Incidental Mutation 'R2037:Pik3r4'
| ID |
224799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
040044-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105527534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 296
(R296C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000188784]
[ENSMUST00000191268]
|
| AlphaFold |
Q8VD65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065778
AA Change: R296C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: R296C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
26 |
310 |
1.7e-5 |
PFAM |
|
Pfam:Pkinase
|
26 |
312 |
1.2e-18 |
PFAM |
|
coiled coil region
|
941 |
963 |
N/A |
INTRINSIC |
|
WD40
|
982 |
1021 |
3.99e-8 |
SMART |
|
WD40
|
1031 |
1070 |
6.16e0 |
SMART |
|
WD40
|
1132 |
1169 |
4.58e1 |
SMART |
|
WD40
|
1171 |
1214 |
1.64e2 |
SMART |
|
WD40
|
1228 |
1269 |
2.76e-2 |
SMART |
|
WD40
|
1317 |
1358 |
2.96e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188784
|
| SMART Domains |
Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
301 |
2.8e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191268
AA Change: R296C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: R296C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
26 |
310 |
8.9e-7 |
PFAM |
|
Pfam:Pkinase
|
26 |
312 |
3.7e-23 |
PFAM |
|
coiled coil region
|
941 |
963 |
N/A |
INTRINSIC |
|
WD40
|
982 |
1021 |
3.99e-8 |
SMART |
|
WD40
|
1031 |
1070 |
6.16e0 |
SMART |
|
WD40
|
1132 |
1169 |
4.58e1 |
SMART |
|
WD40
|
1171 |
1214 |
1.64e2 |
SMART |
|
WD40
|
1228 |
1269 |
2.76e-2 |
SMART |
|
WD40
|
1317 |
1358 |
2.96e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit earl embryonic lethality before E7.5. Mice homozygous for a conditional allele activated in muscles exhibit symptoms of autophagic vacuolar myopathies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,980,810 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,023,815 (GRCm39) |
Y391C |
probably benign |
Het |
| Ankfn1 |
A |
T |
11: 89,346,946 (GRCm39) |
S296T |
probably benign |
Het |
| Apob |
A |
G |
12: 8,057,488 (GRCm39) |
D1957G |
probably benign |
Het |
| Baz1a |
G |
T |
12: 54,976,431 (GRCm39) |
P415Q |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,134 (GRCm39) |
H1299Q |
probably benign |
Het |
| C7 |
G |
T |
15: 5,063,720 (GRCm39) |
S227* |
probably null |
Het |
| Catsperb |
A |
T |
12: 101,474,221 (GRCm39) |
R306S |
probably damaging |
Het |
| Cbx3 |
T |
A |
6: 51,448,793 (GRCm39) |
|
probably null |
Het |
| Ccnt2 |
A |
G |
1: 127,731,136 (GRCm39) |
Y671C |
probably damaging |
Het |
| Crocc |
A |
G |
4: 140,774,253 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
G |
A |
7: 110,646,014 (GRCm39) |
V669I |
probably benign |
Het |
| Dck |
T |
G |
5: 88,920,576 (GRCm39) |
Y99D |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,835,432 (GRCm39) |
D119E |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,823,768 (GRCm39) |
K596N |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,621,741 (GRCm39) |
V1128E |
probably benign |
Het |
| Dph1 |
A |
T |
11: 75,076,679 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,444,550 (GRCm39) |
S2P |
possibly damaging |
Het |
| Erc1 |
A |
C |
6: 119,699,216 (GRCm39) |
V802G |
possibly damaging |
Het |
| F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
| Fam169a |
C |
A |
13: 97,243,600 (GRCm39) |
A210E |
probably benign |
Het |
| Fcmr |
A |
G |
1: 130,806,070 (GRCm39) |
D342G |
possibly damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,315,702 (GRCm39) |
V743G |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,856 (GRCm39) |
D1725G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,136,934 (GRCm39) |
C195* |
probably null |
Het |
| Herc2 |
G |
A |
7: 55,855,709 (GRCm39) |
A3882T |
probably damaging |
Het |
| Il20 |
T |
A |
1: 130,836,115 (GRCm39) |
N143Y |
probably damaging |
Het |
| Inpp5b |
A |
G |
4: 124,692,092 (GRCm39) |
S892G |
probably damaging |
Het |
| Ipo13 |
A |
T |
4: 117,761,858 (GRCm39) |
Y447* |
probably null |
Het |
| Itprid1 |
A |
G |
6: 55,874,860 (GRCm39) |
N270S |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,594,779 (GRCm39) |
N350K |
probably benign |
Het |
| Kiz |
T |
C |
2: 146,811,880 (GRCm39) |
F663S |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,263 (GRCm39) |
D870G |
probably benign |
Het |
| Methig1 |
C |
T |
15: 100,251,467 (GRCm39) |
A126V |
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,681 (GRCm39) |
D209G |
probably null |
Het |
| Mroh4 |
A |
G |
15: 74,481,610 (GRCm39) |
F811L |
possibly damaging |
Het |
| Myo9b |
G |
T |
8: 71,743,510 (GRCm39) |
K190N |
probably damaging |
Het |
| Ncf1 |
T |
C |
5: 134,258,406 (GRCm39) |
I6V |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,310,618 (GRCm39) |
F121L |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,411,152 (GRCm39) |
D183G |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,418,429 (GRCm39) |
V53A |
probably benign |
Het |
| Or10u4 |
T |
C |
10: 129,802,009 (GRCm39) |
I187V |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,176 (GRCm39) |
S307G |
probably benign |
Het |
| Or8k22 |
T |
C |
2: 86,162,774 (GRCm39) |
N309D |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,784,214 (GRCm39) |
Y265* |
probably null |
Het |
| Pigg |
G |
A |
5: 108,486,518 (GRCm39) |
A724T |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,617 (GRCm39) |
|
probably null |
Het |
| Pld4 |
A |
G |
12: 112,734,992 (GRCm39) |
D483G |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,173,674 (GRCm39) |
R399H |
probably damaging |
Het |
| Qrfpr |
A |
T |
3: 36,236,806 (GRCm39) |
H198Q |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,050,748 (GRCm39) |
D883E |
probably damaging |
Het |
| Retnlg |
T |
C |
16: 48,694,615 (GRCm39) |
C88R |
probably damaging |
Het |
| Sin3a |
C |
T |
9: 57,004,109 (GRCm39) |
T287I |
probably benign |
Het |
| Slc44a1 |
GCC |
GCCCCC |
4: 53,563,243 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
C |
11: 104,077,307 (GRCm39) |
V36L |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,338 (GRCm39) |
I68N |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,883,231 (GRCm39) |
S195R |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,605,887 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,699,163 (GRCm39) |
S199G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,988,634 (GRCm39) |
Y42F |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,072,343 (GRCm39) |
T120A |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,112,627 (GRCm39) |
F809L |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,555,544 (GRCm39) |
S117P |
probably damaging |
Het |
| Tefm |
C |
T |
11: 80,031,056 (GRCm39) |
R60H |
probably damaging |
Het |
| Tmem104 |
G |
A |
11: 115,092,221 (GRCm39) |
R110H |
possibly damaging |
Het |
| Tnxb |
G |
A |
17: 34,918,179 (GRCm39) |
G2364D |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,134 (GRCm39) |
I178F |
probably damaging |
Het |
| Vmn1r6 |
A |
T |
6: 56,980,109 (GRCm39) |
Y235F |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,385,529 (GRCm39) |
T540K |
probably benign |
Het |
|
| Other mutations in Pik3r4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Pik3r4
|
APN |
9 |
105,521,803 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01617:Pik3r4
|
APN |
9 |
105,532,164 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01764:Pik3r4
|
APN |
9 |
105,562,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL01817:Pik3r4
|
APN |
9 |
105,528,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01830:Pik3r4
|
APN |
9 |
105,522,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01905:Pik3r4
|
APN |
9 |
105,522,077 (GRCm39) |
nonsense |
probably null |
|
|
IGL01947:Pik3r4
|
APN |
9 |
105,563,349 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01985:Pik3r4
|
APN |
9 |
105,540,244 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02321:Pik3r4
|
APN |
9 |
105,521,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02389:Pik3r4
|
APN |
9 |
105,527,530 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02898:Pik3r4
|
APN |
9 |
105,527,605 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03037:Pik3r4
|
APN |
9 |
105,528,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
boteh
|
UTSW |
9 |
105,545,137 (GRCm39) |
splice site |
probably null |
|
|
truth
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
verisimilitude
|
UTSW |
9 |
105,555,352 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02835:Pik3r4
|
UTSW |
9 |
105,549,905 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0011:Pik3r4
|
UTSW |
9 |
105,521,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0312:Pik3r4
|
UTSW |
9 |
105,563,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Pik3r4
|
UTSW |
9 |
105,525,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Pik3r4
|
UTSW |
9 |
105,546,244 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0645:Pik3r4
|
UTSW |
9 |
105,546,386 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Pik3r4
|
UTSW |
9 |
105,531,175 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0789:Pik3r4
|
UTSW |
9 |
105,562,366 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0894:Pik3r4
|
UTSW |
9 |
105,544,970 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0988:Pik3r4
|
UTSW |
9 |
105,564,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1123:Pik3r4
|
UTSW |
9 |
105,540,328 (GRCm39) |
missense |
probably benign |
|
|
R1172:Pik3r4
|
UTSW |
9 |
105,540,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Pik3r4
|
UTSW |
9 |
105,540,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1342:Pik3r4
|
UTSW |
9 |
105,528,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1387:Pik3r4
|
UTSW |
9 |
105,521,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Pik3r4
|
UTSW |
9 |
105,564,443 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1638:Pik3r4
|
UTSW |
9 |
105,564,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Pik3r4
|
UTSW |
9 |
105,564,351 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1995:Pik3r4
|
UTSW |
9 |
105,546,364 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2165:Pik3r4
|
UTSW |
9 |
105,549,984 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4210:Pik3r4
|
UTSW |
9 |
105,527,957 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4515:Pik3r4
|
UTSW |
9 |
105,549,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Pik3r4
|
UTSW |
9 |
105,549,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Pik3r4
|
UTSW |
9 |
105,532,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4632:Pik3r4
|
UTSW |
9 |
105,532,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4732:Pik3r4
|
UTSW |
9 |
105,555,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4733:Pik3r4
|
UTSW |
9 |
105,555,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4940:Pik3r4
|
UTSW |
9 |
105,546,193 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5120:Pik3r4
|
UTSW |
9 |
105,546,208 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5169:Pik3r4
|
UTSW |
9 |
105,555,360 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5183:Pik3r4
|
UTSW |
9 |
105,559,507 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5353:Pik3r4
|
UTSW |
9 |
105,545,137 (GRCm39) |
splice site |
probably null |
|
|
R5463:Pik3r4
|
UTSW |
9 |
105,525,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Pik3r4
|
UTSW |
9 |
105,545,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5763:Pik3r4
|
UTSW |
9 |
105,546,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5830:Pik3r4
|
UTSW |
9 |
105,522,023 (GRCm39) |
nonsense |
probably null |
|
|
R6251:Pik3r4
|
UTSW |
9 |
105,531,247 (GRCm39) |
missense |
probably benign |
|
|
R6468:Pik3r4
|
UTSW |
9 |
105,562,389 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6611:Pik3r4
|
UTSW |
9 |
105,521,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6642:Pik3r4
|
UTSW |
9 |
105,521,845 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6821:Pik3r4
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7039:Pik3r4
|
UTSW |
9 |
105,554,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7144:Pik3r4
|
UTSW |
9 |
105,527,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7410:Pik3r4
|
UTSW |
9 |
105,527,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Pik3r4
|
UTSW |
9 |
105,555,352 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7561:Pik3r4
|
UTSW |
9 |
105,564,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7658:Pik3r4
|
UTSW |
9 |
105,521,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7727:Pik3r4
|
UTSW |
9 |
105,547,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7871:Pik3r4
|
UTSW |
9 |
105,540,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7957:Pik3r4
|
UTSW |
9 |
105,564,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Pik3r4
|
UTSW |
9 |
105,546,234 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8686:Pik3r4
|
UTSW |
9 |
105,535,728 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8719:Pik3r4
|
UTSW |
9 |
105,559,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9091:Pik3r4
|
UTSW |
9 |
105,547,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9189:Pik3r4
|
UTSW |
9 |
105,547,038 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9270:Pik3r4
|
UTSW |
9 |
105,547,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9439:Pik3r4
|
UTSW |
9 |
105,528,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATCCGCTGCCTTCTAG -3'
(R):5'- GGCAAATCATGTCCACAGAGG -3'
Sequencing Primer
(F):5'- CCTGTGTGCTTGCATATAGACAAG -3'
(R):5'- ACAGAGGTTGTGAATAATGTTGCCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation