Incidental Mutation 'IGL02946:Crmp1'
ID 364751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crmp1
Ensembl Gene ENSMUSG00000029121
Gene Name collapsin response mediator protein 1
Synonyms Ulip3, DRP-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # IGL02946
Quality Score
Status
Chromosome 5
Chromosomal Location 37399402-37449507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37441424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 502 (A502V)
Ref Sequence ENSEMBL: ENSMUSP00000109795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031004] [ENSMUST00000114158]
AlphaFold P97427
Predicted Effect probably damaging
Transcript: ENSMUST00000031004
AA Change: A388V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121
AA Change: A388V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 64 453 9.1e-35 PFAM
Pfam:Amidohydro_3 333 454 8.5e-10 PFAM
low complexity region 507 530 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114158
AA Change: A502V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: A502V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 178 567 5.2e-34 PFAM
Pfam:Amidohydro_3 448 568 2.8e-10 PFAM
low complexity region 621 644 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201765
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is part of the collapsin response mediator protein family. The family is comprised of five, homologous cytosolic phosphoproteins that are expressed in developing and adult nervous tissue and mediate signaling to transduce responses to extracellular cues. This protein is a Semaphorin 3A signaling molecule that regulates collapse of the growth cone. The growth cone mediates axonal pathfinding in neurons. This protein is reported to represent a new class of microtubule-associated proteins. In humans this protein is reported to inhibit cancer cell invasion. In mouse deficiency of this gene may be associated with impaired spatial memory performance. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Crmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Crmp1 APN 5 37,433,657 (GRCm39) missense probably damaging 0.99
IGL02506:Crmp1 APN 5 37,436,199 (GRCm39) splice site probably benign
IGL02904:Crmp1 APN 5 37,446,262 (GRCm39) missense possibly damaging 0.80
IGL02981:Crmp1 APN 5 37,443,770 (GRCm39) missense probably damaging 0.97
IGL03068:Crmp1 APN 5 37,422,633 (GRCm39) missense possibly damaging 0.69
R0049:Crmp1 UTSW 5 37,422,617 (GRCm39) missense possibly damaging 0.52
R0049:Crmp1 UTSW 5 37,422,617 (GRCm39) missense possibly damaging 0.52
R0105:Crmp1 UTSW 5 37,441,479 (GRCm39) missense probably damaging 1.00
R0105:Crmp1 UTSW 5 37,441,479 (GRCm39) missense probably damaging 1.00
R0331:Crmp1 UTSW 5 37,422,657 (GRCm39) missense possibly damaging 0.79
R1226:Crmp1 UTSW 5 37,430,778 (GRCm39) missense probably damaging 1.00
R1372:Crmp1 UTSW 5 37,446,155 (GRCm39) missense probably benign 0.14
R1651:Crmp1 UTSW 5 37,430,783 (GRCm39) missense probably damaging 0.97
R1653:Crmp1 UTSW 5 37,443,812 (GRCm39) missense probably damaging 1.00
R1951:Crmp1 UTSW 5 37,430,699 (GRCm39) missense possibly damaging 0.81
R1977:Crmp1 UTSW 5 37,433,627 (GRCm39) missense probably damaging 1.00
R2107:Crmp1 UTSW 5 37,399,838 (GRCm39) missense probably benign 0.04
R2295:Crmp1 UTSW 5 37,422,606 (GRCm39) missense probably benign
R2495:Crmp1 UTSW 5 37,403,441 (GRCm39) critical splice donor site probably null
R3417:Crmp1 UTSW 5 37,426,031 (GRCm39) missense possibly damaging 0.48
R3788:Crmp1 UTSW 5 37,441,484 (GRCm39) missense probably damaging 1.00
R4490:Crmp1 UTSW 5 37,433,675 (GRCm39) missense probably damaging 0.99
R5338:Crmp1 UTSW 5 37,437,018 (GRCm39) missense probably benign 0.16
R5592:Crmp1 UTSW 5 37,422,609 (GRCm39) missense probably benign 0.09
R5761:Crmp1 UTSW 5 37,440,212 (GRCm39) missense probably benign 0.15
R6243:Crmp1 UTSW 5 37,446,288 (GRCm39) missense probably damaging 1.00
R6726:Crmp1 UTSW 5 37,441,408 (GRCm39) missense probably benign 0.04
R6750:Crmp1 UTSW 5 37,422,666 (GRCm39) critical splice donor site probably null
R7013:Crmp1 UTSW 5 37,426,036 (GRCm39) splice site probably null
R7183:Crmp1 UTSW 5 37,446,161 (GRCm39) missense probably benign 0.01
R7360:Crmp1 UTSW 5 37,433,624 (GRCm39) missense possibly damaging 0.95
R7419:Crmp1 UTSW 5 37,436,229 (GRCm39) missense probably benign 0.03
R7792:Crmp1 UTSW 5 37,441,439 (GRCm39) missense probably damaging 1.00
R8427:Crmp1 UTSW 5 37,448,539 (GRCm39) missense probably damaging 1.00
R8479:Crmp1 UTSW 5 37,441,502 (GRCm39) missense possibly damaging 0.59
R8762:Crmp1 UTSW 5 37,441,440 (GRCm39) missense probably damaging 1.00
R8993:Crmp1 UTSW 5 37,399,490 (GRCm39) start codon destroyed probably null 0.68
R9027:Crmp1 UTSW 5 37,437,947 (GRCm39) nonsense probably null
R9477:Crmp1 UTSW 5 37,446,182 (GRCm39) missense probably damaging 1.00
R9778:Crmp1 UTSW 5 37,422,619 (GRCm39) missense probably benign 0.32
Z1177:Crmp1 UTSW 5 37,435,468 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18