Incidental Mutation 'IGL02231:Celsr3'
ID 285677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celsr3
Ensembl Gene ENSMUSG00000023473
Gene Name cadherin, EGF LAG seven-pass G-type receptor 3
Synonyms Fmi1, flamingo, Adgrc3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02231
Quality Score
Status
Chromosome 9
Chromosomal Location 108703519-108730168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108719709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2429 (V2429A)
Ref Sequence ENSEMBL: ENSMUSP00000024238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024238] [ENSMUST00000194079] [ENSMUST00000213524]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024238
AA Change: V2429A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024238
Gene: ENSMUSG00000023473
AA Change: V2429A

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 264 293 N/A INTRINSIC
CA 338 422 2.25e-27 SMART
CA 446 534 5.05e-30 SMART
CA 558 640 7.6e-25 SMART
CA 664 745 7.36e-32 SMART
CA 769 847 5.95e-18 SMART
CA 871 950 5.25e-28 SMART
CA 974 1056 2.67e-29 SMART
CA 1080 1158 1.18e-21 SMART
CA 1186 1262 3.2e-1 SMART
low complexity region 1328 1335 N/A INTRINSIC
low complexity region 1350 1360 N/A INTRINSIC
EGF 1369 1424 1.02e-2 SMART
EGF 1429 1464 3.23e0 SMART
EGF 1467 1503 8.78e-2 SMART
LamG 1524 1691 2.27e-35 SMART
EGF 1714 1747 4.22e-4 SMART
LamG 1774 1913 9.02e-21 SMART
EGF 1938 1971 2.43e-4 SMART
EGF 1973 2009 1.3e-4 SMART
EGF_Lam 2066 2111 5.08e-7 SMART
HormR 2114 2176 3.42e-21 SMART
Pfam:GAIN 2188 2441 1.1e-57 PFAM
GPS 2467 2520 7.92e-20 SMART
Pfam:7tm_2 2527 2758 1.5e-56 PFAM
low complexity region 2813 2829 N/A INTRINSIC
low complexity region 2882 2906 N/A INTRINSIC
low complexity region 3058 3072 N/A INTRINSIC
low complexity region 3149 3189 N/A INTRINSIC
low complexity region 3239 3261 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175326
Predicted Effect probably benign
Transcript: ENSMUST00000194079
SMART Domains Protein: ENSMUSP00000141789
Gene: ENSMUSG00000023473

DomainStartEndE-ValueType
Pfam:7tm_2 1 185 6.9e-45 PFAM
low complexity region 240 256 N/A INTRINSIC
low complexity region 309 333 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195857
Predicted Effect probably damaging
Transcript: ENSMUST00000213524
AA Change: V2436A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam T A 16: 52,094,413 (GRCm39) probably benign Het
Alox15 A C 11: 70,240,382 (GRCm39) D266E probably benign Het
Atcay A T 10: 81,046,382 (GRCm39) V314E probably damaging Het
Atp8b1 C T 18: 64,683,455 (GRCm39) G758R possibly damaging Het
Bltp2 G A 11: 78,170,722 (GRCm39) G1647D probably benign Het
Cacna2d4 T A 6: 119,254,869 (GRCm39) probably benign Het
Clspn T G 4: 126,453,021 (GRCm39) D11E probably damaging Het
Cnot3 A G 7: 3,661,209 (GRCm39) T573A probably benign Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Edem1 A G 6: 108,805,849 (GRCm39) D50G probably benign Het
Emilin3 G A 2: 160,750,435 (GRCm39) T438I probably damaging Het
Etfdh C T 3: 79,525,700 (GRCm39) V173I probably damaging Het
Fat2 T C 11: 55,171,918 (GRCm39) T2932A probably damaging Het
Fcrl1 G A 3: 87,292,469 (GRCm39) E154K possibly damaging Het
Fcrl1 A T 3: 87,292,470 (GRCm39) E154V probably damaging Het
G3bp1 T A 11: 55,386,273 (GRCm39) L244* probably null Het
Itgae A T 11: 72,981,448 (GRCm39) K2M possibly damaging Het
Kcnq2 T C 2: 180,723,508 (GRCm39) I654V probably benign Het
Ksr2 C T 5: 117,638,841 (GRCm39) R82C probably damaging Het
Lrig3 A T 10: 125,833,041 (GRCm39) D305V probably damaging Het
Me1 T C 9: 86,493,908 (GRCm39) K322E possibly damaging Het
Med12l T A 3: 59,153,303 (GRCm39) D1109E probably damaging Het
Mest A G 6: 30,740,772 (GRCm39) K73E possibly damaging Het
Nup155 T G 15: 8,173,548 (GRCm39) L881R probably damaging Het
Ocln A T 13: 100,677,622 (GRCm39) S2T probably damaging Het
Oosp3 T C 19: 11,676,803 (GRCm39) L54S probably damaging Het
Pkp3 G A 7: 140,664,151 (GRCm39) E443K probably damaging Het
Plk2 T A 13: 110,536,603 (GRCm39) C632S probably benign Het
Ptk6 C T 2: 180,838,794 (GRCm39) V320I probably damaging Het
Ptprt A T 2: 162,079,980 (GRCm39) I273N probably damaging Het
Ptprt A G 2: 162,119,966 (GRCm39) probably null Het
Rab3gap2 T C 1: 184,999,095 (GRCm39) probably benign Het
Rabgef1 G A 5: 130,240,816 (GRCm39) A312T probably damaging Het
Rabl6 T A 2: 25,488,196 (GRCm39) K109N probably benign Het
Rbp7 C T 4: 149,539,334 (GRCm39) probably null Het
Reg3a C T 6: 78,359,224 (GRCm39) H75Y possibly damaging Het
Rnf123 G T 9: 107,943,598 (GRCm39) P546T probably benign Het
Rnmt C A 18: 68,447,152 (GRCm39) C345* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc14a2 C T 18: 78,252,236 (GRCm39) S25N possibly damaging Het
Spata16 G T 3: 26,967,413 (GRCm39) G388W probably damaging Het
Speg C T 1: 75,400,031 (GRCm39) R2493W probably damaging Het
Thada T A 17: 84,736,125 (GRCm39) D970V probably damaging Het
Tmem184c A G 8: 78,331,441 (GRCm39) Y103H probably damaging Het
Ttn A T 2: 76,628,440 (GRCm39) D12827E probably damaging Het
Utp20 A G 10: 88,627,030 (GRCm39) L976S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp936 T A 7: 42,836,909 (GRCm39) probably null Het
Other mutations in Celsr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Celsr3 APN 9 108,726,124 (GRCm39) missense probably damaging 1.00
IGL00536:Celsr3 APN 9 108,706,391 (GRCm39) missense probably benign 0.33
IGL00552:Celsr3 APN 9 108,718,462 (GRCm39) missense possibly damaging 0.88
IGL00801:Celsr3 APN 9 108,719,775 (GRCm39) missense probably benign
IGL01420:Celsr3 APN 9 108,718,389 (GRCm39) critical splice acceptor site probably null
IGL01541:Celsr3 APN 9 108,708,907 (GRCm39) missense probably damaging 1.00
IGL01619:Celsr3 APN 9 108,711,756 (GRCm39) missense probably damaging 1.00
IGL01619:Celsr3 APN 9 108,714,603 (GRCm39) missense probably benign 0.00
IGL01631:Celsr3 APN 9 108,714,603 (GRCm39) missense probably benign 0.00
IGL01777:Celsr3 APN 9 108,713,141 (GRCm39) missense probably benign 0.08
IGL01938:Celsr3 APN 9 108,705,614 (GRCm39) missense probably benign 0.34
IGL02135:Celsr3 APN 9 108,704,755 (GRCm39) missense probably benign 0.11
IGL02234:Celsr3 APN 9 108,707,159 (GRCm39) missense probably benign
IGL02392:Celsr3 APN 9 108,711,920 (GRCm39) splice site probably benign
IGL02416:Celsr3 APN 9 108,709,318 (GRCm39) missense probably damaging 1.00
IGL02421:Celsr3 APN 9 108,717,662 (GRCm39) missense probably damaging 1.00
IGL02455:Celsr3 APN 9 108,720,092 (GRCm39) missense probably benign 0.15
IGL02798:Celsr3 APN 9 108,720,774 (GRCm39) missense probably damaging 1.00
IGL02939:Celsr3 APN 9 108,726,652 (GRCm39) missense probably damaging 1.00
IGL02947:Celsr3 APN 9 108,723,134 (GRCm39) missense probably benign 0.12
IGL02986:Celsr3 APN 9 108,718,454 (GRCm39) splice site probably null
IGL03089:Celsr3 APN 9 108,703,806 (GRCm39) missense probably benign 0.04
IGL03162:Celsr3 APN 9 108,719,757 (GRCm39) missense probably damaging 1.00
IGL03267:Celsr3 APN 9 108,713,724 (GRCm39) splice site probably benign
Diminishment UTSW 9 108,719,907 (GRCm39) intron probably benign
little_d UTSW 9 108,704,891 (GRCm39) missense probably damaging 0.98
nogal UTSW 9 108,713,037 (GRCm39) missense probably benign
F6893:Celsr3 UTSW 9 108,712,266 (GRCm39) missense probably benign 0.00
PIT4243001:Celsr3 UTSW 9 108,709,507 (GRCm39) missense probably benign 0.13
PIT4810001:Celsr3 UTSW 9 108,722,932 (GRCm39) missense probably damaging 1.00
R0110:Celsr3 UTSW 9 108,704,204 (GRCm39) missense possibly damaging 0.62
R0243:Celsr3 UTSW 9 108,720,923 (GRCm39) splice site probably benign
R0382:Celsr3 UTSW 9 108,706,417 (GRCm39) missense probably damaging 1.00
R0482:Celsr3 UTSW 9 108,706,272 (GRCm39) nonsense probably null
R0510:Celsr3 UTSW 9 108,704,204 (GRCm39) missense possibly damaging 0.62
R0630:Celsr3 UTSW 9 108,704,891 (GRCm39) missense probably damaging 0.98
R0656:Celsr3 UTSW 9 108,711,854 (GRCm39) missense possibly damaging 0.89
R0764:Celsr3 UTSW 9 108,705,017 (GRCm39) missense probably damaging 1.00
R0883:Celsr3 UTSW 9 108,719,832 (GRCm39) missense probably damaging 1.00
R0924:Celsr3 UTSW 9 108,723,224 (GRCm39) missense possibly damaging 0.78
R1015:Celsr3 UTSW 9 108,710,375 (GRCm39) missense probably benign 0.17
R1321:Celsr3 UTSW 9 108,713,069 (GRCm39) missense probably damaging 1.00
R1423:Celsr3 UTSW 9 108,704,104 (GRCm39) missense probably benign 0.00
R1497:Celsr3 UTSW 9 108,726,064 (GRCm39) missense probably benign 0.14
R1520:Celsr3 UTSW 9 108,725,857 (GRCm39) missense probably damaging 1.00
R1534:Celsr3 UTSW 9 108,726,083 (GRCm39) missense probably damaging 0.99
R1569:Celsr3 UTSW 9 108,706,267 (GRCm39) missense probably damaging 1.00
R1657:Celsr3 UTSW 9 108,720,151 (GRCm39) nonsense probably null
R1753:Celsr3 UTSW 9 108,709,056 (GRCm39) missense probably damaging 0.99
R1764:Celsr3 UTSW 9 108,706,157 (GRCm39) missense probably damaging 1.00
R1801:Celsr3 UTSW 9 108,711,825 (GRCm39) missense possibly damaging 0.88
R1838:Celsr3 UTSW 9 108,707,105 (GRCm39) missense probably benign
R1839:Celsr3 UTSW 9 108,707,105 (GRCm39) missense probably benign
R1874:Celsr3 UTSW 9 108,713,037 (GRCm39) missense probably benign
R1875:Celsr3 UTSW 9 108,713,037 (GRCm39) missense probably benign
R1953:Celsr3 UTSW 9 108,720,381 (GRCm39) missense probably benign 0.19
R1960:Celsr3 UTSW 9 108,723,016 (GRCm39) missense probably benign
R2113:Celsr3 UTSW 9 108,715,669 (GRCm39) missense probably damaging 1.00
R2290:Celsr3 UTSW 9 108,720,423 (GRCm39) missense probably damaging 1.00
R2369:Celsr3 UTSW 9 108,719,751 (GRCm39) missense probably benign
R2373:Celsr3 UTSW 9 108,719,751 (GRCm39) missense probably benign
R2374:Celsr3 UTSW 9 108,719,751 (GRCm39) missense probably benign
R2375:Celsr3 UTSW 9 108,719,751 (GRCm39) missense probably benign
R2844:Celsr3 UTSW 9 108,706,507 (GRCm39) missense probably damaging 1.00
R2968:Celsr3 UTSW 9 108,709,390 (GRCm39) missense probably damaging 1.00
R3103:Celsr3 UTSW 9 108,714,338 (GRCm39) missense probably benign 0.31
R3159:Celsr3 UTSW 9 108,704,909 (GRCm39) missense possibly damaging 0.94
R3791:Celsr3 UTSW 9 108,719,751 (GRCm39) missense probably benign
R4194:Celsr3 UTSW 9 108,720,501 (GRCm39) critical splice donor site probably null
R4329:Celsr3 UTSW 9 108,723,248 (GRCm39) missense probably benign 0.00
R4365:Celsr3 UTSW 9 108,707,046 (GRCm39) missense possibly damaging 0.47
R4419:Celsr3 UTSW 9 108,720,443 (GRCm39) missense possibly damaging 0.84
R4484:Celsr3 UTSW 9 108,723,262 (GRCm39) critical splice donor site probably null
R4582:Celsr3 UTSW 9 108,722,922 (GRCm39) missense probably damaging 1.00
R4681:Celsr3 UTSW 9 108,704,953 (GRCm39) missense possibly damaging 0.58
R4729:Celsr3 UTSW 9 108,724,851 (GRCm39) missense probably benign 0.05
R4881:Celsr3 UTSW 9 108,721,140 (GRCm39) missense probably damaging 1.00
R4893:Celsr3 UTSW 9 108,726,620 (GRCm39) missense probably damaging 1.00
R5183:Celsr3 UTSW 9 108,714,759 (GRCm39) missense probably damaging 0.99
R5207:Celsr3 UTSW 9 108,709,958 (GRCm39) missense probably benign 0.01
R5290:Celsr3 UTSW 9 108,720,357 (GRCm39) missense probably benign 0.01
R5327:Celsr3 UTSW 9 108,719,907 (GRCm39) intron probably benign
R5345:Celsr3 UTSW 9 108,709,323 (GRCm39) missense probably damaging 1.00
R5358:Celsr3 UTSW 9 108,709,224 (GRCm39) missense possibly damaging 0.96
R5396:Celsr3 UTSW 9 108,705,781 (GRCm39) missense probably damaging 1.00
R5414:Celsr3 UTSW 9 108,717,241 (GRCm39) missense possibly damaging 0.88
R5452:Celsr3 UTSW 9 108,721,233 (GRCm39) missense possibly damaging 0.68
R5467:Celsr3 UTSW 9 108,705,836 (GRCm39) missense probably damaging 1.00
R5479:Celsr3 UTSW 9 108,721,743 (GRCm39) critical splice donor site probably null
R5629:Celsr3 UTSW 9 108,726,266 (GRCm39) missense probably benign 0.41
R5637:Celsr3 UTSW 9 108,714,332 (GRCm39) missense probably damaging 1.00
R5652:Celsr3 UTSW 9 108,715,671 (GRCm39) missense probably benign 0.03
R5739:Celsr3 UTSW 9 108,704,357 (GRCm39) missense probably benign
R5785:Celsr3 UTSW 9 108,704,996 (GRCm39) missense probably damaging 1.00
R5877:Celsr3 UTSW 9 108,722,926 (GRCm39) missense probably damaging 0.98
R5961:Celsr3 UTSW 9 108,708,993 (GRCm39) missense probably damaging 1.00
R6046:Celsr3 UTSW 9 108,714,350 (GRCm39) missense probably benign 0.01
R6176:Celsr3 UTSW 9 108,705,554 (GRCm39) missense probably damaging 1.00
R6291:Celsr3 UTSW 9 108,706,041 (GRCm39) missense probably damaging 1.00
R6468:Celsr3 UTSW 9 108,712,989 (GRCm39) missense probably benign 0.08
R6481:Celsr3 UTSW 9 108,714,283 (GRCm39) missense possibly damaging 0.92
R6547:Celsr3 UTSW 9 108,706,327 (GRCm39) missense probably damaging 1.00
R6763:Celsr3 UTSW 9 108,704,549 (GRCm39) missense probably damaging 1.00
R6870:Celsr3 UTSW 9 108,706,390 (GRCm39) missense probably benign 0.02
R6977:Celsr3 UTSW 9 108,704,914 (GRCm39) missense probably benign
R7061:Celsr3 UTSW 9 108,724,793 (GRCm39) nonsense probably null
R7122:Celsr3 UTSW 9 108,705,766 (GRCm39) missense possibly damaging 0.90
R7156:Celsr3 UTSW 9 108,715,203 (GRCm39) missense possibly damaging 0.95
R7166:Celsr3 UTSW 9 108,720,150 (GRCm39) missense probably damaging 1.00
R7176:Celsr3 UTSW 9 108,722,961 (GRCm39) missense probably benign
R7213:Celsr3 UTSW 9 108,726,239 (GRCm39) missense probably damaging 0.98
R7314:Celsr3 UTSW 9 108,706,343 (GRCm39) missense probably damaging 1.00
R7478:Celsr3 UTSW 9 108,720,777 (GRCm39) missense probably benign 0.37
R7508:Celsr3 UTSW 9 108,713,821 (GRCm39) missense probably benign
