Incidental Mutation 'R3899:Mmrn2'
| ID |
308897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn2
|
| Ensembl Gene |
ENSMUSG00000041445 |
| Gene Name |
multimerin 2 |
| Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
| MMRRC Submission |
040809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R3899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1632 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 34121517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111908
AA Change: D796Y
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: D796Y
| 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 null
Transcript: ENSMUST00000227130
|
| Meta Mutation Damage Score |
0.1138 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,399,157 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,605,345 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,526,389 (GRCm39) |
R327S |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,849 (GRCm39) |
I4273F |
possibly damaging |
Het |
| Ascl1 |
G |
T |
10: 87,328,435 (GRCm39) |
H172Q |
probably benign |
Het |
| Azi2 |
A |
G |
9: 117,876,571 (GRCm39) |
Y29C |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,981,589 (GRCm39) |
M355T |
probably benign |
Het |
| Brs3 |
G |
A |
X: 56,092,616 (GRCm39) |
V367M |
possibly damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,940,200 (GRCm39) |
D524G |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,015,177 (GRCm39) |
T138A |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,029,678 (GRCm39) |
Y518C |
probably damaging |
Het |
| Chek2 |
C |
T |
5: 111,013,479 (GRCm39) |
|
probably benign |
Het |
| Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
| Cntnap2 |
A |
T |
6: 45,968,837 (GRCm39) |
H193L |
probably benign |
Het |
| Crim1 |
C |
A |
17: 78,588,783 (GRCm39) |
T286N |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,929,023 (GRCm39) |
K307* |
probably null |
Het |
| Dbx2 |
T |
C |
15: 95,530,313 (GRCm39) |
D218G |
possibly damaging |
Het |
| Dclk1 |
G |
A |
3: 55,154,750 (GRCm39) |
R60Q |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,281,286 (GRCm39) |
W588R |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,000,725 (GRCm39) |
E554K |
probably damaging |
Het |
| Eya1 |
T |
C |
1: 14,340,971 (GRCm39) |
T139A |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,736 (GRCm39) |
Y292C |
unknown |
Het |
| Gli1 |
C |
T |
10: 127,172,535 (GRCm39) |
M202I |
possibly damaging |
Het |
| Gm973 |
T |
C |
1: 59,664,299 (GRCm39) |
Y634H |
probably benign |
Het |
| Gpr132 |
G |
T |
12: 112,815,728 (GRCm39) |
A366E |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
C |
T |
15: 65,902,372 (GRCm39) |
M201I |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,388,372 (GRCm39) |
V2351A |
unknown |
Het |
| Mtr |
A |
T |
13: 12,231,735 (GRCm39) |
N656K |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,536,166 (GRCm39) |
T517A |
probably benign |
Het |
| Osgep |
G |
C |
14: 51,162,200 (GRCm39) |
N12K |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,155 (GRCm39) |
C841S |
probably benign |
Het |
| Prdx3 |
T |
A |
19: 60,853,621 (GRCm39) |
T235S |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,628,635 (GRCm39) |
H608Y |
probably benign |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
| Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,954,655 (GRCm39) |
M170V |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,668,616 (GRCm39) |
V732A |
probably benign |
Het |
| Slc7a2 |
C |
T |
8: 41,358,590 (GRCm39) |
T311M |
possibly damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
G |
5: 37,614,498 (GRCm39) |
S337P |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
| Tmem45a |
T |
C |
16: 56,627,101 (GRCm39) |
E256G |
probably damaging |
Het |
| Tox4 |
T |
A |
14: 52,517,299 (GRCm39) |
Y10N |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,878,524 (GRCm39) |
M642V |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,257 (GRCm39) |
T508A |
probably damaging |
Het |
| Tut7 |
T |
A |
13: 59,937,069 (GRCm39) |
K791* |
probably null |
Het |
| Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
| Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,873 (GRCm39) |
I709T |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,158 (GRCm39) |
N207K |
possibly damaging |
Het |
| Zfp946 |
T |
G |
17: 22,673,531 (GRCm39) |
I95S |
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,622,371 (GRCm39) |
S599T |
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 |
|
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 |
|
|
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'- TGAAGACCTACACAGCATGCTC -3'
(R):5'- AGCCCTGAAGGTAGTAGTGGTG -3'
Sequencing Primer
(F):5'- TACACAGCATGCTCTTGGAC -3'
(R):5'- AGTAGTGGTGGCCAATGATCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation