Incidental Mutation 'IGL01448:Celsr2'
ID 84528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celsr2
Ensembl Gene ENSMUSG00000068740
Gene Name cadherin, EGF LAG seven-pass G-type receptor 2
Synonyms mfmi1, EGFL2, flamingo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 3
Chromosomal Location 108390851-108415552 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108393239 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 2835 (L2835P)
Ref Sequence ENSEMBL: ENSMUSP00000088046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090558]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090558
AA Change: L2835P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740
AA Change: L2835P

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 35 53 N/A INTRINSIC
CA 203 287 1.36e-26 SMART
CA 311 397 1.33e-29 SMART
CA 421 503 2.59e-27 SMART
CA 527 608 3.33e-30 SMART
CA 632 710 5.18e-18 SMART
CA 734 813 1.08e-29 SMART
CA 837 919 8.08e-29 SMART
low complexity region 920 932 N/A INTRINSIC
CA 943 1021 4.3e-24 SMART
CA 1049 1125 1.87e-1 SMART
low complexity region 1188 1198 N/A INTRINSIC
EGF 1231 1286 1.81e-3 SMART
EGF_CA 1288 1324 2.24e-8 SMART
EGF 1331 1366 6.65e-2 SMART
LamG 1387 1554 8.4e-30 SMART
EGF 1577 1610 8e-5 SMART
LamG 1636 1770 1.56e-24 SMART
EGF 1796 1829 2.35e-2 SMART
EGF 1831 1867 3.88e-3 SMART
TNFR 1908 1943 1.35e-1 SMART
EGF_Lam 1924 1969 9.54e-12 SMART
HormR 1972 2034 1.57e-20 SMART
Pfam:GAIN 2046 2289 3e-62 PFAM
GPS 2315 2368 1.86e-25 SMART
Pfam:7tm_2 2373 2605 1.1e-48 PFAM
low complexity region 2715 2733 N/A INTRINSIC
low complexity region 2857 2873 N/A INTRINSIC
low complexity region 2874 2881 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133216
Predicted Effect unknown
Transcript: ENSMUST00000147251
AA Change: L823P
SMART Domains Protein: ENSMUSP00000122329
Gene: ENSMUSG00000068740
AA Change: L823P

DomainStartEndE-ValueType
Pfam:GAIN 35 278 5.1e-63 PFAM
GPS 304 357 1.86e-25 SMART
Pfam:7tm_2 362 594 2e-49 PFAM
low complexity region 704 722 N/A INTRINSIC
low complexity region 846 862 N/A INTRINSIC
low complexity region 863 870 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(3)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 (GRCm38) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 (GRCm38) probably benign Het
2610303G11Rik T A 9: 98,186,709 (GRCm38) noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 (GRCm38) D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 (GRCm38) E34K probably damaging Het
Alms1 T A 6: 85,677,899 (GRCm38) N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 (GRCm38) A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 (GRCm38) P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 (GRCm38) T181I possibly damaging Het
Ctns A T 11: 73,188,722 (GRCm38) V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 (GRCm38) R429G probably damaging Het
Ddx11 T C 17: 66,134,137 (GRCm38) V218A probably damaging Het
Eftud2 G A 11: 102,865,563 (GRCm38) probably benign Het
Erich1 G T 8: 14,078,853 (GRCm38) T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 (GRCm38) E215G probably damaging Het
Fam184a G T 10: 53,698,949 (GRCm38) A188E probably benign Het
