Incidental Mutation 'R9092:Mmrn2'
ID |
691088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn2
|
Ensembl Gene |
ENSMUSG00000041445 |
Gene Name |
multimerin 2 |
Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
MMRRC Submission |
068908-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R9092 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34118587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 158
(F158L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
AlphaFold |
A6H6E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111908
AA Change: F158L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107539 Gene: ENSMUSG00000041445 AA Change: F158L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
93% (56/60) |
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 |
Chl1 |
T |
C |
6: 103,645,815 (GRCm39) |
|
probably benign |
Het |
Crtc3 |
T |
C |
7: 80,239,628 (GRCm39) |
M575V |
probably benign |
Het |
Cux1 |
T |
A |
5: 136,514,671 (GRCm39) |
N22I |
probably damaging |
Het |
Dcun1d2 |
G |
A |
8: 13,307,935 (GRCm39) |
R248W |
probably damaging |
Het |
Dlc1 |
G |
T |
8: 37,199,860 (GRCm39) |
H7Q |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,307,004 (GRCm39) |
D30G |
probably benign |
Het |
Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
E2f7 |
T |
C |
10: 110,616,874 (GRCm39) |
S705P |
probably benign |
Het |
Ephb3 |
G |
A |
16: 21,041,214 (GRCm39) |
S977N |
probably benign |
Het |
F13a1 |
T |
G |
13: 37,089,993 (GRCm39) |
D448A |
probably benign |
Het |
Fam216b |
T |
C |
14: 78,322,537 (GRCm39) |
T56A |
possibly damaging |
Het |
Fcho2 |
T |
C |
13: 98,886,391 (GRCm39) |
T408A |
probably benign |
Het |
Flvcr1 |
A |
T |
1: 190,740,364 (GRCm39) |
V552E |
|
Het |
Gab3 |
CTT |
CTTGTT |
X: 74,043,612 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,602 (GRCm39) |
|
probably benign |
Het |
Galnt15 |
A |
G |
14: 31,780,196 (GRCm39) |
K622E |
probably benign |
Het |
Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
Gjb3 |
A |
AGATGCGCCCG |
4: 127,220,471 (GRCm39) |
|
probably null |
Het |
Gm5414 |
T |
G |
15: 101,536,345 (GRCm39) |
R93S |
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,318,241 (GRCm39) |
*87Q |
probably null |
Het |
Il7r |
T |
A |
15: 9,510,270 (GRCm39) |
H261L |
probably benign |
Het |
Itsn1 |
T |
A |
16: 91,609,002 (GRCm39) |
M250K |
possibly damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Liat1 |
A |
G |
11: 75,893,887 (GRCm39) |
D88G |
possibly damaging |
Het |
Lrrc47 |
C |
A |
4: 154,096,421 (GRCm39) |
T72K |
possibly damaging |
Het |
Map2k4 |
C |
A |
11: 65,581,599 (GRCm39) |
R371L |
probably benign |
Het |
Mtus1 |
A |
T |
8: 41,455,475 (GRCm39) |
L242Q |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,054,414 (GRCm39) |
|
probably null |
Het |
Noc3l |
T |
A |
19: 38,798,487 (GRCm39) |
K305I |
probably damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
Pam |
A |
G |
1: 97,791,976 (GRCm39) |
S482P |
probably benign |
Het |
Pax1 |
T |
G |
2: 147,204,287 (GRCm39) |
W23G |
unknown |
Het |
Pcdhgb1 |
T |
A |
18: 37,813,989 (GRCm39) |
V160D |
possibly damaging |
Het |
Pdzph1 |
T |
C |
17: 59,280,125 (GRCm39) |
D719G |
probably damaging |
Het |
Phlda1 |
T |
C |
10: 111,342,474 (GRCm39) |
L70S |
possibly damaging |
Het |
Pikfyve |
G |
A |
1: 65,283,559 (GRCm39) |
R732K |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,788,347 (GRCm39) |
V702F |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,632,586 (GRCm39) |
Y610H |
probably benign |
Het |
Pofut1 |
T |
G |
2: 153,101,508 (GRCm39) |
H87Q |
probably benign |
Het |
Runx2 |
C |
A |
17: 45,046,443 (GRCm39) |
D109Y |
probably damaging |
Het |
Serpina1b |
T |
A |
12: 103,696,540 (GRCm39) |
I290F |
probably benign |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,874,321 (GRCm39) |
N198S |
probably benign |
Het |
Slc27a6 |
C |
A |
18: 58,742,330 (GRCm39) |
R515S |
probably benign |
Het |
Sorbs3 |
C |
T |
14: 70,445,004 (GRCm39) |
V25I |
probably benign |
Het |
Speg |
A |
G |
1: 75,399,378 (GRCm39) |
E2275G |
probably benign |
Het |
Tmem161b |
C |
T |
13: 84,440,503 (GRCm39) |
T307I |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,678,581 (GRCm39) |
D361G |
probably damaging |
Het |
Tmprss11c |
T |
C |
5: 86,385,495 (GRCm39) |
T326A |
probably benign |
Het |
Tpbg |
T |
C |
9: 85,726,916 (GRCm39) |
V295A |
possibly damaging |
Het |
Ulk4 |
A |
T |
9: 120,903,003 (GRCm39) |
I1158N |
|
Het |
Utp20 |
C |
A |
10: 88,604,679 (GRCm39) |
A1739S |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
Vmn1r66 |
T |
A |
7: 10,008,110 (GRCm39) |
I308F |
possibly damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,809,807 (GRCm39) |
T198S |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,281,593 (GRCm39) |
I318T |
probably damaging |
Het |
Wdr11 |
T |
A |
7: 129,226,451 (GRCm39) |
W750R |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,031,648 (GRCm39) |
I764T |
probably benign |
Het |
Zfp708 |
C |
A |
13: 67,218,564 (GRCm39) |
D420Y |
probably 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 |
|
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 |
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'- ACTGCCAGGACCACAGTAAG -3'
(R):5'- GCAAAGTGGCAAAGTCAGCTC -3'
Sequencing Primer
(F):5'- GTAAGGCTCCCCAAAGCTTC -3'
(R):5'- GTGGCAAAGTCAGCTCTCCAAG -3'
|
Posted On |
2021-12-30 |