Incidental Mutation 'R4392:Mmrn2'
| ID |
326433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn2
|
| Ensembl Gene |
ENSMUSG00000041445 |
| Gene Name |
multimerin 2 |
| Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34119573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 184
(L184H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111908
AA Change: L184H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: L184H
| 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 |
unknown
Transcript: ENSMUST00000227130
AA Change: L105H
|
| Meta Mutation Damage Score |
0.7344 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,822,435 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,259,034 (GRCm39) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,056,724 (GRCm39) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,518,169 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,758,335 (GRCm39) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,701,749 (GRCm39) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,168,064 (GRCm39) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,277,479 (GRCm39) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,842,179 (GRCm39) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,330,427 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,569,770 (GRCm39) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,700 (GRCm39) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,059,917 (GRCm39) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,375 (GRCm39) |
R1188H |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,196 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 101,995,076 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
G |
11: 30,893,697 (GRCm39) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,350,968 (GRCm39) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,870,382 (GRCm39) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,844,191 (GRCm39) |
S280P |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,068,002 (GRCm39) |
F467S |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,477,204 (GRCm39) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,289,483 (GRCm39) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ift56 |
A |
G |
6: 38,358,492 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,585,880 (GRCm39) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,069,630 (GRCm39) |
T413A |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,187,311 (GRCm39) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,707 (GRCm39) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm39) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,290,284 (GRCm39) |
Q212P |
probably damaging |
Het |
| Or4f7d-ps1 |
T |
C |
2: 111,674,690 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k15c |
A |
G |
14: 50,322,060 (GRCm39) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 45,934,548 (GRCm39) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,248,334 (GRCm39) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,670,490 (GRCm39) |
C25S |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,189,655 (GRCm39) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,765,399 (GRCm39) |
E557V |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,762 (GRCm39) |
P511L |
probably null |
Het |
| Sgpl1 |
A |
G |
10: 60,940,231 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 81,014,578 (GRCm39) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,117,896 (GRCm39) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,198 (GRCm39) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 122,895,817 (GRCm39) |
T631I |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,326 (GRCm39) |
Y457H |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,637,429 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,690,458 (GRCm39) |
W207R |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Usp2 |
A |
T |
9: 44,002,556 (GRCm39) |
H384L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,135 (GRCm39) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,739,461 (GRCm39) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,741,860 (GRCm39) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,707 (GRCm39) |
C419* |
probably null |
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 |
|
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'- TACATTCCAGCTTAGGAGGGG -3'
(R):5'- GCCAGGAAACTCTGCAACAG -3'
Sequencing Primer
(F):5'- TTAGGAGGGGCCAACGTACTTC -3'
(R):5'- GTTTCAGAAAAGCCTGCTGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation