Incidental Mutation 'IGL02590:Mmrn2'
| ID |
299711 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmrn2
|
| Ensembl Gene |
ENSMUSG00000041445 |
| Gene Name |
multimerin 2 |
| Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 34121224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 698
(L698*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111908
AA Change: L698*
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: L698*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
55 |
127 |
1.1e-15 |
PFAM |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
362 |
N/A |
INTRINSIC |
|
coiled coil region
|
387 |
480 |
N/A |
INTRINSIC |
|
coiled coil region
|
533 |
583 |
N/A |
INTRINSIC |
|
coiled coil region
|
688 |
715 |
N/A |
INTRINSIC |
|
Pfam:C1q
|
821 |
940 |
1.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227130
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,404 (GRCm39) |
F118S |
probably damaging |
Het |
| Adam5 |
T |
G |
8: 25,234,151 (GRCm39) |
|
probably benign |
Het |
| Bok |
T |
C |
1: 93,614,397 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,508,235 (GRCm39) |
V585I |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,948 (GRCm39) |
V1346I |
probably benign |
Het |
| Cyb5a |
A |
T |
18: 84,889,732 (GRCm39) |
T54S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,162,937 (GRCm39) |
T428S |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,037,608 (GRCm39) |
Y262H |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,836,250 (GRCm39) |
I404F |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,037,222 (GRCm39) |
N237S |
probably benign |
Het |
| Gypc |
A |
G |
18: 32,663,060 (GRCm39) |
*96R |
probably null |
Het |
| Il15 |
T |
C |
8: 83,069,912 (GRCm39) |
I51V |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,395,347 (GRCm39) |
C483R |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,096,983 (GRCm39) |
D1272N |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,423,742 (GRCm39) |
T969K |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 146,993,810 (GRCm39) |
S261P |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,388,660 (GRCm39) |
G3263V |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 168,710,019 (GRCm39) |
E5G |
probably damaging |
Het |
| Myh14 |
T |
G |
7: 44,273,503 (GRCm39) |
Q1393P |
probably damaging |
Het |
| Ncoa7 |
C |
T |
10: 30,570,159 (GRCm39) |
E267K |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,491,517 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,305 (GRCm39) |
|
probably null |
Het |
| Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,041,752 (GRCm39) |
Y2128C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,784 (GRCm39) |
D293G |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,072,129 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
A |
T |
5: 36,362,397 (GRCm39) |
T330S |
probably benign |
Het |
| Rap1gap |
A |
G |
4: 137,447,611 (GRCm39) |
T453A |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,544,881 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,840,020 (GRCm39) |
E1590G |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,182 (GRCm39) |
I356T |
probably benign |
Het |
| Trav8d-2 |
T |
C |
14: 53,279,906 (GRCm39) |
S8P |
possibly damaging |
Het |
| Tyms |
C |
A |
5: 30,269,149 (GRCm39) |
V75L |
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,172 (GRCm39) |
S120R |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,227,356 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,138,041 (GRCm39) |
A388T |
possibly damaging |
Het |
|
| Other mutations in Mmrn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01523:Mmrn2
|
APN |
14 |
34,125,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02529:Mmrn2
|
APN |
14 |
34,120,570 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
P0037:Mmrn2
|
UTSW |
14 |
34,125,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Mmrn2
|
UTSW |
14 |
34,119,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0499:Mmrn2
|
UTSW |
14 |
34,119,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Mmrn2
|
UTSW |
14 |
34,118,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1422:Mmrn2
|
UTSW |
14 |
34,118,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Mmrn2
|
UTSW |
14 |
34,121,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1584:Mmrn2
|
UTSW |
14 |
34,097,642 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1702:Mmrn2
|
UTSW |
14 |
34,119,871 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1919:Mmrn2
|
UTSW |
14 |
34,119,600 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1961:Mmrn2
|
UTSW |
14 |
34,120,432 (GRCm39) |
splice site |
probably null |
|
|
R2267:Mmrn2
|
UTSW |
14 |
34,121,449 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2268:Mmrn2
|
UTSW |
14 |
34,121,449 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2516:Mmrn2
|
UTSW |
14 |
34,120,759 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2571:Mmrn2
|
UTSW |
14 |
34,124,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:Mmrn2
|
UTSW |
14 |
34,120,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Mmrn2
|
UTSW |
14 |
34,118,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2919:Mmrn2
|
UTSW |
14 |
34,124,879 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3611:Mmrn2
|
UTSW |
14 |
34,120,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3898:Mmrn2
|
UTSW |
14 |
34,121,517 (GRCm39) |
splice site |
probably null |
|
|
R3899:Mmrn2
|
UTSW |
14 |
34,121,517 (GRCm39) |
splice site |
probably null |
|
|
R3900:Mmrn2
|
UTSW |
14 |
34,121,517 (GRCm39) |
splice site |
probably null |
|
|
R4363:Mmrn2
|
UTSW |
14 |
34,119,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4392:Mmrn2
|
UTSW |
14 |
34,119,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Mmrn2
|
UTSW |
14 |
34,125,016 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4511:Mmrn2
|
UTSW |
14 |
34,125,016 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4993:Mmrn2
|
UTSW |
14 |
34,118,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Mmrn2
|
UTSW |
14 |
34,121,158 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5263:Mmrn2
|
UTSW |
14 |
34,121,541 (GRCm39) |
missense |
probably benign |
|
|
R5478:Mmrn2
|
UTSW |
14 |
34,118,539 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5606:Mmrn2
|
UTSW |
14 |
34,119,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Mmrn2
|
UTSW |
14 |
34,119,548 (GRCm39) |
nonsense |
probably null |
|
|
R6279:Mmrn2
|
UTSW |
14 |
34,119,614 (GRCm39) |
missense |
probably benign |
|
|
R6300:Mmrn2
|
UTSW |
14 |
34,119,614 (GRCm39) |
missense |
probably benign |
|
|
R6938:Mmrn2
|
UTSW |
14 |
34,120,671 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7491:Mmrn2
|
UTSW |
14 |
34,121,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Mmrn2
|
UTSW |
14 |
34,120,897 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7979:Mmrn2
|
UTSW |
14 |
34,118,138 (GRCm39) |
nonsense |
probably null |
|
|
R7999:Mmrn2
|
UTSW |
14 |
34,119,879 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8113:Mmrn2
|
UTSW |
14 |
34,119,593 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9063:Mmrn2
|
UTSW |
14 |
34,120,567 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9092:Mmrn2
|
UTSW |
14 |
34,118,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Mmrn2
|
UTSW |
14 |
34,121,158 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9327:Mmrn2
|
UTSW |
14 |
34,097,473 (GRCm39) |
unclassified |
probably benign |
|
|
R9476:Mmrn2
|
UTSW |
14 |
34,120,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9510:Mmrn2
|
UTSW |
14 |
34,120,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9606:Mmrn2
|
UTSW |
14 |
34,119,654 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0064:Mmrn2
|
UTSW |
14 |
34,121,109 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation