Incidental Mutation 'R6131:Col25a1'
ID 487121
Institutional Source Beutler Lab
Gene Symbol Col25a1
Ensembl Gene ENSMUSG00000058897
Gene Name collagen, type XXV, alpha 1
Synonyms 2700062B08Rik
MMRRC Submission 044278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 129973992-130393533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 130329114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 337 (P337Q)
Ref Sequence ENSEMBL: ENSMUSP00000138875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080335] [ENSMUST00000106353] [ENSMUST00000183368]
AlphaFold Q99MQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000080335
AA Change: P337Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079210
Gene: ENSMUSG00000058897
AA Change: P337Q

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:Collagen 119 165 7e-9 PFAM
low complexity region 188 246 N/A INTRINSIC
low complexity region 275 288 N/A INTRINSIC
Pfam:Collagen 311 374 5.4e-11 PFAM
Pfam:Collagen 368 427 2e-9 PFAM
Pfam:Collagen 447 504 1.6e-10 PFAM
Pfam:Collagen 494 561 3.3e-8 PFAM
Pfam:Collagen 586 660 4.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106353
SMART Domains Protein: ENSMUSP00000101960
Gene: ENSMUSG00000058897

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:Collagen 119 174 1.7e-11 PFAM
Pfam:Collagen 183 244 6.2e-12 PFAM
Pfam:Collagen 233 297 7.5e-11 PFAM
Pfam:Collagen 294 345 1.8e-9 PFAM
Pfam:Collagen 343 399 1.1e-10 PFAM
Pfam:Collagen 419 475 1.9e-10 PFAM
low complexity region 490 525 N/A INTRINSIC
Pfam:Collagen 555 622 6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143830
Predicted Effect probably damaging
Transcript: ENSMUST00000183368
AA Change: P337Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138875
Gene: ENSMUSG00000058897
AA Change: P337Q

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:Collagen 119 165 6.8e-9 PFAM
low complexity region 188 246 N/A INTRINSIC
internal_repeat_2 249 294 2.8e-5 PROSPERO
internal_repeat_1 294 308 4.06e-8 PROSPERO
Pfam:Collagen 309 372 2.1e-11 PFAM
Pfam:Collagen 371 427 3.7e-10 PFAM
Pfam:Collagen 447 496 7.7e-10 PFAM
low complexity region 497 506 N/A INTRINSIC
low complexity region 514 527 N/A INTRINSIC
low complexity region 556 571 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196743
Meta Mutation Damage Score 0.0847 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, cyanosis and abnormal body curvature with apoptosis of phrenic nerve motor neurons and failure of diaphragm innervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V probably damaging Het
Other mutations in Col25a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Col25a1 APN 3 129,975,433 (GRCm39) splice site probably benign
IGL00570:Col25a1 APN 3 130,340,081 (GRCm39) splice site probably benign
IGL01651:Col25a1 APN 3 130,360,134 (GRCm39) missense probably benign 0.06
IGL02033:Col25a1 APN 3 130,182,597 (GRCm39) splice site probably benign
IGL02117:Col25a1 APN 3 130,313,422 (GRCm39) splice site probably benign
IGL02290:Col25a1 APN 3 130,313,460 (GRCm39) splice site probably benign
IGL03135:Col25a1 APN 3 130,323,332 (GRCm39) splice site probably benign
R0526:Col25a1 UTSW 3 130,270,043 (GRCm39) missense probably damaging 1.00
R0602:Col25a1 UTSW 3 130,369,063 (GRCm39) splice site probably null
R0670:Col25a1 UTSW 3 130,180,544 (GRCm39) missense possibly damaging 0.95
R0830:Col25a1 UTSW 3 130,378,375 (GRCm39) missense probably damaging 1.00
R1220:Col25a1 UTSW 3 130,182,574 (GRCm39) splice site probably benign
R1623:Col25a1 UTSW 3 130,343,699 (GRCm39) missense probably damaging 1.00
R1818:Col25a1 UTSW 3 130,379,386 (GRCm39) critical splice donor site probably null
R2142:Col25a1 UTSW 3 130,363,965 (GRCm39) missense probably damaging 1.00
R2190:Col25a1 UTSW 3 130,378,364 (GRCm39) missense probably damaging 1.00
R2901:Col25a1 UTSW 3 130,340,040 (GRCm39) missense probably damaging 1.00
R2902:Col25a1 UTSW 3 130,340,040 (GRCm39) missense probably damaging 1.00
R3703:Col25a1 UTSW 3 130,343,682 (GRCm39) splice site probably null
R3818:Col25a1 UTSW 3 130,343,720 (GRCm39) missense possibly damaging 0.88
R4726:Col25a1 UTSW 3 130,313,430 (GRCm39) missense possibly damaging 0.92
R4775:Col25a1 UTSW 3 129,976,468 (GRCm39) missense possibly damaging 0.96
R5036:Col25a1 UTSW 3 130,376,978 (GRCm39) splice site probably null
R5110:Col25a1 UTSW 3 130,378,374 (GRCm39) makesense probably null
R5501:Col25a1 UTSW 3 130,389,312 (GRCm39) missense probably benign 0.07
R5686:Col25a1 UTSW 3 130,357,803 (GRCm39) missense probably damaging 1.00
R5698:Col25a1 UTSW 3 130,272,632 (GRCm39) critical splice acceptor site probably null
R6142:Col25a1 UTSW 3 130,376,978 (GRCm39) splice site probably benign
R6549:Col25a1 UTSW 3 129,976,444 (GRCm39) missense probably benign
R6624:Col25a1 UTSW 3 130,360,100 (GRCm39) splice site probably null
R6898:Col25a1 UTSW 3 130,378,377 (GRCm39) critical splice donor site probably null
R7030:Col25a1 UTSW 3 130,272,671 (GRCm39) critical splice donor site probably null
R7114:Col25a1 UTSW 3 130,389,324 (GRCm39) missense probably benign 0.06
R7172:Col25a1 UTSW 3 130,363,981 (GRCm39) nonsense probably null
R7179:Col25a1 UTSW 3 130,323,768 (GRCm39) missense probably damaging 0.99
R7340:Col25a1 UTSW 3 130,340,006 (GRCm39) splice site probably null
R7488:Col25a1 UTSW 3 130,378,350 (GRCm39) missense probably damaging 1.00
R7699:Col25a1 UTSW 3 130,316,128 (GRCm39) critical splice donor site probably null
R7976:Col25a1 UTSW 3 130,290,075 (GRCm39) missense probably damaging 1.00
R8129:Col25a1 UTSW 3 130,290,050 (GRCm39) missense probably damaging 1.00
R8199:Col25a1 UTSW 3 130,345,628 (GRCm39) missense probably damaging 1.00
R8524:Col25a1 UTSW 3 130,342,873 (GRCm39) missense probably damaging 1.00
R8809:Col25a1 UTSW 3 130,354,466 (GRCm39) critical splice acceptor site probably null
R8973:Col25a1 UTSW 3 130,269,275 (GRCm39) missense unknown
R9059:Col25a1 UTSW 3 130,268,499 (GRCm39) missense unknown
X0028:Col25a1 UTSW 3 130,370,967 (GRCm39) missense possibly damaging 0.85
Z1176:Col25a1 UTSW 3 129,976,444 (GRCm39) frame shift probably null
Z1177:Col25a1 UTSW 3 130,316,110 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGAGTTGAGAGTGAACTG -3'
(R):5'- ACAGTCTAGATGGCAAAGGC -3'

Sequencing Primer
(F):5'- CTGAGCTGGGTAGTCTAATCAAAC -3'
(R):5'- GGCCAACTTTAAACACCCGTG -3'
Posted On 2017-10-10