Incidental Mutation 'R9606:Mmrn2'
| ID |
723895 |
| 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 # |
R9606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34097461-34126244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34119654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 211
(T211K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111908]
|
| AlphaFold |
A6H6E2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111908
AA Change: T211K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: T211K
| 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: 99.7%
- 20x: 99.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,706 (GRCm39) |
Y286C |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,587,455 (GRCm39) |
T1657A |
|
Het |
| Ccs |
A |
T |
19: 4,882,897 (GRCm39) |
D151E |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,509,133 (GRCm39) |
T295A |
|
Het |
| Chmp4c |
A |
T |
3: 10,432,222 (GRCm39) |
E44V |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,801,383 (GRCm39) |
K539* |
probably null |
Het |
| Dgkg |
T |
C |
16: 22,441,011 (GRCm39) |
M1V |
probably null |
Het |
| E2f2 |
T |
A |
4: 135,911,743 (GRCm39) |
Y251* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,093 (GRCm39) |
Y1416C |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,991 (GRCm39) |
S93P |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,989,786 (GRCm39) |
T2079I |
probably damaging |
Het |
| Igfl3 |
A |
C |
7: 17,913,920 (GRCm39) |
K90T |
possibly damaging |
Het |
| Lsamp |
A |
G |
16: 41,709,292 (GRCm39) |
D74G |
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,707,664 (GRCm39) |
V570D |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,517 (GRCm39) |
Y916F |
probably benign |
Het |
| Myo10 |
CAGGTATAAAG |
CAG |
15: 25,776,401 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,686 (GRCm39) |
C370S |
probably damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
T |
12: 44,609,240 (GRCm39) |
N455I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,229,029 (GRCm39) |
E836K |
probably benign |
Het |
| Or2t29 |
C |
T |
11: 58,433,753 (GRCm39) |
C196Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,943 (GRCm39) |
K79* |
probably null |
Het |
| Or6c216 |
A |
T |
10: 129,678,625 (GRCm39) |
C95* |
probably null |
Het |
| Or8b1d |
A |
G |
9: 38,558,620 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,901,717 (GRCm39) |
S287P |
probably damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,955,069 (GRCm39) |
T482S |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,445,893 (GRCm39) |
R676* |
probably null |
Het |
| Ppm1k |
T |
C |
6: 57,491,057 (GRCm39) |
Y286C |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,517,573 (GRCm39) |
N278D |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,783 (GRCm39) |
L221P |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,483,147 (GRCm39) |
T184I |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,591,172 (GRCm39) |
F232S |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,814,811 (GRCm39) |
N170S |
probably benign |
Het |
| Sox9 |
T |
A |
11: 112,673,416 (GRCm39) |
N2K |
probably damaging |
Het |
| Sp140l1 |
G |
C |
1: 85,075,344 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
T |
C |
5: 23,729,604 (GRCm39) |
E345G |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,487 (GRCm39) |
M291V |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,693 (GRCm39) |
N20S |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,914,578 (GRCm39) |
I1888S |
possibly damaging |
Het |
| Tsnaxip1 |
G |
A |
8: 106,566,685 (GRCm39) |
E174K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,140 (GRCm39) |
R2058Q |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ttyh2 |
T |
A |
11: 114,601,667 (GRCm39) |
D430E |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,245,020 (GRCm39) |
G1669R |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,491 (GRCm39) |
S490T |
probably damaging |
Het |
| Vmn1r86 |
T |
A |
7: 12,836,741 (GRCm39) |
D45V |
probably damaging |
Het |
| Wdr12 |
A |
G |
1: 60,127,226 (GRCm39) |
V143A |
possibly damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,274,989 (GRCm39) |
Y116* |
probably null |
Het |
| Zdbf2 |
C |
T |
1: 63,342,536 (GRCm39) |
T305I |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,007,802 (GRCm39) |
M244K |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,414,595 (GRCm39) |
V1241D |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,640 (GRCm39) |
Y554C |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,976,220 (GRCm39) |
S830P |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,834,776 (GRCm39) |
Y677C |
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 |
|
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 |
|
X0064:Mmrn2
|
UTSW |
14 |
34,121,109 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGACCTTGTGAGTTGGC -3'
(R):5'- GAAGTGTGCTTTCAGGAATGC -3'
Sequencing Primer
(F):5'- GACCTTGTGAGTTGGCCTTTAACAC -3'
(R):5'- CTTTCAGGAATGCATCAATATGGGGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation