Incidental Mutation 'R9327:Mmrn2'
| ID |
706593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn2
|
| Ensembl Gene |
ENSMUSG00000041445 |
| Gene Name |
multimerin 2 |
| Synonyms |
ENDOGLYX1, EndoGlyx-1, Emilin3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R9327 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 34097473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023826]
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023826
|
| SMART Domains |
Protein: ENSMUSP00000023826
Gene: ENSMUSG00000023064
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synuclein
|
1 |
123 |
6.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111908
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,895,499 (GRCm39) |
M194K |
probably benign |
Het |
| Abcg1 |
T |
C |
17: 31,333,122 (GRCm39) |
S622P |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,748,446 (GRCm39) |
V467E |
|
Het |
| Amdhd2 |
T |
C |
17: 24,377,421 (GRCm39) |
E164G |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,812,086 (GRCm39) |
|
probably null |
Het |
| Bank1 |
A |
T |
3: 135,799,308 (GRCm39) |
N545K |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,205,883 (GRCm39) |
I247T |
|
Het |
| Cep63 |
T |
C |
9: 102,467,723 (GRCm39) |
I548V |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,175,653 (GRCm39) |
D65G |
unknown |
Het |
| Cspg4b |
C |
A |
13: 113,453,710 (GRCm39) |
Q58K |
|
Het |
| Cyp2c50 |
A |
G |
19: 40,079,010 (GRCm39) |
N118D |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,510,184 (GRCm39) |
C1549Y |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 77,991,435 (GRCm39) |
E44G |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,361,529 (GRCm39) |
S520P |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,993,755 (GRCm39) |
E1042G |
probably benign |
Het |
| Fmod |
A |
T |
1: 133,968,589 (GRCm39) |
N210Y |
probably damaging |
Het |
| Fpr3 |
A |
G |
17: 18,191,713 (GRCm39) |
D328G |
probably damaging |
Het |
| Garem2 |
T |
G |
5: 30,321,989 (GRCm39) |
C783G |
probably benign |
Het |
| Gm10542 |
A |
G |
18: 44,337,689 (GRCm39) |
N56D |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,424 (GRCm39) |
N357K |
probably benign |
Het |
| Hr |
A |
G |
14: 70,805,228 (GRCm39) |
H990R |
possibly damaging |
Het |
| Il21r |
A |
G |
7: 125,226,163 (GRCm39) |
N53S |
unknown |
Het |
| Insrr |
C |
T |
3: 87,721,604 (GRCm39) |
T1170I |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,638,034 (GRCm39) |
M103V |
probably damaging |
Het |
| Izumo3 |
G |
T |
4: 92,035,050 (GRCm39) |
Q56K |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,146,084 (GRCm39) |
V324A |
probably damaging |
Het |
| Kcnj2 |
T |
A |
11: 110,963,719 (GRCm39) |
N370K |
probably benign |
Het |
| Klf16 |
G |
T |
10: 80,412,688 (GRCm39) |
S116* |
probably null |
Het |
| Mettl16 |
T |
C |
11: 74,696,089 (GRCm39) |
V310A |
probably benign |
Het |
| Misp3 |
G |
T |
8: 84,737,080 (GRCm39) |
Q105K |
unknown |
Het |
| Mtcl1 |
A |
G |
17: 66,645,130 (GRCm39) |
L1888P |
probably damaging |
Het |
| Muc5ac |
A |
C |
7: 141,365,429 (GRCm39) |
T1984P |
possibly damaging |
Het |
| Myo16 |
G |
T |
8: 10,489,705 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
T |
C |
9: 108,691,699 (GRCm39) |
I466T |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Npffr2 |
A |
G |
5: 89,730,661 (GRCm39) |
H197R |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,100 (GRCm39) |
M842L |
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,309,984 (GRCm39) |
A416T |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,597,687 (GRCm39) |
V5A |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,742 (GRCm39) |
I278V |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,019 (GRCm39) |
C97* |
probably null |
Het |
| Ppp1r15a |
C |
T |
7: 45,174,035 (GRCm39) |
A258T |
possibly damaging |
Het |
| Prss36 |
A |
T |
7: 127,532,570 (GRCm39) |
Y760* |
probably null |
Het |
| Psg26 |
T |
A |
7: 18,216,480 (GRCm39) |
T120S |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,878,977 (GRCm39) |
L908Q |
probably benign |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Slc25a44 |
A |
T |
3: 88,328,025 (GRCm39) |
H155Q |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,321,486 (GRCm39) |
T894A |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,574,149 (GRCm39) |
F39L |
probably damaging |
Het |
| Tmem181a |
G |
A |
17: 6,346,048 (GRCm39) |
V181M |
possibly damaging |
Het |
| Tmt1b |
A |
G |
10: 128,794,607 (GRCm39) |
M239T |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,896,004 (GRCm39) |
V947A |
possibly damaging |
Het |
| Txndc16 |
G |
A |
14: 45,379,448 (GRCm39) |
T663I |
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,532 (GRCm39) |
Y832C |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,841 (GRCm39) |
T143A |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,930,750 (GRCm39) |
N82D |
probably benign |
Het |
| Zfp318 |
T |
G |
17: 46,721,892 (GRCm39) |
F1298L |
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 |
|
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 |
|
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'- TCCTGGAGAAATAAGTTTAATGGGG -3'
(R):5'- ATGCCGGGCCTATTGAGATG -3'
Sequencing Primer
(F):5'- AATGGGGCCACCTTTATGTGTCTAC -3'
(R):5'- CCTATTGAGATGGGAGAACTTGGTAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation