Incidental Mutation 'R0624:Bltp2'
ID |
58827 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp2
|
Ensembl Gene |
ENSMUSG00000010277 |
Gene Name |
bridge-like lipid transfer protein family member 2 |
Synonyms |
2610507B11Rik |
MMRRC Submission |
038813-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R0624 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78159283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 494
(E494K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
AlphaFold |
Q5SYL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010421
AA Change: E494K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000010421 Gene: ENSMUSG00000010277 AA Change: E494K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
Pfam:Fmp27
|
26 |
475 |
1.6e-45 |
PFAM |
Pfam:Fmp27
|
446 |
674 |
3.2e-24 |
PFAM |
low complexity region
|
719 |
734 |
N/A |
INTRINSIC |
low complexity region
|
785 |
798 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
Fmp27_GFWDK
|
1028 |
1160 |
3.01e-61 |
SMART |
low complexity region
|
1415 |
1421 |
N/A |
INTRINSIC |
low complexity region
|
1690 |
1701 |
N/A |
INTRINSIC |
Pfam:Apt1
|
1703 |
2176 |
2.4e-112 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125459
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132756
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136184
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145145
|
SMART Domains |
Protein: ENSMUSP00000119105 Gene: ENSMUSG00000010277
Domain | Start | End | E-Value | Type |
Pfam:Fmp27_GFWDK
|
1 |
52 |
1.2e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.1837 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.2%
|
Validation Efficiency |
98% (88/90) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,030,446 (GRCm39) |
D767V |
probably damaging |
Het |
Add1 |
T |
A |
5: 34,763,197 (GRCm39) |
N128K |
probably damaging |
Het |
Ado |
A |
T |
10: 67,384,058 (GRCm39) |
D182E |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,002,761 (GRCm39) |
|
probably benign |
Het |
Ano10 |
A |
G |
9: 122,088,661 (GRCm39) |
|
probably benign |
Het |
Apba2 |
A |
G |
7: 64,364,263 (GRCm39) |
|
probably null |
Het |
Apc2 |
A |
G |
10: 80,150,417 (GRCm39) |
T1795A |
probably benign |
Het |
Atp4a |
A |
G |
7: 30,418,424 (GRCm39) |
N571D |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,887,344 (GRCm39) |
N891D |
probably benign |
Het |
Car3 |
G |
T |
3: 14,931,864 (GRCm39) |
M78I |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,887,371 (GRCm39) |
H1267L |
probably benign |
Het |
Cdk18 |
A |
G |
1: 132,046,610 (GRCm39) |
L192P |
probably damaging |
Het |
Cdk9 |
A |
T |
2: 32,599,836 (GRCm39) |
Y134N |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,448,888 (GRCm39) |
T85S |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,952,347 (GRCm39) |
T1403A |
probably benign |
Het |
Chd8 |
C |
T |
14: 52,457,214 (GRCm39) |
G918D |
possibly damaging |
Het |
Csnk1e |
T |
A |
15: 79,304,098 (GRCm39) |
|
probably benign |
Het |
Dctpp1 |
A |
T |
7: 126,856,365 (GRCm39) |
I119N |
probably damaging |
Het |
Defb34 |
T |
A |
8: 19,173,784 (GRCm39) |
F6Y |
unknown |
Het |
Dnai4 |
T |
C |
4: 102,930,054 (GRCm39) |
|
probably benign |
Het |
Dvl1 |
C |
G |
4: 155,939,232 (GRCm39) |
N248K |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,618,181 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,211,910 (GRCm39) |
D199G |
probably damaging |
Het |
Eml5 |
T |
A |
12: 98,831,738 (GRCm39) |
R407W |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,551,688 (GRCm39) |
D99G |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,504,205 (GRCm39) |
N4566I |
possibly damaging |
Het |
Gm21834 |
T |
C |
17: 58,049,015 (GRCm39) |
E67G |
possibly damaging |
Het |
Gsap |
T |
A |
5: 21,458,949 (GRCm39) |
|
probably null |
Het |
Guf1 |
T |
C |
5: 69,715,923 (GRCm39) |
I108T |
probably damaging |
Het |
Hsd3b5 |
T |
C |
3: 98,526,720 (GRCm39) |
D242G |
probably damaging |
Het |
Kcna7 |
A |
G |
7: 45,059,114 (GRCm39) |
D467G |
probably null |
Het |
Lars1 |
A |
G |
18: 42,375,849 (GRCm39) |
|
probably benign |
Het |
Lrrc56 |
A |
T |
7: 140,786,366 (GRCm39) |
D248V |
probably damaging |
Het |
Map3k14 |
T |
A |
11: 103,133,117 (GRCm39) |
E27V |
possibly damaging |
Het |
Med12l |
G |
A |
3: 58,945,123 (GRCm39) |
W116* |
probably null |
Het |
Mgll |
A |
G |
6: 88,702,799 (GRCm39) |
R33G |
probably damaging |
Het |
Mmp13 |
A |
G |
9: 7,280,221 (GRCm39) |
S384G |
possibly damaging |
Het |
Nalcn |
C |
T |
14: 123,607,444 (GRCm39) |
C675Y |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,396,117 (GRCm39) |
L13P |
unknown |
Het |
Ocstamp |
A |
G |
2: 165,239,772 (GRCm39) |
V138A |
probably damaging |
Het |
Or12e8 |
T |
G |
2: 87,188,026 (GRCm39) |
Y79* |
probably null |
Het |
Or2z8 |
T |
A |
8: 72,812,006 (GRCm39) |
S161T |
possibly damaging |
Het |
Or4a68 |
A |
G |
2: 89,270,482 (GRCm39) |
V47A |
possibly damaging |
Het |
Or4f7 |
T |
C |
2: 111,645,056 (GRCm39) |
N5S |
probably damaging |
Het |
Or5p51 |
A |
G |
7: 107,444,323 (GRCm39) |
S206P |
possibly damaging |
Het |
Or9i1b |
T |
G |
19: 13,896,808 (GRCm39) |
C141W |
probably damaging |
Het |
Patj |
T |
C |
4: 98,569,472 (GRCm39) |
|
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,651,780 (GRCm39) |
I83V |
probably benign |
Het |
Pclo |
A |
G |
5: 14,719,670 (GRCm39) |
E1269G |
unknown |
Het |
Plagl2 |
T |
C |
2: 153,077,973 (GRCm39) |
T3A |
probably benign |
Het |
Plcb1 |
C |
T |
2: 135,136,831 (GRCm39) |
P309S |
possibly damaging |
Het |
Pld3 |
A |
T |
7: 27,239,000 (GRCm39) |
L175Q |
possibly damaging |
Het |
Prrx1 |
A |
G |
1: 163,075,974 (GRCm39) |
|
probably benign |
Het |
Psap |
T |
G |
10: 60,135,345 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
G |
A |
3: 151,540,839 (GRCm39) |
T223M |
probably damaging |
Het |
Reep2 |
A |
T |
18: 34,973,824 (GRCm39) |
I6F |
probably benign |
Het |
Rraga |
A |
G |
4: 86,494,454 (GRCm39) |
E100G |
probably benign |
Het |
Rrm2b |
T |
C |
15: 37,931,889 (GRCm39) |
D37G |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,559,153 (GRCm39) |
I895M |
probably damaging |
Het |
Ryr1 |
G |
A |
7: 28,774,034 (GRCm39) |
A2445V |
probably damaging |
Het |
Sbf1 |
C |
T |
15: 89,186,532 (GRCm39) |
D898N |
possibly damaging |
Het |
Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
Shf |
C |
A |
2: 122,199,116 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
T |
C |
7: 29,086,676 (GRCm39) |
E638G |
probably damaging |
Het |
Slc13a3 |
G |
T |
2: 165,253,807 (GRCm39) |
P449T |
probably damaging |
Het |
Slc2a13 |
C |
T |
15: 91,234,215 (GRCm39) |
V374I |
possibly damaging |
Het |
Slc4a7 |
T |
C |
14: 14,794,059 (GRCm38) |
|
probably null |
Het |
Slc7a2 |
T |
A |
8: 41,361,568 (GRCm39) |
S414T |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,393,719 (GRCm39) |
E554G |
probably benign |
Het |
Smad2 |
T |
C |
18: 76,433,064 (GRCm39) |
I332T |
probably damaging |
Het |
Snrnp40 |
C |
T |
4: 130,256,451 (GRCm39) |
P59S |
probably damaging |
Het |
Sorcs2 |
A |
T |
5: 36,222,777 (GRCm39) |
I154N |
probably damaging |
Het |
Sort1 |
G |
A |
3: 108,255,946 (GRCm39) |
G631S |
probably damaging |
Het |
Sox10 |
T |
C |
15: 79,043,586 (GRCm39) |
D149G |
possibly damaging |
Het |
Spn |
C |
T |
7: 126,735,380 (GRCm39) |
V376M |
possibly damaging |
Het |
Tacc2 |
A |
G |
7: 130,179,239 (GRCm39) |
D9G |
probably damaging |
Het |
Tapt1 |
T |
G |
5: 44,334,448 (GRCm39) |
L514F |
possibly damaging |
Het |
Tcf3 |
A |
G |
10: 80,249,168 (GRCm39) |
L480P |
probably damaging |
Het |
Tenm4 |
G |
C |
7: 96,423,227 (GRCm39) |
G637A |
probably damaging |
Het |
Tex14 |
T |
A |
11: 87,411,525 (GRCm39) |
N950K |
probably benign |
Het |
Tgfbrap1 |
T |
G |
1: 43,098,289 (GRCm39) |
H497P |
probably benign |
Het |
Tnfrsf18 |
A |
T |
4: 156,110,986 (GRCm39) |
Y48F |
possibly damaging |
Het |
Tnxb |
A |
C |
17: 34,902,522 (GRCm39) |
H1002P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,593,571 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
C |
G |
5: 87,041,591 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
G |
19: 27,215,663 (GRCm39) |
D220G |
possibly damaging |
Het |
Vmn1r33 |
A |
T |
6: 66,589,121 (GRCm39) |
Y144* |
probably null |
Het |
Xrcc4 |
T |
C |
13: 90,140,594 (GRCm39) |
E205G |
possibly damaging |
Het |
|
Other mutations in Bltp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Bltp2
|
APN |
11 |
78,160,400 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00497:Bltp2
|
APN |
11 |
78,163,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00797:Bltp2
|
APN |
11 |
78,163,976 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01695:Bltp2
|
APN |
11 |
78,156,019 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02055:Bltp2
|
APN |
11 |
78,177,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02066:Bltp2
|
APN |
11 |
78,164,058 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Bltp2
|
APN |
11 |
78,170,722 (GRCm39) |
missense |
probably benign |
|
IGL02282:Bltp2
|
APN |
11 |
78,175,054 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02293:Bltp2
|
APN |
11 |
78,162,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Bltp2
|
APN |
11 |
78,179,858 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02528:Bltp2
|
APN |
11 |
78,162,802 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03231:Bltp2
|
APN |
11 |
78,159,528 (GRCm39) |
missense |
probably benign |
0.02 |
R0003:Bltp2
|
UTSW |
11 |
78,177,404 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0197:Bltp2
|
UTSW |
11 |
78,160,530 (GRCm39) |
unclassified |
probably benign |
|
R0244:Bltp2
|
UTSW |
11 |
78,177,317 (GRCm39) |
splice site |
probably null |
|
R0281:Bltp2
|
UTSW |
11 |
78,162,750 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0396:Bltp2
|
UTSW |
11 |
78,159,203 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0666:Bltp2
|
UTSW |
11 |
78,168,038 (GRCm39) |
nonsense |
probably null |
|
R0666:Bltp2
|
UTSW |
11 |
78,178,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R1313:Bltp2
|
UTSW |
11 |
78,156,498 (GRCm39) |
missense |
probably benign |
0.02 |
R1313:Bltp2
|
UTSW |
11 |
78,156,498 (GRCm39) |
missense |
probably benign |
0.02 |
R1443:Bltp2
|
UTSW |
11 |
78,153,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R1485:Bltp2
|
UTSW |
11 |
78,176,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R1500:Bltp2
|
UTSW |
11 |
78,174,958 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1537:Bltp2
|
UTSW |
11 |
78,180,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Bltp2
|
UTSW |
11 |
78,166,000 (GRCm39) |
missense |
probably benign |
0.44 |
R1702:Bltp2
|
UTSW |
11 |
78,179,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1804:Bltp2
|
UTSW |
11 |
78,164,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Bltp2
|
UTSW |
11 |
78,178,576 (GRCm39) |
missense |
probably damaging |
0.97 |
R1852:Bltp2
|
UTSW |
11 |
78,159,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Bltp2
|
UTSW |
11 |
78,178,755 (GRCm39) |
unclassified |
probably benign |
|
R1986:Bltp2
|
UTSW |
11 |
78,165,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Bltp2
|
UTSW |
11 |
78,158,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Bltp2
|
UTSW |
11 |
78,159,575 (GRCm39) |
nonsense |
probably null |
|
R2113:Bltp2
|
UTSW |
11 |
78,159,598 (GRCm39) |
missense |
probably benign |
0.02 |
R3692:Bltp2
|
UTSW |
11 |
78,160,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R3788:Bltp2
|
UTSW |
11 |
78,179,123 (GRCm39) |
critical splice donor site |
probably null |
|
R3835:Bltp2
|
UTSW |
11 |
78,169,911 (GRCm39) |
missense |
probably benign |
0.17 |
R3882:Bltp2
|
UTSW |
11 |
78,153,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R3943:Bltp2
|
UTSW |
11 |
78,160,350 (GRCm39) |
nonsense |
probably null |
|
R3944:Bltp2
|
UTSW |
11 |
78,160,350 (GRCm39) |
nonsense |
probably null |
|
R3945:Bltp2
|
UTSW |
11 |
78,180,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R4196:Bltp2
|
UTSW |
11 |
78,154,382 (GRCm39) |
intron |
probably benign |
|
R4510:Bltp2
|
UTSW |
11 |
78,168,154 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4511:Bltp2
|
UTSW |
11 |
78,168,154 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4756:Bltp2
|
UTSW |
11 |
78,154,854 (GRCm39) |
missense |
probably damaging |
0.98 |
R5337:Bltp2
|
UTSW |
11 |
78,156,034 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5419:Bltp2
|
UTSW |
11 |
78,162,916 (GRCm39) |
nonsense |
probably null |
|
R5572:Bltp2
|
UTSW |
11 |
78,155,393 (GRCm39) |
missense |
probably damaging |
0.98 |
R5719:Bltp2
|
UTSW |
11 |
78,164,071 (GRCm39) |
missense |
probably damaging |
0.97 |
R5754:Bltp2
|
UTSW |
11 |
78,160,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5890:Bltp2
|
UTSW |
11 |
78,164,096 (GRCm39) |
nonsense |
probably null |
|
R5919:Bltp2
|
UTSW |
11 |
78,180,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Bltp2
|
UTSW |
11 |
78,175,064 (GRCm39) |
missense |
probably benign |
0.06 |
R5976:Bltp2
|
UTSW |
11 |
78,174,955 (GRCm39) |
missense |
probably benign |
0.00 |
R5999:Bltp2
|
UTSW |
11 |
78,176,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Bltp2
|
UTSW |
11 |
78,162,210 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6180:Bltp2
|
UTSW |
11 |
78,164,084 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6484:Bltp2
|
UTSW |
11 |
78,169,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6721:Bltp2
|
UTSW |
11 |
78,170,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R6800:Bltp2
|
UTSW |
11 |
78,179,105 (GRCm39) |
missense |
probably benign |
0.13 |
R6911:Bltp2
|
UTSW |
11 |
78,159,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R6923:Bltp2
|
UTSW |
11 |
78,165,452 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7283:Bltp2
|
UTSW |
11 |
78,165,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Bltp2
|
UTSW |
11 |
78,163,709 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7339:Bltp2
|
UTSW |
11 |
78,163,210 (GRCm39) |
critical splice donor site |
probably null |
|
R7409:Bltp2
|
UTSW |
11 |
78,159,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Bltp2
|
UTSW |
11 |
78,157,941 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7704:Bltp2
|
UTSW |
11 |
78,159,570 (GRCm39) |
missense |
probably benign |
0.29 |
R7793:Bltp2
|
UTSW |
11 |
78,164,031 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8051:Bltp2
|
UTSW |
11 |
78,164,238 (GRCm39) |
intron |
probably benign |
|
R8186:Bltp2
|
UTSW |
11 |
78,177,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R8256:Bltp2
|
UTSW |
11 |
78,167,979 (GRCm39) |
missense |
probably benign |
0.00 |
R8518:Bltp2
|
UTSW |
11 |
78,156,064 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8677:Bltp2
|
UTSW |
11 |
78,174,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8736:Bltp2
|
UTSW |
11 |
78,178,875 (GRCm39) |
missense |
probably benign |
0.26 |
R8829:Bltp2
|
UTSW |
11 |
78,158,064 (GRCm39) |
missense |
probably benign |
0.02 |
R8832:Bltp2
|
UTSW |
11 |
78,158,064 (GRCm39) |
missense |
probably benign |
0.02 |
R9006:Bltp2
|
UTSW |
11 |
78,164,345 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9014:Bltp2
|
UTSW |
11 |
78,160,488 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9184:Bltp2
|
UTSW |
11 |
78,162,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R9473:Bltp2
|
UTSW |
11 |
78,174,983 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Bltp2
|
UTSW |
11 |
78,177,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATACACCACCGTTTGCTTTGGG -3'
(R):5'- AACCATGCCGATGCAGTTAGGAG -3'
Sequencing Primer
(F):5'- AATTCCATCTCCCTGGGTAAGG -3'
(R):5'- TTAGGAGACCCTGATGCAGC -3'
|
Posted On |
2013-07-11 |