Incidental Mutation 'R4757:Ctnnal1'
ID 358219
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 041973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R4757 (G1)
Quality Score 182
Status Not validated
Chromosome 4
Chromosomal Location 56810935-56865188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56847980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 53 (H53L)
Ref Sequence ENSEMBL: ENSMUSP00000036487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045142] [ENSMUST00000107612]
AlphaFold O88327
Predicted Effect probably damaging
Transcript: ENSMUST00000045142
AA Change: H53L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: H53L

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 possibly damaging
Transcript: ENSMUST00000107612
AA Change: H53L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103237
Gene: ENSMUSG00000038816
AA Change: H53L

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:Vinculin 30 214 5.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134754
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Abcb1a T A 5: 8,787,632 (GRCm39) V978D probably damaging Het
Acsm4 T C 7: 119,297,900 (GRCm39) V179A probably benign Het
Agtr1a C A 13: 30,565,842 (GRCm39) Y302* probably null Het
Akap9 T C 5: 4,058,382 (GRCm39) I1677T probably damaging Het
Ankk1 T A 9: 49,327,230 (GRCm39) M650L probably benign Het
Apod T A 16: 31,122,280 (GRCm39) N65Y probably damaging Het
Bcl2l1 T A 2: 152,624,178 (GRCm39) N197Y possibly damaging Het
Brpf1 A T 6: 113,292,072 (GRCm39) I373F probably damaging Het
Car13 T C 3: 14,726,615 (GRCm39) V257A probably damaging Het
Ccdc150 A T 1: 54,317,874 (GRCm39) H271L possibly damaging Het
Cit T A 5: 116,135,608 (GRCm39) I1836N probably damaging Het
Clec12b A G 6: 129,357,655 (GRCm39) S68P probably damaging Het
Col4a4 A G 1: 82,506,187 (GRCm39) F298L unknown Het
Crct1 G A 3: 92,922,093 (GRCm39) Q15* probably null Het
Creld1 A G 6: 113,469,208 (GRCm39) E346G probably benign Het
Cyb5d1 T C 11: 69,285,814 (GRCm39) D74G probably damaging Het
Deptor A T 15: 55,075,674 (GRCm39) S293C probably damaging Het
Dnajb12 A G 10: 59,728,592 (GRCm39) S187G probably benign Het
Duoxa2 G T 2: 122,131,072 (GRCm39) V78L possibly damaging Het
Fem1al A T 11: 29,775,454 (GRCm39) M1K probably null Het
Fhod1 C A 8: 106,074,443 (GRCm39) probably benign Het
Foxf2 C T 13: 31,810,172 (GRCm39) P37L unknown Het
Gabbr2 T C 4: 46,875,675 (GRCm39) N149S probably damaging Het
Gckr G T 5: 31,464,728 (GRCm39) M344I possibly damaging Het
Herc6 G A 6: 57,577,045 (GRCm39) probably null Het
Igf1 A T 10: 87,751,287 (GRCm39) E161V probably benign Het
Ighv8-13 T A 12: 115,729,268 (GRCm39) probably benign Het
Igkv6-14 A T 6: 70,412,426 (GRCm39) L12* probably null Het
Kpnb1 C T 11: 97,068,160 (GRCm39) S270N possibly damaging Het
Lingo1 A G 9: 56,527,209 (GRCm39) V460A probably benign Het
Lsm6 T C 8: 79,539,711 (GRCm39) probably null Het
Mccc1 C T 3: 36,050,066 (GRCm39) G42E probably benign Het
Mga A G 2: 119,734,120 (GRCm39) K323E possibly damaging Het
Mks1 A G 11: 87,753,850 (GRCm39) *562W probably null Het
Mrgpra4 T A 7: 47,630,686 (GRCm39) E305V probably damaging Het
Msh4 T A 3: 153,585,024 (GRCm39) H360L probably damaging Het
Mthfsd C T 8: 121,825,737 (GRCm39) probably null Het
Myl12a A T 17: 71,303,798 (GRCm39) F26L possibly damaging Het
Nedd4l A G 18: 65,298,676 (GRCm39) S343G probably damaging Het
Nlgn1 T A 3: 25,490,332 (GRCm39) D465V probably damaging Het
Nlgn1 C T 3: 25,490,507 (GRCm39) V407I possibly damaging Het
Npsr1 T C 9: 24,046,064 (GRCm39) V61A probably benign Het
Nrxn2 A G 19: 6,559,851 (GRCm39) D160G probably damaging Het
Or2p2 T C 13: 21,256,715 (GRCm39) Y252C probably damaging Het
Or52d3 T C 7: 104,229,404 (GRCm39) Y184H possibly damaging Het
Or5b107 A C 19: 13,143,277 (GRCm39) S300R probably benign Het
Or5b113 G T 19: 13,342,810 (GRCm39) A273S probably benign Het
Or9g4 A G 2: 85,504,664 (GRCm39) F277S probably damaging Het
Pbx1 C A 1: 168,023,450 (GRCm39) R235L probably damaging Het
Pcnx4 T C 12: 72,603,067 (GRCm39) V443A probably benign Het
Pde7b T C 10: 20,423,688 (GRCm39) T63A probably benign Het
Phf3 C T 1: 30,859,908 (GRCm39) G873D probably damaging Het
Phox2b A T 5: 67,256,197 (GRCm39) Y30N probably damaging Het
Plch2 T A 4: 155,080,690 (GRCm39) I599F possibly damaging Het
Plekha8 A G 6: 54,599,213 (GRCm39) E249G probably benign Het
Pou2af1 T A 9: 51,144,439 (GRCm39) Y118N possibly damaging Het
Ppp3cc T A 14: 70,455,635 (GRCm39) K489N possibly damaging Het
Sema4b T C 7: 79,866,577 (GRCm39) L219P probably damaging Het
Slc6a5 T G 7: 49,609,030 (GRCm39) V745G probably benign Het
Slf2 A G 19: 44,923,497 (GRCm39) M104V probably benign Het
Slx1b A G 7: 126,291,701 (GRCm39) V121A probably benign Het
Speer4e2 T A 5: 15,026,222 (GRCm39) H145L probably benign Het
Spen T A 4: 141,200,390 (GRCm39) K2746* probably null Het
Stxbp5l T C 16: 37,008,996 (GRCm39) Y681C probably damaging Het
Sv2b T C 7: 74,773,918 (GRCm39) T518A probably benign Het
Tgm7 A T 2: 120,926,870 (GRCm39) H426Q possibly damaging Het
Tlx2 A G 6: 83,046,900 (GRCm39) F54S probably benign Het
Trp53bp2 A T 1: 182,286,339 (GRCm39) M1060L probably benign Het
Trpv5 T A 6: 41,630,148 (GRCm39) E647D probably damaging Het
Tut1 G T 19: 8,936,672 (GRCm39) K165N possibly damaging Het
Tyro3 A G 2: 119,641,419 (GRCm39) K543E probably damaging Het
Vmn2r69 T A 7: 85,061,575 (GRCm39) Y133F probably damaging Het
Zfhx4 T A 3: 5,465,122 (GRCm39) V1785D possibly damaging Het
Zfp451 A G 1: 33,804,939 (GRCm39) L1037P probably damaging Het
Zscan29 A T 2: 120,991,392 (GRCm39) F799I possibly damaging 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
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
R8677:Ctnnal1 UTSW 4 56,813,272 (GRCm39) missense probably benign 0.00
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'- CTTGCTTGGCTTCGATGCAG -3'
(R):5'- TAGAAGCATTGTCCTGGGAAATG -3'

Sequencing Primer
(F):5'- CGATGCAGGCGATGTTAATTTC -3'
(R):5'- AATGATGCAAGATGCTCTGCTTCC -3'
Posted On 2015-11-11