Incidental Mutation 'R0031:Ncdn'
ID15366
Institutional Source Beutler Lab
Gene Symbol Ncdn
Ensembl Gene ENSMUSG00000028833
Gene Nameneurochondrin
Synonymsnorbin, neurochondrin-1, neurochondrin-2
MMRRC Submission 038325-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0031 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location126743750-126753438 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 126750108 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030637] [ENSMUST00000047431] [ENSMUST00000102607] [ENSMUST00000102608] [ENSMUST00000106116] [ENSMUST00000132660] [ENSMUST00000148935] [ENSMUST00000154640]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030637
AA Change: L307Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833
AA Change: L307Q

DomainStartEndE-ValueType
Pfam:Neurochondrin 30 637 3e-209 PFAM
low complexity region 649 659 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000047431
SMART Domains Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
FN3 113 391 8.45e1 SMART
IG_like 305 398 3.57e1 SMART
PKD 309 400 3.1e-1 SMART
FN3 399 485 2.7e1 SMART
PKD 408 497 1.87e-4 SMART
FN3 502 676 4.47e1 SMART
PKD 503 593 3.22e-8 SMART
IG_like 508 591 1.17e1 SMART
IG_like 597 782 1.66e2 SMART
PKD 599 687 8.98e-7 SMART
PKD 693 784 1.05e-7 SMART
FN3 694 772 3.71e1 SMART
transmembrane domain 927 949 N/A INTRINSIC
low complexity region 995 1010 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102607
SMART Domains Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
FN3 113 391 8.45e1 SMART
IG_like 305 398 3.57e1 SMART
PKD 309 400 3.1e-1 SMART
FN3 399 485 2.7e1 SMART
PKD 408 497 1.87e-4 SMART
FN3 502 676 4.47e1 SMART
PKD 503 593 3.22e-8 SMART
IG_like 508 591 1.17e1 SMART
IG_like 597 782 1.66e2 SMART
PKD 599 687 8.98e-7 SMART
PKD 693 784 1.05e-7 SMART
FN3 694 772 3.71e1 SMART
transmembrane domain 927 949 N/A INTRINSIC
low complexity region 995 1010 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102608
SMART Domains Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
FN3 113 391 8.45e1 SMART
IG_like 305 398 3.57e1 SMART
PKD 309 400 3.1e-1 SMART
FN3 399 485 2.7e1 SMART
PKD 408 497 1.87e-4 SMART
FN3 502 676 4.47e1 SMART
PKD 503 593 3.22e-8 SMART
IG_like 508 591 1.17e1 SMART
IG_like 597 782 1.66e2 SMART
PKD 599 687 8.98e-7 SMART
PKD 693 784 1.05e-7 SMART
FN3 694 772 3.71e1 SMART
transmembrane domain 927 949 N/A INTRINSIC
low complexity region 995 1010 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106116
AA Change: L307Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833
AA Change: L307Q

DomainStartEndE-ValueType
Pfam:Neurochondrin 30 637 9.1e-217 PFAM
low complexity region 649 659 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131900
Predicted Effect probably null
Transcript: ENSMUST00000132660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136035
Predicted Effect probably null
Transcript: ENSMUST00000148935
Predicted Effect probably null
Transcript: ENSMUST00000154640
SMART Domains Protein: ENSMUSP00000122352
Gene: ENSMUSG00000028830

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
Meta Mutation Damage Score 0.5513 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene results in early embryonic lethality in the homozygous state and impaired chondrocyte proliferation and differentiation in the heterozygous state. Gene trap mutation resulted in lacrimal gland hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A T 4: 42,973,712 K1015M probably damaging Het
Abcb11 G A 2: 69,285,308 R571C probably damaging Het
Agr3 T C 12: 35,947,591 M100T probably benign Het
Ankrd7 T A 6: 18,870,008 Y253* probably null Het
Atp2c2 A T 8: 119,749,062 T565S probably benign Het
C330027C09Rik C T 16: 49,017,373 S812F probably benign Het
Ccdc88b G T 19: 6,853,783 S597Y possibly damaging Het
Celsr2 T C 3: 108,413,063 N811S probably damaging Het
Cep170 A T 1: 176,756,091 D907E probably damaging Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cmss1 T G 16: 57,311,249 probably null Het
Cobl T C 11: 12,254,945 T579A probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Csrp2 C T 10: 110,938,740 S172L probably benign Het
Fip1l1 T C 5: 74,557,109 S235P probably damaging Het
Gbgt1 T A 2: 28,498,450 probably benign Het
Gml2 T C 15: 74,824,276 I173T probably benign Het
Gucy2c T A 6: 136,697,999 I1005F probably damaging Het
Irak3 T A 10: 120,176,320 K88* probably null Het
Klc1 T C 12: 111,777,033 Y265H probably damaging Het
Lamb1 G A 12: 31,301,156 V754I probably benign Het
Lrguk A T 6: 34,043,496 Q58H probably damaging Het
Lyst A G 13: 13,708,156 D2902G probably benign Het
Mtpap T A 18: 4,383,244 I207N probably damaging Het
Nup160 A G 2: 90,717,587 probably null Het
Ormdl1 A G 1: 53,299,159 probably benign Het
Pde5a A G 3: 122,803,055 M432V probably benign Het
Pikfyve T A 1: 65,215,929 probably benign Het
Plcb2 A G 2: 118,715,461 V581A probably benign Het
Plpp6 T A 19: 28,964,843 N281K probably benign Het
Pwp1 T C 10: 85,885,896 I422T probably benign Het
Rims1 T C 1: 22,296,879 N1199S probably damaging Het
Sema3c T C 5: 17,694,728 L406P probably damaging Het
Senp6 C T 9: 80,126,243 P84L probably damaging Het
Setx A G 2: 29,176,929 I2361V probably benign Het
Slc25a12 C T 2: 71,333,614 V106M possibly damaging Het
Slc3a1 A G 17: 85,032,846 Y232C probably damaging Het
Taf1c A T 8: 119,599,090 C678S probably benign Het
Tcp11l2 G T 10: 84,591,140 C156F probably damaging Het
Tmem62 A G 2: 120,999,113 T316A probably benign Het
Ulk4 A G 9: 121,272,982 I10T probably damaging Het
Vps54 T C 11: 21,312,899 I824T probably damaging Het
Wdfy3 A T 5: 101,889,295 V2042E probably damaging Het
Wfdc6b A T 2: 164,613,859 E36V probably damaging Het
Xpc C T 6: 91,491,226 A860T probably benign Het
Other mutations in Ncdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ncdn APN 4 126747188 missense probably benign 0.00
R0135:Ncdn UTSW 4 126746669 missense probably benign 0.37
R0413:Ncdn UTSW 4 126750534 missense possibly damaging 0.52
R1404:Ncdn UTSW 4 126750040 missense probably benign 0.33
R1404:Ncdn UTSW 4 126750040 missense probably benign 0.33
R1486:Ncdn UTSW 4 126748598 missense probably damaging 1.00
R1533:Ncdn UTSW 4 126748698 nonsense probably null
R1785:Ncdn UTSW 4 126745273 critical splice acceptor site probably null
R1786:Ncdn UTSW 4 126745273 critical splice acceptor site probably null
R1789:Ncdn UTSW 4 126752003 missense probably damaging 1.00
R1791:Ncdn UTSW 4 126751939 critical splice donor site probably null
R3406:Ncdn UTSW 4 126748595 missense probably benign 0.09
R4547:Ncdn UTSW 4 126746674 missense probably damaging 1.00
R4863:Ncdn UTSW 4 126750423 missense probably damaging 1.00
R4916:Ncdn UTSW 4 126749938 missense possibly damaging 0.89
R4917:Ncdn UTSW 4 126749938 missense possibly damaging 0.89
R4918:Ncdn UTSW 4 126749938 missense possibly damaging 0.89
R5218:Ncdn UTSW 4 126750810 missense probably benign 0.13
R5356:Ncdn UTSW 4 126747228 missense probably damaging 1.00
R5617:Ncdn UTSW 4 126745047 missense probably damaging 0.99
R5718:Ncdn UTSW 4 126749950 nonsense probably null
R6057:Ncdn UTSW 4 126745031 missense probably benign 0.05
R6343:Ncdn UTSW 4 126747171 missense possibly damaging 0.74
R6986:Ncdn UTSW 4 126747229 missense probably damaging 1.00
R6988:Ncdn UTSW 4 126747189 missense probably benign 0.00
R8257:Ncdn UTSW 4 126749883 critical splice donor site probably null
R8279:Ncdn UTSW 4 126750406 missense probably benign 0.00
Z1176:Ncdn UTSW 4 126750151 missense probably damaging 1.00
Z1176:Ncdn UTSW 4 126750153 missense probably benign 0.05
Posted On2012-12-17