Incidental Mutation 'R8333:Ecm2'
| ID |
644484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecm2
|
| Ensembl Gene |
ENSMUSG00000043631 |
| Gene Name |
extracellular matrix protein 2, female organ and adipocyte specific |
| Synonyms |
tenonectin, 9030618O22Rik |
| MMRRC Submission |
067861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R8333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49658286-49686265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49671859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 120
(L120P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
[ENSMUST00000051504]
|
| AlphaFold |
Q5FW85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051504
AA Change: L120P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: L120P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
VWC
|
98 |
152 |
1.37e-11 |
SMART |
|
coiled coil region
|
235 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
LRR
|
314 |
336 |
1.41e2 |
SMART |
|
LRR
|
337 |
362 |
1.76e-1 |
SMART |
|
LRR
|
363 |
386 |
5.41e0 |
SMART |
|
LRR
|
408 |
433 |
1.91e1 |
SMART |
|
LRR
|
434 |
457 |
4.98e-1 |
SMART |
|
LRR
|
459 |
478 |
8.03e1 |
SMART |
|
LRR
|
506 |
528 |
2.76e1 |
SMART |
|
LRR
|
529 |
549 |
1.19e2 |
SMART |
|
LRR
|
578 |
600 |
1.81e1 |
SMART |
|
LRR
|
601 |
624 |
9.48e0 |
SMART |
|
LRR
|
631 |
655 |
6.06e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
| BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
| Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
| Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
| Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,925,875 (GRCm39) |
V19E |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
| Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,585,790 (GRCm39) |
N387S |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
| Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
| Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
| Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
| Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
| Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,928 (GRCm39) |
Y317C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
| Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
| Usp33 |
C |
T |
3: 152,080,297 (GRCm39) |
P476L |
probably damaging |
Het |
| Wdr38 |
T |
C |
2: 38,889,361 (GRCm39) |
Y51H |
probably damaging |
Het |
|
| Other mutations in Ecm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00677:Ecm2
|
APN |
13 |
49,684,794 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01685:Ecm2
|
APN |
13 |
49,682,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Ecm2
|
APN |
13 |
49,671,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02108:Ecm2
|
APN |
13 |
49,671,920 (GRCm39) |
nonsense |
probably null |
|
|
IGL02138:Ecm2
|
APN |
13 |
49,676,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Ecm2
|
APN |
13 |
49,671,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03350:Ecm2
|
APN |
13 |
49,674,420 (GRCm39) |
missense |
probably benign |
|
|
R0049:Ecm2
|
UTSW |
13 |
49,677,922 (GRCm39) |
nonsense |
probably null |
|
|
R0049:Ecm2
|
UTSW |
13 |
49,677,922 (GRCm39) |
nonsense |
probably null |
|
|
R0627:Ecm2
|
UTSW |
13 |
49,674,559 (GRCm39) |
splice site |
probably benign |
|
|
R1515:Ecm2
|
UTSW |
13 |
49,671,808 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1864:Ecm2
|
UTSW |
13 |
49,683,621 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1865:Ecm2
|
UTSW |
13 |
49,683,621 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1991:Ecm2
|
UTSW |
13 |
49,683,732 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2103:Ecm2
|
UTSW |
13 |
49,683,732 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2181:Ecm2
|
UTSW |
13 |
49,683,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Ecm2
|
UTSW |
13 |
49,683,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Ecm2
|
UTSW |
13 |
49,683,605 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4856:Ecm2
|
UTSW |
13 |
49,676,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4867:Ecm2
|
UTSW |
13 |
49,684,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Ecm2
|
UTSW |
13 |
49,676,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5368:Ecm2
|
UTSW |
13 |
49,674,419 (GRCm39) |
missense |
probably benign |
|
|
R5420:Ecm2
|
UTSW |
13 |
49,681,210 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6084:Ecm2
|
UTSW |
13 |
49,668,570 (GRCm39) |
nonsense |
probably null |
|
|
R6244:Ecm2
|
UTSW |
13 |
49,683,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Ecm2
|
UTSW |
13 |
49,683,818 (GRCm39) |
nonsense |
probably null |
|
|
R6931:Ecm2
|
UTSW |
13 |
49,682,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Ecm2
|
UTSW |
13 |
49,674,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Ecm2
|
UTSW |
13 |
49,668,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7490:Ecm2
|
UTSW |
13 |
49,683,818 (GRCm39) |
nonsense |
probably null |
|
|
R8039:Ecm2
|
UTSW |
13 |
49,668,326 (GRCm39) |
missense |
probably benign |
|
|
R8131:Ecm2
|
UTSW |
13 |
49,671,940 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8345:Ecm2
|
UTSW |
13 |
49,674,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9042:Ecm2
|
UTSW |
13 |
49,682,439 (GRCm39) |
nonsense |
probably null |
|
|
R9286:Ecm2
|
UTSW |
13 |
49,683,696 (GRCm39) |
missense |
|
|
|
R9334:Ecm2
|
UTSW |
13 |
49,677,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9390:Ecm2
|
UTSW |
13 |
49,683,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9610:Ecm2
|
UTSW |
13 |
49,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Ecm2
|
UTSW |
13 |
49,668,518 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9611:Ecm2
|
UTSW |
13 |
49,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Ecm2
|
UTSW |
13 |
49,668,518 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCGGGGATTTGGATAATCTTG -3'
(R):5'- TACATTTAAGTGCCCTGATGACTAC -3'
Sequencing Primer
(F):5'- CTTTTAATCCTAGCACTCAGAAGGC -3'
(R):5'- ACCAGCATCAGAGCAGAT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation