Incidental Mutation 'R8245:Postn'
| ID |
640800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Postn
|
| Ensembl Gene |
ENSMUSG00000027750 |
| Gene Name |
periostin, osteoblast specific factor |
| Synonyms |
A630052E07Rik, peri, Periostin, Osf2, OSF-2 |
| MMRRC Submission |
067673-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54268530-54298458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54283468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 516
(S516C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073012]
[ENSMUST00000081564]
[ENSMUST00000107985]
[ENSMUST00000117373]
|
| AlphaFold |
Q62009 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073012
AA Change: S516C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: S516C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FAS1
|
135 |
235 |
7.81e-30 |
SMART |
|
FAS1
|
272 |
370 |
2.31e-32 |
SMART |
|
FAS1
|
406 |
497 |
2.43e-17 |
SMART |
|
FAS1
|
534 |
633 |
2.5e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081564
AA Change: S516C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: S516C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FAS1
|
135 |
235 |
7.81e-30 |
SMART |
|
FAS1
|
272 |
370 |
2.31e-32 |
SMART |
|
FAS1
|
406 |
497 |
2.43e-17 |
SMART |
|
FAS1
|
534 |
633 |
2.5e-28 |
SMART |
|
low complexity region
|
669 |
680 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107985
AA Change: S516C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: S516C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FAS1
|
135 |
235 |
7.81e-30 |
SMART |
|
FAS1
|
272 |
370 |
2.31e-32 |
SMART |
|
FAS1
|
406 |
497 |
2.43e-17 |
SMART |
|
FAS1
|
534 |
633 |
2.5e-28 |
SMART |
|
low complexity region
|
669 |
680 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117373
AA Change: S516C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: S516C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FAS1
|
135 |
235 |
7.81e-30 |
SMART |
|
FAS1
|
272 |
370 |
2.31e-32 |
SMART |
|
FAS1
|
406 |
497 |
2.43e-17 |
SMART |
|
FAS1
|
534 |
633 |
2.5e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143258
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,539,870 (GRCm39) |
|
probably null |
Het |
| Adam4 |
A |
T |
12: 81,466,657 (GRCm39) |
C655S |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,880,568 (GRCm39) |
D717A |
probably damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,019,262 (GRCm39) |
N30S |
possibly damaging |
Het |
| Bmp8b |
T |
C |
4: 123,008,532 (GRCm39) |
V166A |
probably benign |
Het |
| Bpifb9a |
G |
A |
2: 154,104,646 (GRCm39) |
G261R |
probably benign |
Het |
| Cdipt |
G |
T |
7: 126,578,732 (GRCm39) |
M174I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,419 (GRCm39) |
T1063A |
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,404 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,024,408 (GRCm39) |
S217P |
unknown |
Het |
| Cnot2 |
T |
A |
10: 116,346,294 (GRCm39) |
I103F |
probably benign |
Het |
| Col27a1 |
T |
G |
4: 63,144,040 (GRCm39) |
V576G |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,710 (GRCm39) |
H566Q |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,478,637 (GRCm39) |
C261S |
possibly damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,886,934 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,246,673 (GRCm39) |
F1293Y |
probably damaging |
Het |
| Fsip1 |
T |
A |
2: 118,075,359 (GRCm39) |
K218M |
unknown |
Het |
| Fsip2 |
G |
T |
2: 82,811,346 (GRCm39) |
S2555I |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,785 (GRCm39) |
K358E |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,598 (GRCm38) |
V1D |
noncoding transcript |
Het |
| H2-M10.6 |
T |
C |
17: 37,124,155 (GRCm39) |
|
probably null |
Het |
| Hand2 |
A |
G |
8: 57,774,994 (GRCm39) |
Y18C |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,895 (GRCm39) |
V607E |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,485 (GRCm39) |
R862* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,883 (GRCm39) |
D90G |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,633 (GRCm39) |
N280S |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itpr2 |
T |
A |
6: 146,274,604 (GRCm39) |
K859N |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,766,179 (GRCm39) |
A212D |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,162,229 (GRCm39) |
T322I |
unknown |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,648 (GRCm39) |
D71G |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,214,434 (GRCm39) |
S641T |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,863,080 (GRCm39) |
N37I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,913,066 (GRCm39) |
I271F |
|
Het |
| Or2ag16 |
T |
C |
7: 106,352,374 (GRCm39) |
T74A |
probably benign |
Het |
| Or4d2b |
G |
A |
11: 87,780,443 (GRCm39) |
S93F |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,975 (GRCm39) |
S247P |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,126 (GRCm39) |
Y168H |
probably benign |
Het |
| Or9g4b |
A |
G |
2: 85,616,119 (GRCm39) |
E88G |
probably benign |
Het |
| Oxa1l |
T |
C |
14: 54,605,274 (GRCm39) |
S317P |
probably damaging |
Het |
| Poglut2 |
A |
T |
1: 44,156,226 (GRCm39) |
H120Q |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,630,779 (GRCm39) |
R1213H |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,039,580 (GRCm39) |
T336A |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,285,256 (GRCm39) |
C585Y |
probably damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,350 (GRCm39) |
S276P |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCTGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,099,789 (GRCm39) |
L160P |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,492 (GRCm39) |
F419S |
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,811,946 (GRCm39) |
T808K |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,604,931 (GRCm39) |
N201K |
possibly damaging |
Het |
| Stat1 |
G |
A |
1: 52,194,178 (GRCm39) |
R704Q |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,331,303 (GRCm39) |
D2236G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,379,592 (GRCm39) |
Y944F |
|
Het |
| Tmem225 |
G |
T |
9: 40,061,955 (GRCm39) |
V190F |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,521,022 (GRCm39) |
V400D |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,022,712 (GRCm39) |
G971D |
probably damaging |
Het |
| Trh |
C |
T |
6: 92,220,050 (GRCm39) |
V89I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,717,205 (GRCm39) |
D404G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,204,645 (GRCm39) |
V990A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,396 (GRCm39) |
Y196N |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,936 (GRCm39) |
D557G |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
|
| Other mutations in Postn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Postn
|
APN |
3 |
54,281,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00567:Postn
|
APN |
3 |
54,291,944 (GRCm39) |
missense |
probably benign |
|
|
IGL00742:Postn
|
APN |
3 |
54,280,315 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00971:Postn
|
APN |
3 |
54,276,697 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01105:Postn
|
APN |
3 |
54,270,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01460:Postn
|
APN |
3 |
54,282,579 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01609:Postn
|
APN |
3 |
54,276,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01878:Postn
|
APN |
3 |
54,290,901 (GRCm39) |
splice site |
probably null |
|
|
IGL01885:Postn
|
APN |
3 |
54,283,455 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02040:Postn
|
APN |
3 |
54,270,110 (GRCm39) |
missense |
probably benign |
|
|
IGL02431:Postn
|
APN |
3 |
54,282,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02578:Postn
|
APN |
3 |
54,284,625 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02943:Postn
|
APN |
3 |
54,285,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03307:Postn
|
APN |
3 |
54,282,548 (GRCm39) |
missense |
probably benign |
0.32 |
|
sticklike
|
UTSW |
3 |
54,279,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Postn
|
UTSW |
3 |
54,290,902 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Postn
|
UTSW |
3 |
54,291,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0410:Postn
|
UTSW |
3 |
54,292,698 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0548:Postn
|
UTSW |
3 |
54,274,997 (GRCm39) |
nonsense |
probably null |
|
|
R0734:Postn
|
UTSW |
3 |
54,270,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Postn
|
UTSW |
3 |
54,283,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Postn
|
UTSW |
3 |
54,281,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Postn
|
UTSW |
3 |
54,292,708 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1938:Postn
|
UTSW |
3 |
54,285,033 (GRCm39) |
splice site |
probably null |
|
|
R2311:Postn
|
UTSW |
3 |
54,292,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2566:Postn
|
UTSW |
3 |
54,284,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2938:Postn
|
UTSW |
3 |
54,277,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Postn
|
UTSW |
3 |
54,283,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Postn
|
UTSW |
3 |
54,278,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Postn
|
UTSW |
3 |
54,284,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Postn
|
UTSW |
3 |
54,279,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Postn
|
UTSW |
3 |
54,282,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Postn
|
UTSW |
3 |
54,292,031 (GRCm39) |
intron |
probably benign |
|
|
R4952:Postn
|
UTSW |
3 |
54,297,736 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5303:Postn
|
UTSW |
3 |
54,285,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Postn
|
UTSW |
3 |
54,279,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Postn
|
UTSW |
3 |
54,279,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5914:Postn
|
UTSW |
3 |
54,281,221 (GRCm39) |
nonsense |
probably null |
|
|
R6032:Postn
|
UTSW |
3 |
54,284,137 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6032:Postn
|
UTSW |
3 |
54,284,137 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6101:Postn
|
UTSW |
3 |
54,279,641 (GRCm39) |
splice site |
probably null |
|
|
R6105:Postn
|
UTSW |
3 |
54,279,641 (GRCm39) |
splice site |
probably null |
|
|
R6334:Postn
|
UTSW |
3 |
54,292,703 (GRCm39) |
missense |
probably benign |
|
|
R7131:Postn
|
UTSW |
3 |
54,270,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Postn
|
UTSW |
3 |
54,277,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Postn
|
UTSW |
3 |
54,277,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Postn
|
UTSW |
3 |
54,270,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Postn
|
UTSW |
3 |
54,277,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Postn
|
UTSW |
3 |
54,296,760 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9221:Postn
|
UTSW |
3 |
54,282,515 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9301:Postn
|
UTSW |
3 |
54,292,659 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9313:Postn
|
UTSW |
3 |
54,273,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Postn
|
UTSW |
3 |
54,290,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
RF018:Postn
|
UTSW |
3 |
54,291,913 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0004:Postn
|
UTSW |
3 |
54,270,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Postn
|
UTSW |
3 |
54,278,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Postn
|
UTSW |
3 |
54,282,548 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTTTGTGTCACAGAAAATG -3'
(R):5'- TCAGAATCTGCCATTCACTGCC -3'
Sequencing Primer
(F):5'- CTTTTATAAGAAAAGCGAAGGTGGAG -3'
(R):5'- TGCCCCTCACCAATCAGAATCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation