Incidental Mutation 'R8677:Ctnnal1'
ID 661435
Institutional Source Beutler Lab
Gene Symbol Ctnnal1
Ensembl Gene ENSMUSG00000038816
Gene Name catenin alpha like 1
Synonyms Catnal1, catenin (cadherin associated protein), alpha-like 1, ACRP
MMRRC Submission 068532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R8677 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 56810935-56865188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56813272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 653 (L653P)
Ref Sequence ENSEMBL: ENSMUSP00000036487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045142] [ENSMUST00000045368] [ENSMUST00000131520]
AlphaFold O88327
Predicted Effect probably benign
Transcript: ENSMUST00000045142
AA Change: L653P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: L653P

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:Vinculin 30 309 7e-39 PFAM
Pfam:Vinculin 302 526 1.7e-12 PFAM
Pfam:Vinculin 531 683 5.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045368
SMART Domains Protein: ENSMUSP00000047275
Gene: ENSMUSG00000038827

DomainStartEndE-ValueType
Pfam:GCV_H 117 185 5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131520
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and exhibit no overt phenotypes or defects in hematopoiesis and hematopoietic stem cell function. [provided by MGI curators]
Allele List at MGI

All alleles(111) : Targeted, other(2) Gene trapped(109)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A C 8: 106,427,576 (GRCm39) S25R probably damaging Het
Acly A T 11: 100,410,569 (GRCm39) H136Q probably damaging Het
Adrm1 C T 2: 179,813,832 (GRCm39) T2M probably benign Het
Ankrd12 A T 17: 66,331,209 (GRCm39) L246M probably damaging Het
Bltp2 C T 11: 78,174,982 (GRCm39) R1706C probably damaging Het
Cacnb3 T C 15: 98,539,931 (GRCm39) L258P probably damaging Het
Cd36 C T 5: 18,025,493 (GRCm39) V76M probably damaging Het
Cep120 A G 18: 53,871,633 (GRCm39) F80L possibly damaging Het
Clcn1 A T 6: 42,267,519 (GRCm39) probably null Het
Col17a1 T C 19: 47,640,240 (GRCm39) T1042A probably benign Het
Comp A T 8: 70,832,910 (GRCm39) N623Y probably damaging Het
Cx3cl1 G T 8: 95,506,443 (GRCm39) R149S probably benign Het
Dbndd2 T A 2: 164,330,522 (GRCm39) N58K probably damaging Het
Dclk1 A G 3: 55,409,840 (GRCm39) I595V probably damaging Het
Dhx15 T C 5: 52,341,886 (GRCm39) D144G probably benign Het
Dlat T C 9: 50,570,007 (GRCm39) E120G probably damaging Het
Fam171a1 T A 2: 3,221,352 (GRCm39) Y273N probably damaging Het
Fndc3b A T 3: 27,511,176 (GRCm39) V778D probably benign Het
Grn T C 11: 102,324,393 (GRCm39) S129P possibly damaging Het
Grxcr1 T C 5: 68,267,757 (GRCm39) F169L possibly damaging Het
Hcn2 A G 10: 79,560,619 (GRCm39) I317V probably benign Het
Heca T C 10: 17,791,424 (GRCm39) N211D probably benign Het
Htr1f T C 16: 64,746,414 (GRCm39) T293A possibly damaging Het
Ifitm10 T A 7: 141,909,749 (GRCm39) I116F probably benign Het
Itprid1 A G 6: 55,849,579 (GRCm39) H37R probably benign Het
Ivl A T 3: 92,479,986 (GRCm39) D26E probably benign Het
Kcnma1 T A 14: 23,436,418 (GRCm39) E761V probably benign Het
Ltbp1 G T 17: 75,655,753 (GRCm39) V923F probably benign Het
Mfsd4b2 A T 10: 39,799,805 (GRCm39) F32L probably benign Het
Micu2 T C 14: 58,161,420 (GRCm39) R301G possibly damaging Het
Miip C T 4: 147,947,503 (GRCm39) C219Y probably damaging Het
Mn1 T A 5: 111,566,885 (GRCm39) L285* probably null Het
Mthfd1l T A 10: 3,998,250 (GRCm39) N664K possibly damaging Het
Mttp A T 3: 137,810,437 (GRCm39) H659Q probably benign Het
Myadml2 G A 11: 120,538,815 (GRCm39) P7S probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nlrp4c C T 7: 6,075,644 (GRCm39) T645I probably damaging Het
Notch1 C T 2: 26,359,936 (GRCm39) V1260I probably damaging Het
Numa1 T C 7: 101,650,148 (GRCm39) L1293P probably damaging Het
Or1a1 A T 11: 74,086,415 (GRCm39) I29F probably benign Het
Or56a4 A G 7: 104,806,775 (GRCm39) L38P probably benign Het
Pcdh12 G T 18: 38,415,191 (GRCm39) H645N probably benign Het
Pdcd1 A T 1: 93,968,952 (GRCm39) L122H probably damaging Het
Pknox2 G A 9: 36,821,887 (GRCm39) P246L probably damaging Het
Polr2a A T 11: 69,626,381 (GRCm39) S1590T possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Proser1 A G 3: 53,385,122 (GRCm39) T335A probably benign Het
Ptprc A G 1: 138,011,335 (GRCm39) I598T probably damaging Het
Rasal3 T C 17: 32,615,828 (GRCm39) T337A probably benign Het
Rasgrp3 A T 17: 75,819,055 (GRCm39) T415S probably benign Het
Rbm7 T A 9: 48,401,273 (GRCm39) R152* probably null Het
Sanbr T C 11: 23,545,471 (GRCm39) D474G probably benign Het
Sf3b2 C T 19: 5,336,257 (GRCm39) R513H probably damaging Het
Slc22a30 A G 19: 8,364,035 (GRCm39) S214P probably benign Het
Spam1 A G 6: 24,796,984 (GRCm39) T312A probably benign Het
Ssh2 A G 11: 77,346,019 (GRCm39) T1335A possibly damaging Het
Tef T A 15: 81,699,169 (GRCm39) L59Q probably damaging Het
Tmem131l A C 3: 83,836,009 (GRCm39) V700G probably damaging Het
Twsg1 A G 17: 66,233,402 (GRCm39) S183P probably damaging Het
Unc13c T C 9: 73,840,243 (GRCm39) T203A probably benign Het
Uqcc6 G T 10: 82,456,050 (GRCm39) T37K possibly damaging Het
Vmn2r75 G T 7: 85,814,410 (GRCm39) P361Q possibly damaging Het
Xirp2 A T 2: 67,346,978 (GRCm39) N3073I probably damaging Het
Zfp114 A G 7: 23,880,070 (GRCm39) N140D probably benign Het
Other mutations in Ctnnal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Ctnnal1 APN 4 56,829,544 (GRCm39) missense possibly damaging 0.90
IGL01404:Ctnnal1 APN 4 56,829,590 (GRCm39) missense probably damaging 1.00
IGL01523:Ctnnal1 APN 4 56,835,243 (GRCm39) missense probably damaging 1.00
IGL02413:Ctnnal1 APN 4 56,835,306 (GRCm39) missense probably benign 0.19
IGL02618:Ctnnal1 APN 4 56,817,060 (GRCm39) missense probably benign 0.07
IGL03109:Ctnnal1 APN 4 56,839,045 (GRCm39) missense probably damaging 1.00
IGL03159:Ctnnal1 APN 4 56,844,599 (GRCm39) missense probably benign 0.00
IGL03208:Ctnnal1 APN 4 56,813,833 (GRCm39) missense probably benign 0.00
IGL03250:Ctnnal1 APN 4 56,812,356 (GRCm39) missense probably benign 0.00
NA:Ctnnal1 UTSW 4 56,817,044 (GRCm39) missense probably benign 0.02
R0217:Ctnnal1 UTSW 4 56,813,230 (GRCm39) missense probably benign 0.43
R0391:Ctnnal1 UTSW 4 56,847,921 (GRCm39) missense probably damaging 1.00
R0513:Ctnnal1 UTSW 4 56,835,348 (GRCm39) missense probably benign 0.01
R0582:Ctnnal1 UTSW 4 56,813,228 (GRCm39) missense probably damaging 1.00
R1434:Ctnnal1 UTSW 4 56,847,971 (GRCm39) missense probably damaging 0.96
R1638:Ctnnal1 UTSW 4 56,813,856 (GRCm39) missense probably benign 0.06
R1760:Ctnnal1 UTSW 4 56,838,988 (GRCm39) missense probably damaging 1.00
R1871:Ctnnal1 UTSW 4 56,812,534 (GRCm39) missense probably benign 0.06
R1954:Ctnnal1 UTSW 4 56,817,242 (GRCm39) splice site probably benign
R2050:Ctnnal1 UTSW 4 56,835,350 (GRCm39) missense probably benign 0.38
R2104:Ctnnal1 UTSW 4 56,812,329 (GRCm39) makesense probably null
R3104:Ctnnal1 UTSW 4 56,813,246 (GRCm39) missense probably benign 0.11
R3106:Ctnnal1 UTSW 4 56,813,246 (GRCm39) missense probably benign 0.11
R3918:Ctnnal1 UTSW 4 56,865,000 (GRCm39) missense possibly damaging 0.89
R4705:Ctnnal1 UTSW 4 56,812,579 (GRCm39) missense probably benign 0.09
R4757:Ctnnal1 UTSW 4 56,847,980 (GRCm39) missense probably damaging 1.00
R4780:Ctnnal1 UTSW 4 56,847,857 (GRCm39) missense probably damaging 1.00
R4988:Ctnnal1 UTSW 4 56,847,854 (GRCm39) nonsense probably null
R5771:Ctnnal1 UTSW 4 56,826,328 (GRCm39) missense probably benign 0.00
R5974:Ctnnal1 UTSW 4 56,817,067 (GRCm39) missense probably damaging 1.00
R6061:Ctnnal1 UTSW 4 56,812,349 (GRCm39) missense probably benign
R6129:Ctnnal1 UTSW 4 56,829,573 (GRCm39) missense possibly damaging 0.93
R6389:Ctnnal1 UTSW 4 56,813,849 (GRCm39) missense probably benign 0.00
R7259:Ctnnal1 UTSW 4 56,817,299 (GRCm39) critical splice acceptor site probably null
R7372:Ctnnal1 UTSW 4 56,826,285 (GRCm39) missense possibly damaging 0.75
R7454:Ctnnal1 UTSW 4 56,844,544 (GRCm39) missense probably damaging 1.00
R7520:Ctnnal1 UTSW 4 56,837,838 (GRCm39) missense probably damaging 1.00
R7547:Ctnnal1 UTSW 4 56,817,032 (GRCm39) missense probably damaging 0.99
R7671:Ctnnal1 UTSW 4 56,837,848 (GRCm39) missense probably damaging 1.00
R8097:Ctnnal1 UTSW 4 56,847,845 (GRCm39) missense probably damaging 1.00
R8697:Ctnnal1 UTSW 4 56,838,986 (GRCm39) missense probably damaging 0.98
R8809:Ctnnal1 UTSW 4 56,835,374 (GRCm39) missense possibly damaging 0.68
R9649:Ctnnal1 UTSW 4 56,865,036 (GRCm39) missense possibly damaging 0.95
R9739:Ctnnal1 UTSW 4 56,816,200 (GRCm39) missense probably damaging 1.00
R9790:Ctnnal1 UTSW 4 56,844,584 (GRCm39) missense possibly damaging 0.71
R9791:Ctnnal1 UTSW 4 56,844,584 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TTAGCACGAAGGGCTGGAAC -3'
(R):5'- ATCTTAAAATATAAGCACGGGGTGG -3'

Sequencing Primer
(F):5'- CACGAAGGGCTGGAACTAAGTTG -3'
(R):5'- CTCAGGAGACTAAAACAGGTGGTCTC -3'
Posted On 2021-03-08