Incidental Mutation 'R1455:Mmrn2'
| ID |
161744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn2
|
| Ensembl Gene |
ENSMUSG00000041445 |
| Gene Name |
multimerin 2 |
| Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
| MMRRC Submission |
039510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R1455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34121089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 653
(I653T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111908
AA Change: I653T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: I653T
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,824 (GRCm39) |
N285D |
possibly damaging |
Het |
| Adam9 |
T |
G |
8: 25,483,125 (GRCm39) |
M227L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,585,471 (GRCm39) |
D21G |
probably damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,171,381 (GRCm39) |
A1387V |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,182,097 (GRCm39) |
V306E |
probably damaging |
Het |
| Brsk1 |
G |
A |
7: 4,707,250 (GRCm39) |
V268M |
probably damaging |
Het |
| Cfap300 |
T |
G |
9: 8,022,457 (GRCm39) |
N255T |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 122,989,758 (GRCm39) |
E133G |
possibly damaging |
Het |
| Col24a1 |
T |
A |
3: 145,166,593 (GRCm39) |
L1076H |
probably damaging |
Het |
| Ddah1 |
G |
T |
3: 145,594,864 (GRCm39) |
R208L |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,090,368 (GRCm39) |
N960S |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,859,796 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,052,292 (GRCm39) |
V293A |
possibly damaging |
Het |
| Gja3 |
A |
G |
14: 57,273,842 (GRCm39) |
Y177H |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,845 (GRCm39) |
|
probably null |
Het |
| Gprc5a |
G |
A |
6: 135,056,245 (GRCm39) |
V231I |
probably benign |
Het |
| Kdm4d |
C |
A |
9: 14,375,691 (GRCm39) |
A56S |
probably damaging |
Het |
| Lingo4 |
G |
A |
3: 94,306,699 (GRCm39) |
|
probably benign |
Het |
| Map6 |
A |
G |
7: 98,917,421 (GRCm39) |
T65A |
probably damaging |
Het |
| Ndufa12 |
A |
G |
10: 94,039,176 (GRCm39) |
T70A |
probably benign |
Het |
| Nfe2l3 |
C |
A |
6: 51,434,744 (GRCm39) |
P435T |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,174 (GRCm39) |
V412E |
possibly damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,205 (GRCm39) |
Y138* |
probably null |
Het |
| Or6aa1 |
A |
T |
7: 86,043,803 (GRCm39) |
F301Y |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,020,008 (GRCm39) |
F1344L |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,181,818 (GRCm39) |
V297A |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Pramel7 |
T |
C |
2: 87,320,067 (GRCm39) |
T409A |
probably benign |
Het |
| Proc |
C |
G |
18: 32,256,451 (GRCm39) |
M405I |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,117,274 (GRCm39) |
K744N |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,478 (GRCm39) |
I279F |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,129,822 (GRCm39) |
R568L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,309,997 (GRCm39) |
M1215K |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,732,083 (GRCm39) |
A1274T |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,179,406 (GRCm39) |
V1253A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,736,821 (GRCm39) |
I800V |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,248,013 (GRCm39) |
I1072T |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,315,835 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
A |
G |
7: 140,392,687 (GRCm39) |
V224A |
probably benign |
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 |
|
IGL02590:Mmrn2
|
APN |
14 |
34,121,224 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAGAGATACGCCTACTGCACG -3'
(R):5'- ACAGCACTGCCCAATCTGCTTGAC -3'
Sequencing Primer
(F):5'- TGCACGGCTCCTTCACAG -3'
(R):5'- TCTGCTTGACATCAGAACTCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation