (GRCm39) I83V possibly damaging Het
Abcf1 G A 17: 36,272,621 (GRCm39) A288V probably null Het
Acer1 A T 17: 57,262,598 (GRCm39) V184D probably damaging Het
Apoh T C 11: 108,298,307 (GRCm39) probably null Het
Arid1a T C 4: 133,413,625 (GRCm39) Y959C unknown Het
Asb3 A T 11: 30,978,962 (GRCm39) H84L probably benign Het
Atxn1 A C 13: 45,721,494 (GRCm39) Y134D probably damaging Het
Btbd1 T C 7: 81,478,985 (GRCm39) Y52C probably damaging Het
Cabp2 A G 19: 4,136,464 (GRCm39) D170G probably damaging Het
Cacna1a C A 8: 85,263,046 (GRCm39) A407E probably damaging Het
Cacna2d4 T A 6: 119,248,914 (GRCm39) probably null Het
Cc2d2a T C 5: 43,852,488 (GRCm39) F404S probably damaging Het
Cdh20 T C 1: 104,875,061 (GRCm39) M281T probably damaging Het
Cfap54 A T 10: 92,798,177 (GRCm39) M1694K unknown Het
Chd6 G T 2: 160,881,181 (GRCm39) T261K probably damaging Het
Cntnap2 A T 6: 45,978,281 (GRCm39) Y312F probably damaging Het
Coa7 T A 4: 108,195,510 (GRCm39) Y146* probably null Het
Col28a1 T C 6: 8,175,414 (GRCm39) K145E unknown Het
Coq8b T A 7: 26,941,486 (GRCm39) I221N probably damaging Het
Cpd A T 11: 76,705,607 (GRCm39) L375* probably null Het
Dnah5 T C 15: 28,448,579 (GRCm39) F4214S probably damaging Het
Dnai3 C T 3: 145,802,895 (GRCm39) probably null Het
Dock2 A G 11: 34,244,139 (GRCm39) F1067S possibly damaging Het
Dpp6 G A 5: 27,836,439 (GRCm39) A310T probably damaging Het
Dpp6 C A 5: 27,930,642 (GRCm39) L825I probably benign Het
Efcab5 A G 11: 77,004,531 (GRCm39) V929A probably benign Het
Ephx3 C G 17: 32,408,290 (GRCm39) D45H probably benign Het
Espl1 G A 15: 102,205,285 (GRCm39) probably null Het
Firrm A G 1: 163,792,089 (GRCm39) C610R probably damaging Het
Gm4847 T C 1: 166,460,281 (GRCm39) R402G probably benign Het
Grid1 T C 14: 34,748,762 (GRCm39) L194S probably damaging Het
Heatr1 A T 13: 12,453,491 (GRCm39) H2122L probably benign Het
Il17b T A 18: 61,825,334 (GRCm39) C123* probably null Het
Il17rc T C 6: 113,451,210 (GRCm39) L181P probably damaging Het
Inpp5e T A 2: 26,287,940 (GRCm39) I619L probably benign Het
Itgax C A 7: 127,741,432 (GRCm39) Y814* probably null Het
Marcks C T 10: 37,012,487 (GRCm39) E183K unknown Het
Mefv T C 16: 3,533,252 (GRCm39) T340A probably benign Het
Mical2 A G 7: 111,950,920 (GRCm39) K958R probably benign Het
Mrtfb T A 16: 13,218,954 (GRCm39) D533E probably benign Het
Mtor T A 4: 148,553,834 (GRCm39) L811Q probably benign Het
Myh4 A G 11: 67,145,570 (GRCm39) Y1351C probably damaging Het
Neb T C 2: 52,153,708 (GRCm39) M2406V probably benign Het
Nebl T C 2: 17,353,678 (GRCm39) T214A probably benign Het
Nlrx1 A T 9: 44,164,705 (GRCm39) I913N probably damaging Het
Npr2 G T 4: 43,632,404 (GRCm39) A74S probably benign Het
Or4c115 T A 2: 88,928,257 (GRCm39) S5C probably damaging Het
Or6b6 C A 7: 106,570,678 (GRCm39) C291F probably damaging Het
Or6c88 T A 10: 129,406,687 (GRCm39) N54K probably benign Het
Pard3b G T 1: 62,205,528 (GRCm39) V441F probably damaging Het
Pcsk1 G A 13: 75,238,191 (GRCm39) R4K probably benign Het
Pisd G T 5: 32,894,784 (GRCm39) N337K possibly damaging Het
Pml T C 9: 58,156,945 (GRCm39) K10R probably benign Het
Prkci T C 3: 31,083,664 (GRCm39) W132R probably damaging Het
Prrc2a A T 17: 35,374,975 (GRCm39) M1225K probably benign Het
Prss23 T C 7: 89,159,142 (GRCm39) D309G probably damaging Het
Pxdn G A 12: 30,052,051 (GRCm39) G743S probably damaging Het
Rab29 A T 1: 131,799,860 (GRCm39) E145V probably damaging Het
Rasef C T 4: 73,653,956 (GRCm39) probably null Het
Rcbtb1 T G 14: 59,472,699 (GRCm39) I496S probably benign Het
Rcor1 T C 12: 111,066,393 (GRCm39) Y228H Het
Reep5 C T 18: 34,490,222 (GRCm39) V92I probably damaging Het
Rfx3 T C 19: 27,827,329 (GRCm39) S86G probably benign Het
Rptn T A 3: 93,304,384 (GRCm39) D572E probably benign Het
Rsl1 A T 13: 67,324,510 (GRCm39) probably null Het
Sbf2 T C 7: 109,914,292 (GRCm39) E1630G possibly damaging Het
Sele G A 1: 163,876,975 (GRCm39) V84I probably benign Het
Serpina1b T C 12: 103,698,756 (GRCm39) D31G probably benign Het
Serpina3c T C 12: 104,115,813 (GRCm39) I244V probably benign Het
Serpinb6e A G 13: 34,017,204 (GRCm39) V272A probably benign Het
Serpinb9b A G 13: 33,219,523 (GRCm39) D150G probably benign Het
Sgpp1 T C 12: 75,769,374 (GRCm39) T265A probably benign Het
Slc9a1 T A 4: 133,143,681 (GRCm39) M389K probably damaging Het
Slco3a1 A T 7: 74,204,236 (GRCm39) C35S probably damaging Het
Slco6d1 T A 1: 98,427,619 (GRCm39) V650E possibly damaging Het
Slit2 T C 5: 48,349,568 (GRCm39) V274A possibly damaging Het
Snd1 A G 6: 28,795,936 (GRCm39) E593G probably null Het
Spata2l C T 8: 123,960,873 (GRCm39) V139M probably benign Het
Suco T C 1: 161,684,427 (GRCm39) K231R probably damaging Het
Tenm3 C A 8: 49,008,935 (GRCm39) probably benign Het
Tg T C 15: 66,699,118 (GRCm39) S2415P possibly damaging Het
Traf6 C A 2: 101,527,072 (GRCm39) A274D possibly damaging Het
Usp14 A G 18: 9,996,239 (GRCm39) I447T possibly damaging Het
Usp32 G A 11: 84,942,028 (GRCm39) L355F probably benign Het
Vcpip1 T C 1: 9,817,927 (GRCm39) N152S possibly damaging Het
Vgf A G 5: 137,061,110 (GRCm39) Q424R probably benign Het
Vmn2r84 A T 10: 130,227,993 (GRCm39) M81K possibly damaging Het
Washc5 G A 15: 59,218,067 (GRCm39) A732V possibly damaging Het
Xrcc3 T G 12: 111,771,485 (GRCm39) D213A probably damaging Het
Zeb2 T C 2: 44,886,988 (GRCm39) T690A probably benign Het
Zfat G A 15: 67,956,250 (GRCm39) S1212L probably damaging Het
Zfp623 C T 15: 75,819,949 (GRCm39) L302F probably damaging Het
Zfp799 A C 17: 33,039,733 (GRCm39) C178G possibly damaging Het
Zfy1 T C Y: 727,634 (GRCm39) E348G unknown Het
Zhx3 A G 2: 160,621,393 (GRCm39) W925R possibly damaging 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
R2389:Cnksr1 UTSW 4 133,961,057 (GRCm39) missense probably benign 0.03
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
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'- CCTTCAGCCTACAAGTCCAGAG -3'
(R):5'- ACTCTTCACCAGGTTGCTGC -3'

Sequencing Primer
(F):5'- TACAAGTCCAGAGCTCACAGTGG -3'
(R):5'- AGGTTGCTGCCCTGGGAG -3'
Posted On 2022-03-25