Incidental Mutation 'R6474:Ppfia1'
| ID |
516733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfia1
|
| Ensembl Gene |
ENSMUSG00000037519 |
| Gene Name |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 |
| Synonyms |
Liprin-alpha1, liprin, C030014K08Rik |
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144030495-144107466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144059942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 623
(D623E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168134]
[ENSMUST00000182226]
|
| AlphaFold |
B2RXQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168134
AA Change: D598E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: D598E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
coiled coil region
|
36 |
137 |
N/A |
INTRINSIC |
|
coiled coil region
|
250 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
coiled coil region
|
621 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
799 |
N/A |
INTRINSIC |
|
SAM
|
884 |
953 |
5.22e-7 |
SMART |
|
low complexity region
|
954 |
966 |
N/A |
INTRINSIC |
|
SAM
|
999 |
1066 |
3.89e-6 |
SMART |
|
SAM
|
1087 |
1159 |
1.14e-7 |
SMART |
|
low complexity region
|
1207 |
1218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182226
AA Change: D623E
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: D623E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
coiled coil region
|
36 |
137 |
N/A |
INTRINSIC |
|
coiled coil region
|
250 |
389 |
N/A |
INTRINSIC |
|
coiled coil region
|
411 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
|
coiled coil region
|
646 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
824 |
N/A |
INTRINSIC |
|
SAM
|
909 |
978 |
5.22e-7 |
SMART |
|
low complexity region
|
979 |
991 |
N/A |
INTRINSIC |
|
SAM
|
1024 |
1091 |
3.89e-6 |
SMART |
|
SAM
|
1112 |
1184 |
1.14e-7 |
SMART |
|
low complexity region
|
1232 |
1243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182958
AA Change: D132E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183183
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
Het |
|
| Other mutations in Ppfia1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Ppfia1
|
APN |
7 |
144,035,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01771:Ppfia1
|
APN |
7 |
144,036,094 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02220:Ppfia1
|
APN |
7 |
144,035,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Ppfia1
|
APN |
7 |
144,067,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02752:Ppfia1
|
APN |
7 |
144,073,341 (GRCm39) |
missense |
probably benign |
|
|
PIT1430001:Ppfia1
|
UTSW |
7 |
144,052,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Ppfia1
|
UTSW |
7 |
144,058,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Ppfia1
|
UTSW |
7 |
144,036,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Ppfia1
|
UTSW |
7 |
144,038,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1836:Ppfia1
|
UTSW |
7 |
144,073,368 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1934:Ppfia1
|
UTSW |
7 |
144,058,847 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2195:Ppfia1
|
UTSW |
7 |
144,069,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3759:Ppfia1
|
UTSW |
7 |
144,069,739 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3843:Ppfia1
|
UTSW |
7 |
144,058,707 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4606:Ppfia1
|
UTSW |
7 |
144,038,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4820:Ppfia1
|
UTSW |
7 |
144,052,106 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4898:Ppfia1
|
UTSW |
7 |
144,045,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Ppfia1
|
UTSW |
7 |
144,068,210 (GRCm39) |
nonsense |
probably null |
|
|
R5070:Ppfia1
|
UTSW |
7 |
144,068,210 (GRCm39) |
nonsense |
probably null |
|
|
R5076:Ppfia1
|
UTSW |
7 |
144,060,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Ppfia1
|
UTSW |
7 |
144,038,832 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5473:Ppfia1
|
UTSW |
7 |
144,045,229 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5656:Ppfia1
|
UTSW |
7 |
144,073,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5818:Ppfia1
|
UTSW |
7 |
144,074,305 (GRCm39) |
intron |
probably benign |
|
|
R6104:Ppfia1
|
UTSW |
7 |
144,045,311 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6299:Ppfia1
|
UTSW |
7 |
144,064,049 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6705:Ppfia1
|
UTSW |
7 |
144,072,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6734:Ppfia1
|
UTSW |
7 |
144,032,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Ppfia1
|
UTSW |
7 |
144,106,210 (GRCm39) |
missense |
probably benign |
|
|
R7451:Ppfia1
|
UTSW |
7 |
144,061,947 (GRCm39) |
missense |
probably benign |
|
|
R7514:Ppfia1
|
UTSW |
7 |
144,071,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7552:Ppfia1
|
UTSW |
7 |
144,059,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7633:Ppfia1
|
UTSW |
7 |
144,106,173 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7886:Ppfia1
|
UTSW |
7 |
144,073,020 (GRCm39) |
missense |
probably benign |
|
|
R8038:Ppfia1
|
UTSW |
7 |
144,068,653 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8139:Ppfia1
|
UTSW |
7 |
144,074,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8266:Ppfia1
|
UTSW |
7 |
144,068,231 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8859:Ppfia1
|
UTSW |
7 |
144,032,762 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9621:Ppfia1
|
UTSW |
7 |
144,052,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Ppfia1
|
UTSW |
7 |
144,071,402 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTACAGCATCCTAGGCC -3'
(R):5'- TCTGATAGCAGCCTTTCCTG -3'
Sequencing Primer
(F):5'- CAGAGTTCTATGTAGCCAAGCTG -3'
(R):5'- GCCCTTAGGGTACTTGCTGTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation