Incidental Mutation 'R2965:Ppp4r4'
ID |
256035 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r4
|
Ensembl Gene |
ENSMUSG00000021209 |
Gene Name |
protein phosphatase 4, regulatory subunit 4 |
Synonyms |
8430415E04Rik |
MMRRC Submission |
040521-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R2965 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103579080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 873
(S873P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000044231]
[ENSMUST00000121625]
[ENSMUST00000187155]
[ENSMUST00000189871]
|
AlphaFold |
Q8C0Y0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021631
AA Change: S873P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021631 Gene: ENSMUSG00000021209 AA Change: S873P
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
55 |
577 |
6e-27 |
SMART |
PDB:3FGA|A
|
178 |
666 |
8e-6 |
PDB |
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044231
|
SMART Domains |
Protein: ENSMUSP00000048357 Gene: ENSMUSG00000061947
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
SERPIN
|
88 |
445 |
2.79e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121625
|
SMART Domains |
Protein: ENSMUSP00000113644 Gene: ENSMUSG00000061947
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
SERPIN
|
88 |
391 |
3.12e-53 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187155
AA Change: S764P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000140874 Gene: ENSMUSG00000021209 AA Change: S764P
Domain | Start | End | E-Value | Type |
Pfam:HEAT
|
145 |
175 |
2.8e-3 |
PFAM |
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
coiled coil region
|
581 |
617 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189871
|
SMART Domains |
Protein: ENSMUSP00000139786 Gene: ENSMUSG00000021209
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
95 |
577 |
7e-26 |
SMART |
PDB:1B3U|B
|
178 |
666 |
2e-6 |
PDB |
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
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 HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
Aff3 |
A |
G |
1: 38,248,791 (GRCm39) |
I772T |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,714,979 (GRCm39) |
I382V |
probably benign |
Het |
Anks1 |
A |
G |
17: 28,272,879 (GRCm39) |
T925A |
probably benign |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,892,264 (GRCm39) |
|
probably null |
Het |
Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
Col4a3 |
T |
C |
1: 82,626,321 (GRCm39) |
L86P |
unknown |
Het |
Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
Dnah7b |
T |
A |
1: 46,246,732 (GRCm39) |
I1636N |
probably damaging |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
Fam187b |
A |
C |
7: 30,677,154 (GRCm39) |
D221A |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gm10784 |
A |
T |
13: 50,099,233 (GRCm39) |
|
noncoding transcript |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Gria1 |
C |
T |
11: 57,076,627 (GRCm39) |
Q8* |
probably null |
Het |
H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,750,697 (GRCm39) |
D1796E |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
Klhl2 |
C |
T |
8: 65,205,794 (GRCm39) |
V376M |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,534,794 (GRCm39) |
V304A |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,836,202 (GRCm38) |
L141P |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,824,236 (GRCm39) |
S1110C |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,034,364 (GRCm39) |
S359T |
possibly damaging |
Het |
Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,871,930 (GRCm39) |
T385A |
possibly damaging |
Het |
Tcf15 |
T |
C |
2: 151,985,871 (GRCm39) |
I109T |
probably damaging |
Het |
Tcp11 |
C |
A |
17: 28,288,239 (GRCm39) |
D330Y |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,715 (GRCm39) |
V91E |
probably benign |
Het |
Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,996,609 (GRCm39) |
I303T |
probably damaging |
Het |
Zfp229 |
T |
G |
17: 21,965,010 (GRCm39) |
H413Q |
probably damaging |
Het |
|
Other mutations in Ppp4r4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00827:Ppp4r4
|
APN |
12 |
103,545,335 (GRCm39) |
missense |
probably benign |
|
IGL01388:Ppp4r4
|
APN |
12 |
103,543,108 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01662:Ppp4r4
|
APN |
12 |
103,569,225 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01768:Ppp4r4
|
APN |
12 |
103,547,664 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01894:Ppp4r4
|
APN |
12 |
103,559,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01921:Ppp4r4
|
APN |
12 |
103,542,569 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
IGL01960:Ppp4r4
|
APN |
12 |
103,547,753 (GRCm39) |
splice site |
probably benign |
|
IGL02084:Ppp4r4
|
APN |
12 |
103,566,657 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02287:Ppp4r4
|
APN |
12 |
103,553,747 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02315:Ppp4r4
|
APN |
12 |
103,566,620 (GRCm39) |
splice site |
probably benign |
|
IGL03137:Ppp4r4
|
APN |
12 |
103,547,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03170:Ppp4r4
|
APN |
12 |
103,557,033 (GRCm39) |
intron |
probably benign |
|
cataract
|
UTSW |
12 |
103,579,074 (GRCm39) |
nonsense |
probably null |
|
downfall
|
UTSW |
12 |
103,559,357 (GRCm39) |
missense |
probably benign |
0.00 |
R0114:Ppp4r4
|
UTSW |
12 |
103,542,633 (GRCm39) |
missense |
probably benign |
0.00 |
R0390:Ppp4r4
|
UTSW |
12 |
103,567,619 (GRCm39) |
splice site |
probably benign |
|
R0403:Ppp4r4
|
UTSW |
12 |
103,550,361 (GRCm39) |
missense |
probably benign |
|
R0548:Ppp4r4
|
UTSW |
12 |
103,579,074 (GRCm39) |
nonsense |
probably null |
|
R0601:Ppp4r4
|
UTSW |
12 |
103,566,779 (GRCm39) |
splice site |
probably benign |
|
R0894:Ppp4r4
|
UTSW |
12 |
103,566,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R1127:Ppp4r4
|
UTSW |
12 |
103,545,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R1177:Ppp4r4
|
UTSW |
12 |
103,542,582 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1378:Ppp4r4
|
UTSW |
12 |
103,547,751 (GRCm39) |
splice site |
probably benign |
|
R1442:Ppp4r4
|
UTSW |
12 |
103,564,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R1497:Ppp4r4
|
UTSW |
12 |
103,573,204 (GRCm39) |
missense |
probably benign |
0.07 |
R1651:Ppp4r4
|
UTSW |
12 |
103,550,331 (GRCm39) |
missense |
probably benign |
0.01 |
R1797:Ppp4r4
|
UTSW |
12 |
103,564,410 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1880:Ppp4r4
|
UTSW |
12 |
103,571,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2008:Ppp4r4
|
UTSW |
12 |
103,552,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Ppp4r4
|
UTSW |
12 |
103,542,539 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2404:Ppp4r4
|
UTSW |
12 |
103,547,749 (GRCm39) |
splice site |
probably null |
|
R2696:Ppp4r4
|
UTSW |
12 |
103,547,653 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2849:Ppp4r4
|
UTSW |
12 |
103,573,192 (GRCm39) |
missense |
probably benign |
0.00 |
R3030:Ppp4r4
|
UTSW |
12 |
103,573,215 (GRCm39) |
missense |
probably benign |
|
R3805:Ppp4r4
|
UTSW |
12 |
103,566,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R3862:Ppp4r4
|
UTSW |
12 |
103,562,680 (GRCm39) |
nonsense |
probably null |
|
R4194:Ppp4r4
|
UTSW |
12 |
103,524,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R4320:Ppp4r4
|
UTSW |
12 |
103,564,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4558:Ppp4r4
|
UTSW |
12 |
103,573,192 (GRCm39) |
missense |
probably benign |
0.00 |
R4783:Ppp4r4
|
UTSW |
12 |
103,557,117 (GRCm39) |
critical splice donor site |
probably null |
|
R4866:Ppp4r4
|
UTSW |
12 |
103,566,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4903:Ppp4r4
|
UTSW |
12 |
103,557,030 (GRCm39) |
splice site |
probably null |
|
R5309:Ppp4r4
|
UTSW |
12 |
103,573,147 (GRCm39) |
splice site |
probably null |
|
R5312:Ppp4r4
|
UTSW |
12 |
103,573,147 (GRCm39) |
splice site |
probably null |
|
R5381:Ppp4r4
|
UTSW |
12 |
103,559,357 (GRCm39) |
missense |
probably benign |
0.00 |
R5383:Ppp4r4
|
UTSW |
12 |
103,550,427 (GRCm39) |
missense |
probably benign |
0.14 |
R5447:Ppp4r4
|
UTSW |
12 |
103,550,410 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5942:Ppp4r4
|
UTSW |
12 |
103,553,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6339:Ppp4r4
|
UTSW |
12 |
103,571,228 (GRCm39) |
nonsense |
probably null |
|
R6386:Ppp4r4
|
UTSW |
12 |
103,559,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R6712:Ppp4r4
|
UTSW |
12 |
103,562,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R6755:Ppp4r4
|
UTSW |
12 |
103,551,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R6868:Ppp4r4
|
UTSW |
12 |
103,557,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Ppp4r4
|
UTSW |
12 |
103,518,179 (GRCm39) |
splice site |
probably null |
|
R7355:Ppp4r4
|
UTSW |
12 |
103,570,841 (GRCm39) |
nonsense |
probably null |
|
R7397:Ppp4r4
|
UTSW |
12 |
103,579,065 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7447:Ppp4r4
|
UTSW |
12 |
103,551,985 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7576:Ppp4r4
|
UTSW |
12 |
103,562,708 (GRCm39) |
missense |
probably damaging |
0.97 |
R7653:Ppp4r4
|
UTSW |
12 |
103,550,404 (GRCm39) |
missense |
probably damaging |
0.98 |
R7683:Ppp4r4
|
UTSW |
12 |
103,553,364 (GRCm39) |
nonsense |
probably null |
|
R7748:Ppp4r4
|
UTSW |
12 |
103,571,320 (GRCm39) |
critical splice donor site |
probably null |
|
R7831:Ppp4r4
|
UTSW |
12 |
103,557,080 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7833:Ppp4r4
|
UTSW |
12 |
103,564,407 (GRCm39) |
missense |
probably benign |
0.03 |
R8238:Ppp4r4
|
UTSW |
12 |
103,557,066 (GRCm39) |
missense |
probably benign |
0.20 |
R8559:Ppp4r4
|
UTSW |
12 |
103,559,420 (GRCm39) |
missense |
probably benign |
0.04 |
R8674:Ppp4r4
|
UTSW |
12 |
103,562,720 (GRCm39) |
missense |
probably damaging |
0.97 |
R8799:Ppp4r4
|
UTSW |
12 |
103,567,623 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8847:Ppp4r4
|
UTSW |
12 |
103,562,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Ppp4r4
|
UTSW |
12 |
103,566,706 (GRCm39) |
missense |
probably benign |
0.00 |
R9075:Ppp4r4
|
UTSW |
12 |
103,570,290 (GRCm39) |
nonsense |
probably null |
|
R9106:Ppp4r4
|
UTSW |
12 |
103,570,315 (GRCm39) |
missense |
probably benign |
0.01 |
R9393:Ppp4r4
|
UTSW |
12 |
103,571,296 (GRCm39) |
nonsense |
probably null |
|
R9508:Ppp4r4
|
UTSW |
12 |
103,542,561 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9520:Ppp4r4
|
UTSW |
12 |
103,500,378 (GRCm39) |
missense |
probably benign |
0.00 |
R9636:Ppp4r4
|
UTSW |
12 |
103,564,688 (GRCm39) |
missense |
unknown |
|
R9641:Ppp4r4
|
UTSW |
12 |
103,567,811 (GRCm39) |
missense |
probably benign |
0.15 |
R9765:Ppp4r4
|
UTSW |
12 |
103,550,346 (GRCm39) |
nonsense |
probably null |
|
R9766:Ppp4r4
|
UTSW |
12 |
103,562,735 (GRCm39) |
missense |
probably benign |
0.40 |
X0025:Ppp4r4
|
UTSW |
12 |
103,566,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGATGTGTAATTAATTTCCTCTGCG -3'
(R):5'- CACTCGGATTCAGAGCCTAC -3'
Sequencing Primer
(F):5'- CCTCTGCGTAAGAATTATCATACTG -3'
(R):5'- GTAAATCGCATGTCATACCTCCTAGG -3'
|
Posted On |
2014-12-29 |