Incidental Mutation 'R3788:Crmp1'
ID 272368
Institutional Source Beutler Lab
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 # R3788 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 37399402-37449507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37441484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 522 (D522G)
Ref Sequence ENSEMBL: ENSMUSP00000109795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031004] [ENSMUST00000114154] [ENSMUST00000114158]
AlphaFold P97427
Predicted Effect probably damaging
Transcript: ENSMUST00000031004
AA Change: D408G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121
AA Change: D408G

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 benign
Transcript: ENSMUST00000114154
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122

DomainStartEndE-ValueType
low complexity region 272 295 N/A INTRINSIC
low complexity region 463 475 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
coiled coil region 517 548 N/A INTRINSIC
low complexity region 595 609 N/A INTRINSIC
coiled coil region 694 734 N/A INTRINSIC
low complexity region 750 767 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114158
AA Change: D522G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: D522G

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
Meta Mutation Damage Score 0.9702 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,846,561 (GRCm39) V26E possibly damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Akap13 G A 7: 75,351,901 (GRCm39) probably null Het
Aph1b T C 9: 66,701,348 (GRCm39) probably benign Het
Aspm C T 1: 139,390,941 (GRCm39) T742I probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Bltp2 T A 11: 78,179,123 (GRCm39) probably null Het
Cemip A T 7: 83,593,106 (GRCm39) L1199H probably damaging Het
Chd2 G A 7: 73,096,878 (GRCm39) probably benign Het
Clnk A G 5: 38,872,341 (GRCm39) Y310H probably damaging Het
Cyth3 A G 5: 143,622,298 (GRCm39) probably benign Het
Dcbld1 T A 10: 52,195,754 (GRCm39) Y392N probably damaging Het
Flnc T C 6: 29,454,056 (GRCm39) F1820L probably damaging Het
Galnt18 G A 7: 111,119,322 (GRCm39) R385* probably null Het
Gpatch3 C A 4: 133,302,479 (GRCm39) R137S possibly damaging Het
Gpc6 C T 14: 117,861,878 (GRCm39) P265S probably damaging Het
Harbi1 T A 2: 91,550,952 (GRCm39) D308E probably benign Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hk1 T C 10: 62,111,467 (GRCm39) K737E possibly damaging Het
Hnrnpr G A 4: 136,063,624 (GRCm39) V345M probably damaging Het
Ift56 T A 6: 38,380,459 (GRCm39) probably null Het
Kalrn T C 16: 34,040,610 (GRCm39) H944R probably damaging Het
Kdm2a A T 19: 4,401,833 (GRCm39) C207S probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt75 C T 15: 101,481,956 (GRCm39) G104D possibly damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Marchf10 T A 11: 105,287,905 (GRCm39) L132F probably damaging Het
Mfrp G A 9: 44,016,754 (GRCm39) W65* probably null Het
Mgat5 A G 1: 127,294,180 (GRCm39) D174G probably benign Het
Miga2 T A 2: 30,261,237 (GRCm39) Y177* probably null Het
Mroh3 T C 1: 136,113,213 (GRCm39) D747G probably damaging Het
Muc5b A G 7: 141,417,571 (GRCm39) T3506A possibly damaging Het
Myo7b G T 18: 32,107,165 (GRCm39) P1277T possibly damaging Het
Naaa C T 5: 92,420,413 (GRCm39) probably null Het
Ndufs2 T C 1: 171,062,889 (GRCm39) D410G possibly damaging Het
Or51a25 A G 7: 102,372,694 (GRCm39) probably null Het
Or5p78 T A 7: 108,212,280 (GRCm39) Y255* probably null Het
Or7e177 A G 9: 20,211,666 (GRCm39) I58V probably benign Het
Or8g35 A G 9: 39,381,365 (GRCm39) I219T probably benign Het
Osbp A T 19: 11,956,285 (GRCm39) Y409F probably benign Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Prkcg G A 7: 3,362,263 (GRCm39) D246N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sbf1 G A 15: 89,183,731 (GRCm39) R1261* probably null Het
Scn4a T C 11: 106,235,100 (GRCm39) N341S probably damaging Het
Sec61a2 C A 2: 5,884,436 (GRCm39) probably null Het
Sgcd T A 11: 47,246,032 (GRCm39) K57* probably null Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Slc12a5 T C 2: 164,835,695 (GRCm39) L861P probably damaging Het
Slc6a16 A G 7: 44,909,386 (GRCm39) D184G probably benign Het
Snx7 A G 3: 117,632,639 (GRCm39) probably benign Het
Sptbn2 A G 19: 4,795,950 (GRCm39) I1710V probably damaging Het
Sytl2 A T 7: 90,025,289 (GRCm39) I426F probably benign Het
Tdp1 A G 12: 99,858,011 (GRCm39) probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn T C 2: 76,775,618 (GRCm39) E1854G unknown Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r98 A T 17: 19,300,887 (GRCm39) T630S probably benign Het
Xrcc1 G C 7: 24,266,333 (GRCm39) A220P probably benign 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
IGL02946:Crmp1 APN 5 37,441,424 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGATTTCTCTCAAGGGTGACTG -3'
(R):5'- AGTCTCTCCAGTGTGAGCTG -3'

Sequencing Primer
(F):5'- CCATTTGTGTAGACGCCATTGGAAG -3'
(R):5'- CCAGTGTGAGCTGCTGGTG -3'
Posted On 2015-03-25