Incidental Mutation 'R4509:Cttnbp2nl'
ID 331108
Institutional Source Beutler Lab
Gene Symbol Cttnbp2nl
Ensembl Gene ENSMUSG00000062127
Gene Name CTTNBP2 N-terminal like
Synonyms
MMRRC Submission 041758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R4509 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 104909231-104960462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104940063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 2 (N2S)
Ref Sequence ENSEMBL: ENSMUSP00000096359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]
AlphaFold Q99LJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000077548
AA Change: N2S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: N2S

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 probably damaging
Transcript: ENSMUST00000098763
AA Change: N2S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: N2S

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 damaging
Transcript: ENSMUST00000197437
AA Change: N2S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127
AA Change: N2S

DomainStartEndE-ValueType
Pfam:CortBP2 1 167 7.7e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199002
Meta Mutation Damage Score 0.1252 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,857,581 (GRCm39) L657P probably damaging Het
Adam4 A T 12: 81,468,521 (GRCm39) C33* probably null Het
Adam6b T C 12: 113,453,972 (GRCm39) V263A probably benign Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Ascc3 T C 10: 50,718,339 (GRCm39) F2011L probably benign Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Cacna1d T C 14: 29,818,928 (GRCm39) Y1209C probably damaging Het
Camta2 G A 11: 70,571,844 (GRCm39) T484M probably benign Het
Ccdc178 T C 18: 22,200,449 (GRCm39) N452D possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Gm15032 A T X: 141,405,622 (GRCm39) noncoding transcript Het
Gzmg G A 14: 56,394,210 (GRCm39) P228L probably damaging Het
Hao1 T A 2: 134,364,964 (GRCm39) D221V probably damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Mdn1 C T 4: 32,715,883 (GRCm39) R2022C probably damaging Het
Mipep T C 14: 61,064,770 (GRCm39) Y375H probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Pah T C 10: 87,412,077 (GRCm39) probably null Het
Perm1 T C 4: 156,302,043 (GRCm39) S196P probably benign Het
Pik3c2g A T 6: 139,665,732 (GRCm39) T18S probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Ppp3cb A T 14: 20,565,569 (GRCm39) probably benign Het
Psd4 T C 2: 24,286,347 (GRCm39) S316P probably benign Het
Ptpn18 T C 1: 34,501,823 (GRCm39) V45A possibly damaging Het
Rasgrp3 A G 17: 75,807,668 (GRCm39) M242V probably damaging Het
Repin1 T C 6: 48,573,460 (GRCm39) C130R possibly damaging Het
Rrp1 G T 10: 78,248,656 (GRCm39) T44K possibly damaging Het
Slc44a5 A G 3: 153,939,710 (GRCm39) Y88C probably damaging Het
Socs1 C T 16: 10,602,218 (GRCm39) R173Q probably benign Het
Speer3 T G 5: 13,846,368 (GRCm39) N229K possibly damaging Het
Sult2a7 T A 7: 14,204,086 (GRCm39) I226F probably damaging Het
Tdp1 G A 12: 99,921,324 (GRCm39) probably benign Het
Tnfrsf21 G A 17: 43,396,279 (GRCm39) S521N probably benign Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Ubqln3 G A 7: 103,790,651 (GRCm39) L480F probably damaging Het
Vps13d G A 4: 144,789,172 (GRCm39) P3817L probably damaging Het
Xpr1 A G 1: 155,165,907 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,520,411 (GRCm39) E511G probably benign Het
Zfp560 C T 9: 20,260,019 (GRCm39) C281Y probably damaging Het
Other mutations in Cttnbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Cttnbp2nl APN 3 104,912,346 (GRCm39) missense probably damaging 1.00
IGL01832:Cttnbp2nl APN 3 104,918,544 (GRCm39) missense probably damaging 1.00
IGL02070:Cttnbp2nl APN 3 104,918,582 (GRCm39) missense probably damaging 1.00
R0131:Cttnbp2nl UTSW 3 104,913,173 (GRCm39) missense probably damaging 1.00
R0131:Cttnbp2nl UTSW 3 104,913,173 (GRCm39) missense probably damaging 1.00
R0132:Cttnbp2nl UTSW 3 104,913,173 (GRCm39) missense probably damaging 1.00
R1919:Cttnbp2nl UTSW 3 104,918,594 (GRCm39) missense possibly damaging 0.51
R3766:Cttnbp2nl UTSW 3 104,912,117 (GRCm39) missense probably benign 0.27
R3964:Cttnbp2nl UTSW 3 104,913,321 (GRCm39) missense probably damaging 1.00
R4597:Cttnbp2nl UTSW 3 104,913,191 (GRCm39) missense possibly damaging 0.76
R4820:Cttnbp2nl UTSW 3 104,918,640 (GRCm39) missense probably benign 0.00
R5233:Cttnbp2nl UTSW 3 104,912,357 (GRCm39) missense probably damaging 1.00
R6230:Cttnbp2nl UTSW 3 104,918,655 (GRCm39) missense probably damaging 0.99
R6385:Cttnbp2nl UTSW 3 104,912,952 (GRCm39) missense probably benign 0.41
R6551:Cttnbp2nl UTSW 3 104,912,433 (GRCm39) missense possibly damaging 0.92
R6685:Cttnbp2nl UTSW 3 104,912,814 (GRCm39) missense probably benign 0.06
R6883:Cttnbp2nl UTSW 3 104,918,507 (GRCm39) critical splice donor site probably null
R7262:Cttnbp2nl UTSW 3 104,940,062 (GRCm39) missense probably damaging 1.00
R7509:Cttnbp2nl UTSW 3 104,940,046 (GRCm39) missense possibly damaging 0.94
R7619:Cttnbp2nl UTSW 3 104,912,076 (GRCm39) missense possibly damaging 0.73
R7978:Cttnbp2nl UTSW 3 104,915,307 (GRCm39) missense probably damaging 0.99
R8115:Cttnbp2nl UTSW 3 104,913,402 (GRCm39) missense probably damaging 1.00
X0060:Cttnbp2nl UTSW 3 104,912,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGGCGTCATCATTCCTTTCC -3'
(R):5'- CCAGCCTTGTAAAAGGTGATG -3'

Sequencing Primer
(F):5'- GGTCTCAAACTCAGAGATCTGCCTG -3'
(R):5'- AAGGTGATGAATAATTGATCCTGGTG -3'
Posted On 2015-07-21