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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |