Incidental Mutation 'IGL03267:Celsr3'
ID 415133
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 # IGL03267
Quality Score
Status
Chromosome 9
Chromosomal Location 108703519-108730168 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 108713724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024238] [ENSMUST00000192235] [ENSMUST00000213524]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024238
SMART Domains Protein: ENSMUSP00000024238
Gene: ENSMUSG00000023473

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 probably benign
Transcript: ENSMUST00000192235
SMART Domains Protein: ENSMUSP00000141429
Gene: ENSMUSG00000023473

DomainStartEndE-ValueType
low complexity region 67 74 N/A INTRINSIC
low complexity region 89 99 N/A INTRINSIC
EGF 108 163 4.9e-5 SMART
EGF 168 201 2.6e-6 SMART
EGF_like 208 239 1.6e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193726
Predicted Effect probably benign
Transcript: ENSMUST00000213524
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 C T 5: 121,775,412 (GRCm39) R430Q probably benign Het
Arfgef3 T A 10: 18,467,630 (GRCm39) I1857F probably damaging Het
Baat T A 4: 49,490,050 (GRCm39) M345L probably benign Het
Babam1 T G 8: 71,855,708 (GRCm39) probably null Het
Bbs7 A G 3: 36,627,654 (GRCm39) F711S probably damaging Het
Btrc A G 19: 45,507,262 (GRCm39) E458G probably damaging Het
Car6 T C 4: 150,280,503 (GRCm39) probably benign Het
Csn2 A G 5: 87,845,930 (GRCm39) V3A possibly damaging Het
Ddc T C 11: 11,826,303 (GRCm39) Y86C probably damaging Het
Dennd1b A T 1: 138,990,599 (GRCm39) R188* probably null Het
Dnah1 C A 14: 31,008,545 (GRCm39) A2046S probably benign Het
Duxf4 T C 10: 58,071,609 (GRCm39) T202A probably damaging Het
Eif2b4 A T 5: 31,350,003 (GRCm39) S20T possibly damaging Het
Etl4 T A 2: 20,789,993 (GRCm39) C916* probably null Het
Fam78a T C 2: 31,959,679 (GRCm39) I144V probably benign Het
Fcho1 A G 8: 72,164,943 (GRCm39) probably benign Het
Il9r T A 11: 32,141,778 (GRCm39) H320L possibly damaging Het
Kntc1 C T 5: 123,896,543 (GRCm39) T135M probably damaging Het
Lca5l T A 16: 95,960,983 (GRCm39) Q498L probably benign Het
Map4k3 T C 17: 80,971,457 (GRCm39) H70R probably damaging Het
Mrps26 A G 2: 130,406,856 (GRCm39) probably null Het
Or1j20 G T 2: 36,760,513 (GRCm39) A312S probably benign Het
Or4k5 A G 14: 50,386,304 (GRCm39) V9A probably damaging Het
Or8j3b A T 2: 86,204,978 (GRCm39) Y259* probably null Het
Pik3cg C A 12: 32,255,307 (GRCm39) G227C possibly damaging Het
Ptprn2 C T 12: 116,839,964 (GRCm39) Q496* probably null Het
Rif1 T G 2: 51,967,000 (GRCm39) N96K possibly damaging Het
Rreb1 A C 13: 38,116,169 (GRCm39) D1176A probably benign Het
Slc22a30 A G 19: 8,315,322 (GRCm39) I436T probably benign Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Spata31e5 G A 1: 28,816,202 (GRCm39) T610I probably damaging Het
Stab1 A G 14: 30,864,686 (GRCm39) C1950R probably damaging Het
Tns2 T C 15: 102,013,813 (GRCm39) probably null Het
Ttf2 G A 3: 100,852,120 (GRCm39) R1009* probably null Het
Wfdc16 A G 2: 164,480,462 (GRCm39) V11A possibly damaging Het
Zfp367 A G 13: 64,292,097 (GRCm39) probably benign Het
Zfp420 G A 7: 29,574,908 (GRCm39) R376H probably damaging 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
IGL02231:Celsr3 APN 9 108,719,709 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02