R7554:Celsr3 UTSW 9 108,718,408 (GRCm39) missense probably benign
R7615:Celsr3 UTSW 9 108,714,851 (GRCm39) missense possibly damaging 0.75
R7653:Celsr3 UTSW 9 108,712,269 (GRCm39) nonsense probably null
R7747:Celsr3 UTSW 9 108,707,177 (GRCm39) missense possibly damaging 0.61
R7881:Celsr3 UTSW 9 108,705,271 (GRCm39) missense probably benign 0.28
R7935:Celsr3 UTSW 9 108,706,840 (GRCm39) missense probably benign 0.01
R7995:Celsr3 UTSW 9 108,722,282 (GRCm39) missense probably damaging 0.99
R8006:Celsr3 UTSW 9 108,706,306 (GRCm39) missense probably damaging 1.00
R8077:Celsr3 UTSW 9 108,705,530 (GRCm39) missense probably benign 0.15
R8284:Celsr3 UTSW 9 108,723,612 (GRCm39) missense probably damaging 0.99
R8291:Celsr3 UTSW 9 108,715,169 (GRCm39) missense probably damaging 1.00
R8322:Celsr3 UTSW 9 108,725,993 (GRCm39) missense probably damaging 1.00
R8334:Celsr3 UTSW 9 108,718,471 (GRCm39) frame shift probably null
R8337:Celsr3 UTSW 9 108,718,471 (GRCm39) frame shift probably null
R8338:Celsr3 UTSW 9 108,704,539 (GRCm39) nonsense probably null
R8353:Celsr3 UTSW 9 108,703,734 (GRCm39) missense probably benign 0.00
R8407:Celsr3 UTSW 9 108,706,256 (GRCm39) missense probably damaging 1.00
R8408:Celsr3 UTSW 9 108,708,988 (GRCm39) missense probably damaging 1.00
R8459:Celsr3 UTSW 9 108,706,829 (GRCm39) missense probably damaging 1.00
R8510:Celsr3 UTSW 9 108,715,319 (GRCm39) missense possibly damaging 0.93
R8713:Celsr3 UTSW 9 108,707,062 (GRCm39) missense probably benign
R8728:Celsr3 UTSW 9 108,723,940 (GRCm39) missense probably benign 0.24
R8829:Celsr3 UTSW 9 108,717,582 (GRCm39) missense probably benign
R8877:Celsr3 UTSW 9 108,706,877 (GRCm39) missense probably damaging 1.00
R8905:Celsr3 UTSW 9 108,718,501 (GRCm39) missense probably damaging 1.00
R9008:Celsr3 UTSW 9 108,706,151 (GRCm39) missense possibly damaging 0.94
R9072:Celsr3 UTSW 9 108,704,293 (GRCm39) missense probably benign
R9157:Celsr3 UTSW 9 108,707,185 (GRCm39) missense probably damaging 1.00
R9183:Celsr3 UTSW 9 108,706,595 (GRCm39) missense probably damaging 1.00
R9275:Celsr3 UTSW 9 108,715,689 (GRCm39) missense probably benign 0.27
R9361:Celsr3 UTSW 9 108,726,521 (GRCm39) missense probably damaging 1.00
R9382:Celsr3 UTSW 9 108,706,961 (GRCm39) missense possibly damaging 0.60
R9407:Celsr3 UTSW 9 108,723,596 (GRCm39) missense probably damaging 1.00
R9432:Celsr3 UTSW 9 108,726,032 (GRCm39) missense probably benign 0.00
R9607:Celsr3 UTSW 9 108,717,701 (GRCm39) critical splice donor site probably null
R9626:Celsr3 UTSW 9 108,726,521 (GRCm39) missense probably damaging 1.00
R9628:Celsr3 UTSW 9 108,703,559 (GRCm39) nonsense probably null
R9630:Celsr3 UTSW 9 108,704,296 (GRCm39) missense probably benign
R9645:Celsr3 UTSW 9 108,704,691 (GRCm39) nonsense probably null
R9683:Celsr3 UTSW 9 108,704,522 (GRCm39) missense probably damaging 1.00
R9794:Celsr3 UTSW 9 108,728,502 (GRCm39) missense probably benign 0.00
R9798:Celsr3 UTSW 9 108,705,794 (GRCm39) missense probably damaging 1.00
RF020:Celsr3 UTSW 9 108,726,256 (GRCm39) missense probably benign
X0018:Celsr3 UTSW 9 108,717,611 (GRCm39) missense probably benign 0.01
X0018:Celsr3 UTSW 9 108,704,977 (GRCm39) missense possibly damaging 0.65
X0026:Celsr3 UTSW 9 108,706,129 (GRCm39) missense probably damaging 0.99
Z1177:Celsr3 UTSW 9 108,703,676 (GRCm39) missense probably benign 0.34
Posted On 2015-04-16