Incidental Mutation 'R9508:Ppp4r4'
| ID |
717959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103542561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 108
(V108M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
|
| AlphaFold |
Q8C0Y0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021631
AA Change: V108M
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: V108M
| 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: ENSMUST00000187155
|
| SMART Domains |
Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
| 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 |
possibly damaging
Transcript: ENSMUST00000189871
AA Change: V108M
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: V108M
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
G |
A |
13: 119,617,484 (GRCm39) |
V536I |
|
Het |
| Adam18 |
A |
G |
8: 25,143,778 (GRCm39) |
I187T |
possibly damaging |
Het |
| Adam24 |
A |
G |
8: 41,132,941 (GRCm39) |
I136M |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,280 (GRCm39) |
I139F |
possibly damaging |
Het |
| Cacna1i |
C |
T |
15: 80,279,372 (GRCm39) |
P2038S |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,544,685 (GRCm39) |
I26N |
probably damaging |
Het |
| Cldn1 |
A |
T |
16: 26,179,619 (GRCm39) |
Y149* |
probably null |
Het |
| Cnot11 |
T |
C |
1: 39,581,575 (GRCm39) |
V372A |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,329,616 (GRCm39) |
L458P |
probably damaging |
Het |
| Cnot4 |
T |
C |
6: 35,045,554 (GRCm39) |
E219G |
|
Het |
| Col8a1 |
T |
G |
16: 57,448,947 (GRCm39) |
I188L |
unknown |
Het |
| Daam2 |
T |
C |
17: 49,765,618 (GRCm39) |
K1095R |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,725,089 (GRCm39) |
T4355A |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,070 (GRCm39) |
I846V |
probably damaging |
Het |
| Ehd4 |
C |
T |
2: 119,921,966 (GRCm39) |
G430E |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,083,033 (GRCm39) |
Y670H |
possibly damaging |
Het |
| Galnt10 |
T |
A |
11: 57,673,040 (GRCm39) |
N465K |
possibly damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,912,015 (GRCm39) |
N183S |
probably damaging |
Het |
| Gnl1 |
T |
C |
17: 36,299,625 (GRCm39) |
Y599H |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,585,830 (GRCm39) |
S267P |
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,341,636 (GRCm39) |
N179K |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,845 (GRCm39) |
M255L |
probably benign |
Het |
| Ighv2-6 |
T |
C |
12: 113,680,430 (GRCm39) |
I70M |
probably benign |
Het |
| Igkv4-74 |
T |
A |
6: 69,161,942 (GRCm39) |
N76Y |
probably damaging |
Het |
| Il11ra1 |
T |
C |
4: 41,767,527 (GRCm39) |
V293A |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,687,076 (GRCm39) |
L582Q |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,269,259 (GRCm39) |
T2554A |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,010,621 (GRCm39) |
Y619F |
probably benign |
Het |
| Mknk1 |
A |
G |
4: 115,732,579 (GRCm39) |
N269S |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,951,692 (GRCm39) |
E435D |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or2f2 |
A |
G |
6: 42,767,928 (GRCm39) |
*318W |
probably null |
Het |
| Or5g9 |
A |
G |
2: 85,552,165 (GRCm39) |
R139G |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,933 (GRCm39) |
Q101L |
probably damaging |
Het |
| P3h3 |
A |
G |
6: 124,830,012 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
C |
T |
9: 61,880,079 (GRCm39) |
V72M |
probably benign |
Het |
| Pilrb2 |
G |
A |
5: 137,869,261 (GRCm39) |
T113I |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,121 (GRCm39) |
E63G |
probably damaging |
Het |
| Ptprf |
G |
T |
4: 118,126,776 (GRCm39) |
S46* |
probably null |
Het |
| Rab2a |
T |
C |
4: 8,582,447 (GRCm39) |
L143P |
|
Het |
| Rassf7 |
C |
T |
7: 140,796,924 (GRCm39) |
R46* |
probably null |
Het |
| Sec23a |
T |
C |
12: 59,036,185 (GRCm39) |
D393G |
probably benign |
Het |
| Semp2l2b |
A |
G |
10: 21,942,816 (GRCm39) |
V388A |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,518,515 (GRCm39) |
F338L |
probably benign |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,723,437 (GRCm39) |
R27H |
probably benign |
Het |
| Sumo2 |
A |
C |
11: 115,414,538 (GRCm39) |
Y95D |
possibly damaging |
Het |
| Tbx18 |
G |
A |
9: 87,587,926 (GRCm39) |
S397F |
probably damaging |
Het |
| Ticam2 |
G |
C |
18: 46,693,748 (GRCm39) |
P113R |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,076,096 (GRCm39) |
S63G |
probably benign |
Het |
| Tinag |
C |
T |
9: 76,912,981 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tmem143 |
A |
T |
7: 45,565,630 (GRCm39) |
K364* |
probably null |
Het |
| Tmem160 |
A |
G |
7: 16,186,840 (GRCm39) |
|
probably benign |
Het |
| Tmod4 |
G |
C |
3: 95,034,713 (GRCm39) |
E154Q |
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,145,090 (GRCm39) |
K725N |
|
Het |
| Ttn |
G |
T |
2: 76,715,978 (GRCm39) |
A7767D |
unknown |
Het |
| Tubd1 |
T |
A |
11: 86,448,640 (GRCm39) |
Y318N |
probably damaging |
Het |
| Ufd1 |
T |
A |
16: 18,643,802 (GRCm39) |
M187K |
possibly damaging |
Het |
| Unc5c |
A |
G |
3: 141,494,736 (GRCm39) |
N424D |
possibly damaging |
Het |
| Usp19 |
C |
T |
9: 108,371,608 (GRCm39) |
S329L |
probably damaging |
Het |
| Vps16 |
T |
A |
2: 130,284,361 (GRCm39) |
I704N |
possibly damaging |
Het |
| Vwf |
A |
T |
6: 125,532,471 (GRCm39) |
I72F |
|
Het |
| Ypel4 |
T |
C |
2: 84,567,304 (GRCm39) |
S46P |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,842,584 (GRCm39) |
|
probably null |
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 |
|
R2965:Ppp4r4
|
UTSW |
12 |
103,579,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CCTGTAAATCAAGAGAATGTTACCC -3'
(R):5'- TGGCCAGACAACATGAACG -3'
Sequencing Primer
(F):5'- GTCCATAACCTTGGCTCT -3'
(R):5'- ATGAACGACTGTCACCGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation