Incidental Mutation 'R2217:Gpat4'
ID |
241213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat4
|
Ensembl Gene |
ENSMUSG00000031545 |
Gene Name |
glycerol-3-phosphate acyltransferase 4 |
Synonyms |
Agpat6 |
MMRRC Submission |
040219-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.420)
|
Stock # |
R2217 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23670171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 286
(P286L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
[ENSMUST00000209507]
|
AlphaFold |
Q8K2C8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167004
AA Change: P286L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127325 Gene: ENSMUSG00000031545 AA Change: P286L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
156 |
175 |
N/A |
INTRINSIC |
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
PlsC
|
242 |
353 |
9.31e-24 |
SMART |
Blast:PlsC
|
368 |
413 |
7e-18 |
BLAST |
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211260
|
Meta Mutation Damage Score |
0.9423 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004] PHENOTYPE: Nursing mothers homozygous for a gene trap allele display underdeveloped mammary glands that are depleted in intracellular fat droplets and lack the ability to produce diacylglycerol- and triacylglycerol-rich milk; pups nursed by mutant mothers die neonatally unless transferred to foster mothers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
T |
C |
8: 112,709,128 (GRCm39) |
K232E |
probably benign |
Het |
Apba1 |
T |
C |
19: 23,871,326 (GRCm39) |
M386T |
probably damaging |
Het |
Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,647,368 (GRCm39) |
Y809C |
probably damaging |
Het |
Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,560,478 (GRCm39) |
L823P |
probably damaging |
Het |
Crb3 |
T |
C |
17: 57,372,090 (GRCm39) |
S46P |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,036,601 (GRCm39) |
R1058H |
probably damaging |
Het |
Ehd1 |
T |
A |
19: 6,348,502 (GRCm39) |
D493E |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,992,287 (GRCm39) |
M328K |
probably benign |
Het |
Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,240,586 (GRCm39) |
T494S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,145,138 (GRCm39) |
V830I |
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,973,983 (GRCm39) |
H487Q |
possibly damaging |
Het |
Myh14 |
G |
A |
7: 44,283,800 (GRCm39) |
P735S |
probably damaging |
Het |
Nfkb2 |
T |
C |
19: 46,296,163 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,076,113 (GRCm39) |
V671A |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Pak5 |
A |
G |
2: 135,958,123 (GRCm39) |
S322P |
probably damaging |
Het |
Pank2 |
A |
G |
2: 131,124,601 (GRCm39) |
|
probably null |
Het |
Phf6 |
A |
T |
X: 52,031,525 (GRCm39) |
I272F |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,480,056 (GRCm39) |
L1409P |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
Psma1 |
C |
T |
7: 113,864,173 (GRCm39) |
E227K |
unknown |
Het |
Ptger1 |
C |
T |
8: 84,395,357 (GRCm39) |
T278I |
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,050,532 (GRCm39) |
S250R |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,672 (GRCm39) |
T285A |
probably damaging |
Het |
Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
Slf1 |
T |
A |
13: 77,194,825 (GRCm39) |
|
probably null |
Het |
Tiam2 |
A |
G |
17: 3,465,389 (GRCm39) |
T373A |
probably benign |
Het |
Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
Trpm2 |
T |
A |
10: 77,777,016 (GRCm39) |
D427V |
probably damaging |
Het |
Vax2 |
A |
T |
6: 83,714,871 (GRCm39) |
Y262F |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
Zfp27 |
A |
G |
7: 29,595,536 (GRCm39) |
L143P |
possibly damaging |
Het |
|
Other mutations in Gpat4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00579:Gpat4
|
APN |
8 |
23,672,791 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01660:Gpat4
|
APN |
8 |
23,665,354 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01688:Gpat4
|
APN |
8 |
23,671,861 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02749:Gpat4
|
APN |
8 |
23,670,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Gpat4
|
UTSW |
8 |
23,680,721 (GRCm39) |
splice site |
probably benign |
|
R0362:Gpat4
|
UTSW |
8 |
23,670,949 (GRCm39) |
missense |
probably benign |
0.05 |
R0961:Gpat4
|
UTSW |
8 |
23,670,927 (GRCm39) |
missense |
probably damaging |
0.96 |
R1876:Gpat4
|
UTSW |
8 |
23,669,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1959:Gpat4
|
UTSW |
8 |
23,672,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2313:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R2315:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R2969:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3110:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3112:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3774:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3775:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3826:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3828:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3829:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3830:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3943:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R3944:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
R4384:Gpat4
|
UTSW |
8 |
23,664,602 (GRCm39) |
missense |
probably benign |
0.05 |
R4685:Gpat4
|
UTSW |
8 |
23,672,865 (GRCm39) |
utr 5 prime |
probably benign |
|
R5120:Gpat4
|
UTSW |
8 |
23,670,218 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5199:Gpat4
|
UTSW |
8 |
23,672,712 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5491:Gpat4
|
UTSW |
8 |
23,670,680 (GRCm39) |
missense |
probably benign |
0.38 |
R8393:Gpat4
|
UTSW |
8 |
23,669,498 (GRCm39) |
unclassified |
probably benign |
|
R8395:Gpat4
|
UTSW |
8 |
23,669,498 (GRCm39) |
unclassified |
probably benign |
|
R8396:Gpat4
|
UTSW |
8 |
23,669,498 (GRCm39) |
unclassified |
probably benign |
|
X0062:Gpat4
|
UTSW |
8 |
23,680,727 (GRCm39) |
splice site |
probably null |
|
X0064:Gpat4
|
UTSW |
8 |
23,665,410 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gpat4
|
UTSW |
8 |
23,669,814 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATGGACCATTTGCCCCAC -3'
(R):5'- TCACAACCAGGGGTCTAAAGAG -3'
Sequencing Primer
(F):5'- CACAGTTCCAAATTTGTTTATTGGG -3'
(R):5'- GTGGAACAGAGACTGGGGTATTTG -3'
|
Posted On |
2014-10-15 |