Incidental Mutation 'R8393:Matn2'
| ID |
647493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Matn2
|
| Ensembl Gene |
ENSMUSG00000022324 |
| Gene Name |
matrilin 2 |
| Synonyms |
Crtm2 |
| MMRRC Submission |
067811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
34306827-34436388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34355748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 251
(H251R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022947]
[ENSMUST00000163455]
[ENSMUST00000179647]
[ENSMUST00000227759]
[ENSMUST00000227772]
[ENSMUST00000228570]
|
| AlphaFold |
O08746 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022947
AA Change: H251R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: H251R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
55 |
237 |
1.99e-49 |
SMART |
|
EGF
|
241 |
278 |
6.86e-4 |
SMART |
|
EGF
|
282 |
319 |
5.49e-3 |
SMART |
|
EGF
|
323 |
360 |
7.88e-4 |
SMART |
|
EGF
|
364 |
401 |
6.76e-3 |
SMART |
|
EGF
|
405 |
442 |
4.39e-2 |
SMART |
|
EGF
|
446 |
483 |
9.41e-2 |
SMART |
|
EGF
|
487 |
524 |
1.24e-1 |
SMART |
|
EGF
|
528 |
565 |
2.23e-3 |
SMART |
|
EGF
|
569 |
606 |
8.44e-4 |
SMART |
|
EGF
|
610 |
647 |
9.55e-3 |
SMART |
|
VWA
|
653 |
831 |
1.14e-49 |
SMART |
|
Matrilin_ccoil
|
889 |
935 |
4.78e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163455
AA Change: H251R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: H251R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
55 |
237 |
1.99e-49 |
SMART |
|
EGF
|
241 |
278 |
6.86e-4 |
SMART |
|
EGF
|
282 |
319 |
5.49e-3 |
SMART |
|
EGF
|
323 |
360 |
7.88e-4 |
SMART |
|
EGF
|
364 |
401 |
6.76e-3 |
SMART |
|
EGF
|
405 |
442 |
4.39e-2 |
SMART |
|
EGF
|
446 |
483 |
9.41e-2 |
SMART |
|
EGF
|
487 |
524 |
1.24e-1 |
SMART |
|
EGF
|
528 |
565 |
2.23e-3 |
SMART |
|
EGF
|
569 |
606 |
8.44e-4 |
SMART |
|
EGF
|
610 |
647 |
9.55e-3 |
SMART |
|
VWA
|
653 |
831 |
1.14e-49 |
SMART |
|
Matrilin_ccoil
|
908 |
955 |
7.77e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179647
AA Change: W35R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227759
AA Change: H251R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227772
AA Change: W35R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228570
AA Change: H251R
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no obvious abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,617,390 (GRCm39) |
T239A |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,582,477 (GRCm39) |
S258P |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,871,130 (GRCm39) |
D313E |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,770,650 (GRCm39) |
V448A |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,566 (GRCm39) |
V256A |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,222,465 (GRCm39) |
T742A |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,525,255 (GRCm39) |
R186L |
possibly damaging |
Het |
| Dazl |
A |
T |
17: 50,588,294 (GRCm39) |
S294T |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,947,855 (GRCm39) |
V2982F |
probably damaging |
Het |
| Enpp3 |
C |
A |
10: 24,702,139 (GRCm39) |
C71F |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,149 (GRCm39) |
C177R |
probably damaging |
Het |
| Fbxl5 |
A |
C |
5: 43,925,433 (GRCm39) |
Y186D |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,494 (GRCm39) |
T238A |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,806,815 (GRCm39) |
H2261R |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,183,207 (GRCm39) |
H148Y |
probably damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
A |
1: 43,071,395 (GRCm39) |
H13N |
probably benign |
Het |
| Irf4 |
A |
G |
13: 30,947,610 (GRCm39) |
D438G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,964 (GRCm39) |
V190A |
probably benign |
Het |
| Klre1 |
A |
T |
6: 129,557,025 (GRCm39) |
K42N |
probably damaging |
Het |
| Lmbrd2 |
C |
T |
15: 9,178,437 (GRCm39) |
T499M |
probably damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,398 (GRCm39) |
G345C |
probably damaging |
Het |
| Mpnd |
A |
G |
17: 56,323,568 (GRCm39) |
E477G |
probably damaging |
Het |
| Muc17 |
C |
T |
5: 137,171,179 (GRCm39) |
V151I |
|
Het |
| Nckap5l |
A |
C |
15: 99,325,050 (GRCm39) |
C484W |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,266 (GRCm39) |
S354N |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,261 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,342 (GRCm39) |
E112* |
probably null |
Het |
| Or52ab2 |
A |
T |
7: 102,969,668 (GRCm39) |
I17F |
|
Het |
| Or52e3 |
T |
C |
7: 102,869,399 (GRCm39) |
V158A |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,197 (GRCm39) |
L14P |
probably damaging |
Het |
| Or6c65 |
G |
T |
10: 129,604,304 (GRCm39) |
*313L |
probably null |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,435 (GRCm39) |
P372L |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,791,621 (GRCm39) |
N1103D |
probably damaging |
Het |
| Prelid2 |
C |
T |
18: 42,014,313 (GRCm39) |
C171Y |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,890 (GRCm39) |
Q229R |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,578,487 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,678,156 (GRCm39) |
H701Q |
possibly damaging |
Het |
| Resf1 |
A |
T |
6: 149,229,998 (GRCm39) |
T1015S |
possibly damaging |
Het |
| Rmdn2 |
T |
C |
17: 79,975,459 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
T |
16: 73,775,382 (GRCm39) |
W451R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,410,655 (GRCm39) |
M1K |
probably null |
Het |
| Senp2 |
G |
A |
16: 21,850,864 (GRCm39) |
G294R |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,650,180 (GRCm39) |
H478L |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,678,451 (GRCm39) |
A295E |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,319,698 (GRCm39) |
V606M |
probably damaging |
Het |
| Slc25a30 |
T |
C |
14: 76,012,451 (GRCm39) |
K66E |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,331 (GRCm39) |
E319G |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,422,360 (GRCm39) |
T617S |
probably benign |
Het |
| Speer4a3 |
A |
T |
5: 26,158,076 (GRCm39) |
V92E |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,676,615 (GRCm39) |
D652A |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,295,017 (GRCm39) |
M347T |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,911,191 (GRCm39) |
D1076V |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,651,648 (GRCm39) |
V288I |
probably benign |
Het |
| Usp30 |
C |
T |
5: 114,259,826 (GRCm39) |
R511* |
probably null |
Het |
| Vezt |
T |
C |
10: 93,832,704 (GRCm39) |
T236A |
probably damaging |
Het |
| Zmynd12 |
A |
T |
4: 119,305,352 (GRCm39) |
D264V |
probably damaging |
Het |
|
| Other mutations in Matn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Matn2
|
APN |
15 |
34,428,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00392:Matn2
|
APN |
15 |
34,403,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Matn2
|
APN |
15 |
34,316,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02223:Matn2
|
APN |
15 |
34,423,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02252:Matn2
|
APN |
15 |
34,316,736 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02288:Matn2
|
APN |
15 |
34,422,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Matn2
|
APN |
15 |
34,388,885 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02927:Matn2
|
APN |
15 |
34,355,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Matn2
|
APN |
15 |
34,345,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Engorged
|
UTSW |
15 |
34,426,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Matn2
|
UTSW |
15 |
34,428,877 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0124:Matn2
|
UTSW |
15 |
34,426,297 (GRCm39) |
splice site |
probably benign |
|
|
R0422:Matn2
|
UTSW |
15 |
34,435,917 (GRCm39) |
splice site |
probably null |
|
|
R0449:Matn2
|
UTSW |
15 |
34,428,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Matn2
|
UTSW |
15 |
34,345,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Matn2
|
UTSW |
15 |
34,345,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0885:Matn2
|
UTSW |
15 |
34,316,751 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1384:Matn2
|
UTSW |
15 |
34,409,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1603:Matn2
|
UTSW |
15 |
34,388,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Matn2
|
UTSW |
15 |
34,378,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1720:Matn2
|
UTSW |
15 |
34,345,420 (GRCm39) |
nonsense |
probably null |
|
|
R1772:Matn2
|
UTSW |
15 |
34,428,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2037:Matn2
|
UTSW |
15 |
34,433,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2107:Matn2
|
UTSW |
15 |
34,423,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Matn2
|
UTSW |
15 |
34,433,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Matn2
|
UTSW |
15 |
34,345,566 (GRCm39) |
splice site |
probably null |
|
|
R3963:Matn2
|
UTSW |
15 |
34,388,937 (GRCm39) |
nonsense |
probably null |
|
|
R4648:Matn2
|
UTSW |
15 |
34,428,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Matn2
|
UTSW |
15 |
34,403,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Matn2
|
UTSW |
15 |
34,423,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Matn2
|
UTSW |
15 |
34,428,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Matn2
|
UTSW |
15 |
34,355,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5177:Matn2
|
UTSW |
15 |
34,433,660 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5717:Matn2
|
UTSW |
15 |
34,399,237 (GRCm39) |
nonsense |
probably null |
|
|
R5760:Matn2
|
UTSW |
15 |
34,355,753 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5776:Matn2
|
UTSW |
15 |
34,431,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Matn2
|
UTSW |
15 |
34,399,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Matn2
|
UTSW |
15 |
34,409,912 (GRCm39) |
nonsense |
probably null |
|
|
R5964:Matn2
|
UTSW |
15 |
34,410,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Matn2
|
UTSW |
15 |
34,399,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Matn2
|
UTSW |
15 |
34,355,753 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6332:Matn2
|
UTSW |
15 |
34,423,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6457:Matn2
|
UTSW |
15 |
34,426,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Matn2
|
UTSW |
15 |
34,345,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7660:Matn2
|
UTSW |
15 |
34,423,874 (GRCm39) |
nonsense |
probably null |
|
|
R7660:Matn2
|
UTSW |
15 |
34,403,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Matn2
|
UTSW |
15 |
34,399,223 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7778:Matn2
|
UTSW |
15 |
34,399,223 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8007:Matn2
|
UTSW |
15 |
34,426,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8059:Matn2
|
UTSW |
15 |
34,345,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8174:Matn2
|
UTSW |
15 |
34,422,555 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8331:Matn2
|
UTSW |
15 |
34,428,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Matn2
|
UTSW |
15 |
34,378,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8377:Matn2
|
UTSW |
15 |
34,345,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8532:Matn2
|
UTSW |
15 |
34,316,699 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8555:Matn2
|
UTSW |
15 |
34,423,951 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8756:Matn2
|
UTSW |
15 |
34,423,876 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8973:Matn2
|
UTSW |
15 |
34,433,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9198:Matn2
|
UTSW |
15 |
34,423,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9220:Matn2
|
UTSW |
15 |
34,410,325 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9478:Matn2
|
UTSW |
15 |
34,345,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACGTCAGATTCTATCGC -3'
(R):5'- TTGCACAGTTGTCAAGTTGG -3'
Sequencing Primer
(F):5'- CAGATTCTATCGCTTTGGGTTCAAGC -3'
(R):5'- TGATCCGTGCTGAGAATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation