Incidental Mutation 'R4788:Cabp1'
ID 367243
Institutional Source Beutler Lab
Gene Symbol Cabp1
Ensembl Gene ENSMUSG00000029544
Gene Name calcium binding protein 1
Synonyms caldendrin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4788 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115306750-115332440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115313530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 226 (N226S)
Ref Sequence ENSEMBL: ENSMUSP00000107741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031519] [ENSMUST00000112112] [ENSMUST00000112113] [ENSMUST00000145197]
AlphaFold Q9JLK7
Predicted Effect probably benign
Transcript: ENSMUST00000031519
AA Change: N103S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031519
Gene: ENSMUSG00000029544
AA Change: N103S

DomainStartEndE-ValueType
EFh 86 114 1.22e-5 SMART
Blast:EFh 122 150 1e-7 BLAST
EFh 163 191 3.93e-9 SMART
EFh 200 227 7.82e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112109
SMART Domains Protein: ENSMUSP00000107737
Gene: ENSMUSG00000029544

DomainStartEndE-ValueType
EFh 71 99 1.22e-5 SMART
Blast:EFh 107 135 8e-8 BLAST
EFh 148 176 3.93e-9 SMART
EFh 185 212 7.82e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112112
AA Change: N43S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107740
Gene: ENSMUSG00000029544
AA Change: N43S

DomainStartEndE-ValueType
EFh 26 54 1.22e-5 SMART
Blast:EFh 62 90 5e-8 BLAST
EFh 103 131 3.93e-9 SMART
EFh 140 167 7.82e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112113
AA Change: N226S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107741
Gene: ENSMUSG00000029544
AA Change: N226S

DomainStartEndE-ValueType
low complexity region 29 55 N/A INTRINSIC
low complexity region 58 113 N/A INTRINSIC
low complexity region 159 171 N/A INTRINSIC
EFh 209 237 1.22e-5 SMART
Blast:EFh 245 273 3e-7 BLAST
EFh 286 314 3.93e-9 SMART
EFh 323 350 7.82e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201900
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and show no apparent motor deficits, but they are affected in the transmission of responses to light through the retinal circuits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,960,361 (GRCm39) D815N probably damaging Het
Abcc9 A T 6: 142,566,456 (GRCm39) C1135* probably null Het
Ap3b1 G A 13: 94,702,149 (GRCm39) M1067I unknown Het
Arhgap15 T C 2: 43,638,902 (GRCm39) M1T probably null Het
Boc T C 16: 44,320,796 (GRCm39) D288G probably damaging Het
Brsk1 G T 7: 4,701,954 (GRCm39) probably null Het
Capn13 A T 17: 73,644,427 (GRCm39) Y367* probably null Het
Ccdc191 A G 16: 43,777,185 (GRCm39) E632G probably damaging Het
Cit T C 5: 116,071,565 (GRCm39) S591P probably damaging Het
Ckmt1 T C 2: 121,190,427 (GRCm39) V118A possibly damaging Het
Cndp2 T C 18: 84,693,289 (GRCm39) N157S probably damaging Het
Col6a3 A G 1: 90,700,672 (GRCm39) probably null Het
Coq2 A T 5: 100,805,775 (GRCm39) V287E probably damaging Het
Cpa6 T C 1: 10,478,502 (GRCm39) K278R possibly damaging Het
Cracdl A T 1: 37,670,556 (GRCm39) I128K probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a25 A T 5: 145,921,892 (GRCm39) Y347* probably null Het
Dcun1d4 G T 5: 73,691,971 (GRCm39) W160L probably damaging Het
Dennd4c A G 4: 86,738,200 (GRCm39) T994A probably benign Het
Dhx57 T C 17: 80,582,760 (GRCm39) T229A probably benign Het
Dnah6 T A 6: 73,106,513 (GRCm39) R1741S probably damaging Het
Dock1 T A 7: 134,747,213 (GRCm39) V1508D probably damaging Het
Donson T C 16: 91,484,721 (GRCm39) T117A possibly damaging Het
Dtnb A G 12: 3,822,699 (GRCm39) D533G probably damaging Het
Fcrl5 A G 3: 87,364,495 (GRCm39) N470S probably damaging Het
Focad T A 4: 88,275,706 (GRCm39) V1105E unknown Het
Fry T C 5: 150,323,101 (GRCm39) V1084A probably benign Het
Gabra1 G T 11: 42,037,980 (GRCm39) R213S probably damaging Het
Gbp2b A C 3: 142,317,171 (GRCm39) K509T probably benign Het
Gprc6a T C 10: 51,491,104 (GRCm39) T811A probably benign Het
Hmgcs2 A G 3: 98,198,400 (GRCm39) D101G probably damaging Het
Ifna11 G A 4: 88,738,245 (GRCm39) W17* probably null Het
Ighv1-62-3 T A 12: 115,424,672 (GRCm39) M100L probably benign Het
Lgmn T A 12: 102,368,936 (GRCm39) Y181F probably benign Het
Map4k4 T C 1: 40,043,076 (GRCm39) S644P probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Nav1 C T 1: 135,397,461 (GRCm39) A903T probably benign Het
Nop53 T C 7: 15,676,240 (GRCm39) E153G possibly damaging Het
Nop56 G T 2: 130,120,820 (GRCm39) V190L probably benign Het
Nyap2 A T 1: 81,247,112 (GRCm39) M687L probably benign Het
Or4a81 G A 2: 89,619,480 (GRCm39) S72F probably damaging Het
Or8g17 T C 9: 38,930,217 (GRCm39) T207A probably benign Het
Or8g26 A G 9: 39,095,908 (GRCm39) T145A probably benign Het
Osbp2 T C 11: 3,813,320 (GRCm39) K183R probably benign Het
Pappa2 A G 1: 158,611,487 (GRCm39) V1492A possibly damaging Het
Pax1 A G 2: 147,208,124 (GRCm39) Q244R possibly damaging Het
Pcdh9 C A 14: 94,124,851 (GRCm39) V317F probably damaging Het
Pkhd1l1 A T 15: 44,361,417 (GRCm39) Q489L probably damaging Het
Poln A T 5: 34,286,675 (GRCm39) S164R probably benign Het
Ptf1a T C 2: 19,450,762 (GRCm39) S31P probably benign Het
Rasal3 A T 17: 32,618,312 (GRCm39) D164E probably benign Het
Rnf170 A G 8: 26,630,891 (GRCm39) E168G probably damaging Het
Rubcn A G 16: 32,656,778 (GRCm39) probably null Het
Sec16b A T 1: 157,389,094 (GRCm39) T830S possibly damaging Het
Sel1l3 A G 5: 53,289,175 (GRCm39) V882A probably benign Het
Sfpq A G 4: 126,919,791 (GRCm39) E512G probably damaging Het
Sh3pxd2a A G 19: 47,302,518 (GRCm39) L187P probably damaging Het
Skint6 C T 4: 113,095,533 (GRCm39) G42D possibly damaging Het
Slc7a2 A G 8: 41,367,023 (GRCm39) I526V probably benign Het
Spmip7 T C 11: 11,438,652 (GRCm39) probably null Het
Ssh2 A T 11: 77,320,624 (GRCm39) N328Y probably damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tom1l2 A G 11: 60,139,844 (GRCm39) L275P probably damaging Het
Trgv5 A G 13: 19,376,724 (GRCm39) K57R probably benign Het
Tyrp1 C T 4: 80,763,180 (GRCm39) R356* probably null Het
Zan A G 5: 137,440,375 (GRCm39) L1953P unknown Het
Zfhx3 T C 8: 109,520,842 (GRCm39) S655P probably damaging Het
Zmym1 T C 4: 126,948,090 (GRCm39) T94A probably benign Het
Other mutations in Cabp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1280:Cabp1 UTSW 5 115,313,530 (GRCm39) missense probably benign 0.06
R1307:Cabp1 UTSW 5 115,310,965 (GRCm39) missense probably damaging 0.99
R1435:Cabp1 UTSW 5 115,311,267 (GRCm39) missense probably damaging 1.00
R2509:Cabp1 UTSW 5 115,310,843 (GRCm39) missense probably damaging 1.00
R4417:Cabp1 UTSW 5 115,324,096 (GRCm39) missense possibly damaging 0.68
R4837:Cabp1 UTSW 5 115,311,212 (GRCm39) missense probably damaging 1.00
R5026:Cabp1 UTSW 5 115,313,531 (GRCm39) missense possibly damaging 0.83
R5199:Cabp1 UTSW 5 115,324,102 (GRCm39) missense possibly damaging 0.92
R6513:Cabp1 UTSW 5 115,307,193 (GRCm39) missense possibly damaging 0.51
R6941:Cabp1 UTSW 5 115,310,960 (GRCm39) missense probably damaging 1.00
R9659:Cabp1 UTSW 5 115,311,187 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TGTCGGGAAACACAGAACAC -3'
(R):5'- AGAGAGGCAGGTTCACTTGG -3'

Sequencing Primer
(F):5'- CGAGATACAAGAGCTGACCC -3'
(R):5'- CAGGGATCATTTTGTAGAGAGCC -3'
Posted On 2015-12-29