Fign A G 2: 63,979,688 (GRCm38) S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 (GRCm38) S33P probably damaging Het
Glb1 A G 9: 114,450,677 (GRCm38) probably benign Het
H2-Q1 T C 17: 35,323,461 (GRCm38) probably benign Het
Helz2 T C 2: 181,233,977 (GRCm38) T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 (GRCm38) E32G probably damaging Het
Ints5 C T 19: 8,895,487 (GRCm38) P270L possibly damaging Het
Itga7 G T 10: 128,949,468 (GRCm38) E847* probably null Het
Kcns3 A C 12: 11,091,643 (GRCm38) S352A possibly damaging Het
Kiz A G 2: 146,863,801 (GRCm38) K94E probably benign Het
Lin7b C T 7: 45,369,200 (GRCm38) V12M probably damaging Het
Myo18b A T 5: 112,811,704 (GRCm38) I1409N probably damaging Het
Myo5b A G 18: 74,644,090 (GRCm38) H407R probably damaging Het
Nelfa T C 5: 33,898,802 (GRCm38) T506A probably damaging Het
Or10p21 A G 10: 129,011,860 (GRCm38) T192A probably damaging Het
Or4d5 A T 9: 40,101,082 (GRCm38) M136K probably damaging Het
Or5p72 T A 7: 108,423,028 (GRCm38) Y152* probably null Het
Or6c69 A G 10: 129,912,245 (GRCm38) I11T possibly damaging Het
Pclo A C 5: 14,676,394 (GRCm38) probably benign Het
Pes1 G A 11: 3,977,979 (GRCm38) E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 (GRCm38) probably benign Het
Rapgef2 T C 3: 79,068,937 (GRCm38) M1521V probably benign Het
Rapgef2 C T 3: 79,103,962 (GRCm38) probably null Het
Reln A G 5: 22,040,405 (GRCm38) V735A probably benign Het
Slc2a4 A G 11: 69,945,076 (GRCm38) S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 (GRCm38) G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 (GRCm38) R918S probably benign Het
St3gal4 T C 9: 35,052,331 (GRCm38) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm38) probably null Het
Stxbp5l T C 16: 37,215,979 (GRCm38) I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 (GRCm38) T231A probably benign Het
Tiparp G T 3: 65,552,609 (GRCm38) G442* probably null Het
Tnks A G 8: 34,839,982 (GRCm38) Y1138H probably damaging Het
Vezt T A 10: 93,996,857 (GRCm38) I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 (GRCm38) N388K probably damaging Het
Zbed3 A G 13: 95,336,634 (GRCm38) K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 (GRCm38) T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 (GRCm38) Q176L possibly damaging Het
Other mutations in Celsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Celsr2 APN 3 108,413,879 (GRCm38) missense possibly damaging 0.49
IGL01020:Celsr2 APN 3 108,403,270 (GRCm38) missense probably damaging 0.99
IGL01420:Celsr2 APN 3 108,393,763 (GRCm38) missense probably benign 0.13
IGL01559:Celsr2 APN 3 108,406,867 (GRCm38) missense possibly damaging 0.75
IGL01674:Celsr2 APN 3 108,414,843 (GRCm38) missense probably damaging 1.00
IGL01863:Celsr2 APN 3 108,394,022 (GRCm38) missense probably benign 0.00
IGL02309:Celsr2 APN 3 108,396,011 (GRCm38) missense probably damaging 1.00
IGL02325:Celsr2 APN 3 108,412,871 (GRCm38) missense probably damaging 1.00
IGL02409:Celsr2 APN 3 108,413,955 (GRCm38) missense probably damaging 1.00
IGL02514:Celsr2 APN 3 108,397,510 (GRCm38) missense probably benign 0.01
IGL02812:Celsr2 APN 3 108,414,113 (GRCm38) missense probably benign 0.25
IGL02894:Celsr2 APN 3 108,395,210 (GRCm38) missense probably damaging 1.00
IGL03281:Celsr2 APN 3 108,412,940 (GRCm38) missense probably damaging 1.00
barrow UTSW 3 108,394,965 (GRCm38) missense possibly damaging 0.92
goldeneye UTSW 3 108,394,919 (GRCm38) missense probably damaging 1.00
1mM(1):Celsr2 UTSW 3 108,400,838 (GRCm38) missense probably benign 0.01
ANU74:Celsr2 UTSW 3 108,412,499 (GRCm38) missense probably damaging 1.00
IGL02799:Celsr2 UTSW 3 108,414,062 (GRCm38) missense probably damaging 1.00
R0011:Celsr2 UTSW 3 108,413,402 (GRCm38) missense probably benign 0.19
R0031:Celsr2 UTSW 3 108,413,063 (GRCm38) missense probably damaging 1.00
R0049:Celsr2 UTSW 3 108,397,254 (GRCm38) missense probably benign 0.12
R0049:Celsr2 UTSW 3 108,397,254 (GRCm38) missense probably benign 0.12
R0090:Celsr2 UTSW 3 108,393,327 (GRCm38) splice site probably benign
R0140:Celsr2 UTSW 3 108,397,933 (GRCm38) missense probably benign 0.00
R0524:Celsr2 UTSW 3 108,401,587 (GRCm38) missense probably damaging 1.00
R0607:Celsr2 UTSW 3 108,403,895 (GRCm38) critical splice donor site probably null
R0662:Celsr2 UTSW 3 108,398,520 (GRCm38) missense probably damaging 0.99
R0690:Celsr2 UTSW 3 108,414,977 (GRCm38) missense probably damaging 1.00
R0691:Celsr2 UTSW 3 108,412,623 (GRCm38) missense probably damaging 1.00
R0710:Celsr2 UTSW 3 108,412,712 (GRCm38) missense probably benign 0.42
R0730:Celsr2 UTSW 3 108,398,606 (GRCm38) missense probably damaging 1.00
R0815:Celsr2 UTSW 3 108,401,301 (GRCm38) missense possibly damaging 0.56
R0848:Celsr2 UTSW 3 108,414,338 (GRCm38) missense probably benign
R0989:Celsr2 UTSW 3 108,403,272 (GRCm38) missense probably benign 0.00
R1185:Celsr2 UTSW 3 108,399,709 (GRCm38) missense possibly damaging 0.95
R1185:Celsr2 UTSW 3 108,399,709 (GRCm38) missense possibly damaging 0.95
R1185:Celsr2 UTSW 3 108,399,709 (GRCm38) missense possibly damaging 0.95
R1469:Celsr2 UTSW 3 108,414,108 (GRCm38) missense probably damaging 1.00
R1469:Celsr2 UTSW 3 108,414,108 (GRCm38) missense probably damaging 1.00
R1474:Celsr2 UTSW 3 108,393,739 (GRCm38) missense possibly damaging 0.91
R1608:Celsr2 UTSW 3 108,402,483 (GRCm38) missense probably damaging 1.00
R1653:Celsr2 UTSW 3 108,413,520 (GRCm38) missense possibly damaging 0.52
R1659:Celsr2 UTSW 3 108,414,095 (GRCm38) missense probably benign
R1689:Celsr2 UTSW 3 108,407,304 (GRCm38) missense possibly damaging 0.63
R1848:Celsr2 UTSW 3 108,401,310 (GRCm38) missense probably benign 0.35
R1859:Celsr2 UTSW 3 108,396,630 (GRCm38) missense probably damaging 1.00
R1918:Celsr2 UTSW 3 108,398,650 (GRCm38) missense probably benign 0.05
R1974:Celsr2 UTSW 3 108,414,214 (GRCm38) missense probably damaging 1.00
R2042:Celsr2 UTSW 3 108,402,495 (GRCm38) missense probably damaging 0.98
R2167:Celsr2 UTSW 3 108,413,193 (GRCm38) missense probably damaging 0.96
R2333:Celsr2 UTSW 3 108,398,605 (GRCm38) missense probably benign 0.16
R2434:Celsr2 UTSW 3 108,404,479 (GRCm38) missense probably damaging 1.00
R2504:Celsr2 UTSW 3 108,413,591 (GRCm38) missense probably benign 0.11
R3420:Celsr2 UTSW 3 108,414,416 (GRCm38) missense probably benign 0.03
R3712:Celsr2 UTSW 3 108,400,839 (GRCm38) missense probably benign
R3723:Celsr2 UTSW 3 108,397,415 (GRCm38) splice site probably benign
R3809:Celsr2 UTSW 3 108,403,239 (GRCm38) missense possibly damaging 0.67
R4018:Celsr2 UTSW 3 108,394,965 (GRCm38) missense possibly damaging 0.92
R4126:Celsr2 UTSW 3 108,402,097 (GRCm38) missense possibly damaging 0.71
R4177:Celsr2 UTSW 3 108,413,978 (GRCm38) missense probably damaging 0.96
R4232:Celsr2 UTSW 3 108,413,772 (GRCm38) missense probably benign 0.02
R4293:Celsr2 UTSW 3 108,393,677 (GRCm38) missense probably benign 0.01
R4458:Celsr2 UTSW 3 108,394,997 (GRCm38) missense probably damaging 0.98
R4621:Celsr2 UTSW 3 108,395,216 (GRCm38) missense possibly damaging 0.86
R4645:Celsr2 UTSW 3 108,395,969 (GRCm38) missense probably damaging 1.00
R4700:Celsr2 UTSW 3 108,397,231 (GRCm38) missense probably benign 0.24
R4732:Celsr2 UTSW 3 108,398,952 (GRCm38) missense probably damaging 0.99
R4733:Celsr2 UTSW 3 108,398,952 (GRCm38) missense probably damaging 0.99
R4901:Celsr2 UTSW 3 108,406,987 (GRCm38) missense possibly damaging 0.81
R4932:Celsr2 UTSW 3 108,402,758 (GRCm38) missense probably damaging 1.00
R4989:Celsr2 UTSW 3 108,412,629 (GRCm38) missense possibly damaging 0.62
R5052:Celsr2 UTSW 3 108,412,358 (GRCm38) missense probably damaging 1.00
R5093:Celsr2 UTSW 3 108,413,373 (GRCm38) missense possibly damaging 0.66
R5114:Celsr2 UTSW 3 108,393,996 (GRCm38) missense probably benign 0.05
R5120:Celsr2 UTSW 3 108,393,120 (GRCm38) missense probably benign 0.02
R5135:Celsr2 UTSW 3 108,398,659 (GRCm38) missense probably damaging 1.00
R5247:Celsr2 UTSW 3 108,397,630 (GRCm38) missense probably benign 0.34
R5381:Celsr2 UTSW 3 108,402,757 (GRCm38) missense probably damaging 1.00
R5412:Celsr2 UTSW 3 108,399,995 (GRCm38) missense probably damaging 1.00
R5445:Celsr2 UTSW 3 108,392,658 (GRCm38) missense probably benign 0.01
R5528:Celsr2 UTSW 3 108,413,294 (GRCm38) missense probably damaging 1.00
R5598:Celsr2 UTSW 3 108,402,803 (GRCm38) missense possibly damaging 0.82
R5652:Celsr2 UTSW 3 108,396,735 (GRCm38) missense probably null 0.49
R5697:Celsr2 UTSW 3 108,403,921 (GRCm38) nonsense probably null
R5718:Celsr2 UTSW 3 108,393,358 (GRCm38) missense probably benign
R5869:Celsr2 UTSW 3 108,413,909 (GRCm38) missense probably damaging 1.00
R5876:Celsr2 UTSW 3 108,413,943 (GRCm38) missense probably damaging 0.96
R6021:Celsr2 UTSW 3 108,401,245 (GRCm38) missense probably benign
R6054:Celsr2 UTSW 3 108,406,963 (GRCm38) missense possibly damaging 0.95
R6244:Celsr2 UTSW 3 108,393,128 (GRCm38) missense probably damaging 0.96
R6313:Celsr2 UTSW 3 108,401,214 (GRCm38) missense probably damaging 0.99
R6322:Celsr2 UTSW 3 108,412,574 (GRCm38) missense probably damaging 1.00
R6555:Celsr2 UTSW 3 108,394,919 (GRCm38) missense probably damaging 1.00
R6682:Celsr2 UTSW 3 108,400,501 (GRCm38) critical splice donor site probably null
R7062:Celsr2 UTSW 3 108,402,510 (GRCm38) missense possibly damaging 0.95
R7110:Celsr2 UTSW 3 108,397,865 (GRCm38) missense probably damaging 1.00
R7139:Celsr2 UTSW 3 108,415,359 (GRCm38) missense unknown
R7326:Celsr2 UTSW 3 108,394,995 (GRCm38) missense possibly damaging 0.85
R7425:Celsr2 UTSW 3 108,402,457 (GRCm38) missense probably damaging 1.00
R7452:Celsr2 UTSW 3 108,413,090 (GRCm38) missense possibly damaging 0.95
R7461:Celsr2 UTSW 3 108,395,640 (GRCm38) missense probably damaging 1.00
R7502:Celsr2 UTSW 3 108,398,902 (GRCm38) missense probably benign 0.00
R7613:Celsr2 UTSW 3 108,395,640 (GRCm38) missense probably damaging 1.00
R7644:Celsr2 UTSW 3 108,413,490 (GRCm38) missense probably damaging 0.99
R7666:Celsr2 UTSW 3 108,398,588 (GRCm38) missense probably benign
R7687:Celsr2 UTSW 3 108,397,769 (GRCm38) missense probably benign 0.27
R7695:Celsr2 UTSW 3 108,402,753 (GRCm38) missense probably damaging 1.00
R8002:Celsr2 UTSW 3 108,403,969 (GRCm38) missense probably damaging 1.00
R8052:Celsr2 UTSW 3 108,412,655 (GRCm38) missense probably damaging 1.00
R8283:Celsr2 UTSW 3 108,396,455 (GRCm38) missense probably damaging 1.00
R8356:Celsr2 UTSW 3 108,413,531 (GRCm38) missense possibly damaging 0.90
R8381:Celsr2 UTSW 3 108,395,636 (GRCm38) missense probably damaging 1.00
R8427:Celsr2 UTSW 3 108,392,633 (GRCm38) makesense probably null
R8435:Celsr2 UTSW 3 108,414,399 (GRCm38) missense probably benign
R8438:Celsr2 UTSW 3 108,393,823 (GRCm38) missense probably damaging 1.00
R8458:Celsr2 UTSW 3 108,398,902 (GRCm38) missense probably benign 0.00
R8460:Celsr2 UTSW 3 108,396,777 (GRCm38) missense possibly damaging 0.84
R8462:Celsr2 UTSW 3 108,412,851 (GRCm38) nonsense probably null
R8479:Celsr2 UTSW 3 108,398,902 (GRCm38) missense probably benign 0.00
R8480:Celsr2 UTSW 3 108,398,902 (GRCm38) missense probably benign 0.00
R8512:Celsr2 UTSW 3 108,413,838 (GRCm38) missense probably damaging 1.00
R8694:Celsr2 UTSW 3 108,406,860 (GRCm38) missense probably damaging 1.00
R8772:Celsr2 UTSW 3 108,397,073 (GRCm38) missense possibly damaging 0.84
R8843:Celsr2 UTSW 3 108,396,127 (GRCm38) splice site probably benign
R8888:Celsr2 UTSW 3 108,413,564 (GRCm38) missense possibly damaging 0.95
R8895:Celsr2 UTSW 3 108,413,564 (GRCm38) missense possibly damaging 0.95
R8917:Celsr2 UTSW 3 108,396,566 (GRCm38) missense probably benign 0.00
R9119:Celsr2 UTSW 3 108,401,972 (GRCm38) missense possibly damaging 0.90
R9169:Celsr2 UTSW 3 108,402,546 (GRCm38) missense probably benign 0.04
R9209:Celsr2 UTSW 3 108,414,033 (GRCm38) missense probably benign 0.02
R9342:Celsr2 UTSW 3 108,413,126 (GRCm38) missense probably damaging 1.00
R9416:Celsr2 UTSW 3 108,414,768 (GRCm38) missense probably damaging 0.96
R9493:Celsr2 UTSW 3 108,393,758 (GRCm38) missense probably damaging 1.00
R9564:Celsr2 UTSW 3 108,414,518 (GRCm38) missense probably damaging 1.00
R9598:Celsr2 UTSW 3 108,415,262 (GRCm38) missense possibly damaging 0.72
R9629:Celsr2 UTSW 3 108,401,599 (GRCm38) missense probably damaging 1.00
R9691:Celsr2 UTSW 3 108,394,235 (GRCm38) missense probably damaging 1.00
X0020:Celsr2 UTSW 3 108,396,110 (GRCm38) missense probably damaging 1.00
X0050:Celsr2 UTSW 3 108,401,272 (GRCm38) missense probably benign 0.09
Z1088:Celsr2 UTSW 3 108,414,117 (GRCm38) missense probably damaging 1.00
Z1176:Celsr2 UTSW 3 108,412,341 (GRCm38) missense probably benign 0.07
Z1176:Celsr2 UTSW 3 108,393,131 (GRCm38) missense probably benign 0.10
Z1177:Celsr2 UTSW 3 108,413,571 (GRCm38) missense probably benign 0.32
Z1177:Celsr2 UTSW 3 108,412,220 (GRCm38) missense probably damaging 1.00
Z1191:Celsr2 UTSW 3 108,414,549 (GRCm38) missense possibly damaging 0.68
Posted On 2013-11-11