Incidental Mutation 'R5606:Mmrn2'
| ID |
439308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn2
|
| Ensembl Gene |
ENSMUSG00000041445 |
| Gene Name |
multimerin 2 |
| Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
| MMRRC Submission |
043157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R5606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34119581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 187
(D187N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111908
AA Change: D187N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: D187N
| 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 damaging
Transcript: ENSMUST00000227130
AA Change: D108N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
A |
G |
19: 20,699,731 (GRCm39) |
S75P |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,751,907 (GRCm39) |
I711N |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
| Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
| Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
| Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
| Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
| Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
| Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
| Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
| Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
| Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
| Uox |
T |
A |
3: 146,316,057 (GRCm39) |
Y21* |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,927,523 (GRCm39) |
V410G |
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 |
|
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 |
|
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'- GGCTAAGGGCTTCTACATTCC -3'
(R):5'- TCTGCAACAGATACCATGTTTCAG -3'
Sequencing Primer
(F):5'- AAGGGCTTCTACATTCCAGCTTAGG -3'
(R):5'- GTTTCAGAAAAGCCTGCTGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation