Incidental Mutation 'R7619:Cttnbp2nl'
ID589037
Institutional Source Beutler Lab
Gene Symbol Cttnbp2nl
Ensembl Gene ENSMUSG00000062127
Gene NameCTTNBP2 N-terminal like
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #R7619 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location105001915-105053146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105004760 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 603 (S603P)
Ref Sequence ENSEMBL: ENSMUSP00000076751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077548
AA Change: S603P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: S603P

DomainStartEndE-ValueType
Pfam:CortBP2 1 189 1.9e-60 PFAM
low complexity region 263 278 N/A INTRINSIC
low complexity region 401 434 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
low complexity region 578 586 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098763
AA Change: S603P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: S603P

DomainStartEndE-ValueType
Pfam:CortBP2 2 188 8.5e-71 PFAM
low complexity region 263 278 N/A INTRINSIC
low complexity region 401 434 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
low complexity region 578 586 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197437
SMART Domains Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127

DomainStartEndE-ValueType
Pfam:CortBP2 1 167 7.7e-53 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C G 16: 14,445,419 P748A probably damaging Het
Abcc12 A G 8: 86,566,553 V2A probably damaging Het
Anxa3 T C 5: 96,830,404 Y216H probably damaging Het
Arpc1a C A 5: 145,104,858 T317K probably benign Het
C330018D20Rik A G 18: 56,962,411 L34S probably damaging Het
C5ar1 A G 7: 16,248,579 F172S probably damaging Het
Ccl27a G A 4: 41,774,166 probably benign Het
Clip1 T C 5: 123,614,279 N480D Het
Dmc1 A T 15: 79,596,242 probably null Het
Dnhd1 A G 7: 105,674,268 I626V probably benign Het
Dnm2 A G 9: 21,505,634 N821S probably benign Het
Dst T C 1: 34,199,428 L1723S probably benign Het
Ep300 T A 15: 81,608,198 M245K unknown Het
Fam227a T C 15: 79,617,766 T536A probably benign Het
Fbn2 G T 18: 58,080,227 R963S possibly damaging Het
Fbxo42 T G 4: 141,200,362 I651S possibly damaging Het
Ggnbp1 T A 17: 27,018,131 M1K probably null Het
Gm10800 AAAGAAAACTGAA ACAAGAAAACTGAA 2: 98,667,033 probably null Het
Gm12794 T G 4: 101,941,300 F156C probably benign Het
Grid2 T C 6: 63,931,101 F242L possibly damaging Het
Igf2r A G 17: 12,698,273 V1580A possibly damaging Het
March4 A G 1: 72,534,989 V50A possibly damaging Het
Mettl15 T A 2: 109,092,875 R401* probably null Het
Mki67 A T 7: 135,699,377 H1309Q probably benign Het
Mtor T C 4: 148,462,795 Y412H probably damaging Het
Myef2 C T 2: 125,123,476 G15S probably benign Het
Napepld A T 5: 21,675,848 I183N probably damaging Het
Nbeal2 T C 9: 110,625,818 E2644G probably benign Het
Neb C T 2: 52,296,426 R878Q possibly damaging Het
Olfr685 A G 7: 105,180,749 V203A probably damaging Het
Otol1 A T 3: 70,027,869 H398L probably damaging Het
Pcdhga9 A G 18: 37,738,752 S545G probably damaging Het
Rhbdl1 T C 17: 25,837,017 S4G possibly damaging Het
Ric1 A G 19: 29,579,775 E420G probably benign Het
Sap30l G A 11: 57,808,061 R120H probably damaging Het
Scn2a T C 2: 65,715,903 F937L probably damaging Het
Sdf2 G A 11: 78,251,163 G108D probably damaging Het
Skint5 T C 4: 113,524,108 S1263G unknown Het
Stab1 A G 14: 31,145,237 I1722T probably benign Het
Syn3 A G 10: 86,057,564 S472P unknown Het
Tcp11l2 T C 10: 84,594,758 F249S probably damaging Het
Thoc7 T A 14: 13,961,819 probably null Het
Tvp23a C A 16: 10,428,738 C61F probably damaging Het
Ubfd1 G A 7: 122,067,383 G34D probably benign Het
Vmn1r160 A T 7: 22,871,542 T107S probably damaging Het
Vmn2r108 T A 17: 20,472,195 K133I probably benign Het
Vmn2r15 A T 5: 109,288,324 probably null Het
Wdr25 G A 12: 108,992,893 G344S possibly damaging Het
Zfp354c C T 11: 50,817,808 probably null Het
Zfp560 G T 9: 20,348,910 Q219K probably benign Het
Zfp691 C T 4: 119,170,984 G17E probably damaging Het
Zfp930 T A 8: 69,209,158 M1K probably null Het
Zkscan14 A G 5: 145,195,359 F454S probably benign Het
Other mutations in Cttnbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Cttnbp2nl APN 3 105005030 missense probably damaging 1.00
IGL01832:Cttnbp2nl APN 3 105011228 missense probably damaging 1.00
IGL02070:Cttnbp2nl APN 3 105011266 missense probably damaging 1.00
R0131:Cttnbp2nl UTSW 3 105005857 missense probably damaging 1.00
R0131:Cttnbp2nl UTSW 3 105005857 missense probably damaging 1.00
R0132:Cttnbp2nl UTSW 3 105005857 missense probably damaging 1.00
R1919:Cttnbp2nl UTSW 3 105011278 missense possibly damaging 0.51
R3766:Cttnbp2nl UTSW 3 105004801 missense probably benign 0.27
R3964:Cttnbp2nl UTSW 3 105006005 missense probably damaging 1.00
R4509:Cttnbp2nl UTSW 3 105032747 missense probably damaging 1.00
R4597:Cttnbp2nl UTSW 3 105005875 missense possibly damaging 0.76
R4820:Cttnbp2nl UTSW 3 105011324 missense probably benign 0.00
R5233:Cttnbp2nl UTSW 3 105005041 missense probably damaging 1.00
R6230:Cttnbp2nl UTSW 3 105011339 missense probably damaging 0.99
R6385:Cttnbp2nl UTSW 3 105005636 missense probably benign 0.41
R6551:Cttnbp2nl UTSW 3 105005117 missense possibly damaging 0.92
R6685:Cttnbp2nl UTSW 3 105005498 missense probably benign 0.06
R6883:Cttnbp2nl UTSW 3 105011191 critical splice donor site probably null
R7262:Cttnbp2nl UTSW 3 105032746 missense probably damaging 1.00
R7509:Cttnbp2nl UTSW 3 105032730 missense possibly damaging 0.94
X0060:Cttnbp2nl UTSW 3 105005218 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTTTAACGCTGAGCTCTTG -3'
(R):5'- GGACAGACTACCGAAATCTGGC -3'

Sequencing Primer
(F):5'- CTCTTGGCCCGAGTCTGATG -3'
(R):5'- GAAATCTGGCCAGCACTGC -3'
Posted On2019-10-24