Incidental Mutation 'R8829:Bltp2'
ID |
673705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp2
|
Ensembl Gene |
ENSMUSG00000010277 |
Gene Name |
bridge-like lipid transfer protein family member 2 |
Synonyms |
2610507B11Rik |
MMRRC Submission |
068731-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R8829 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78158064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 409
(K409E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
AlphaFold |
Q5SYL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010421
AA Change: K409E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000010421 Gene: ENSMUSG00000010277 AA Change: K409E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
T |
3: 59,939,240 (GRCm39) |
I5F |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,571,881 (GRCm39) |
D4814V |
probably damaging |
Het |
Adgrl1 |
A |
G |
8: 84,665,458 (GRCm39) |
N1382D |
|
Het |
Adh6b |
T |
C |
3: 138,055,463 (GRCm39) |
V71A |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,294,649 (GRCm39) |
M953L |
probably benign |
Het |
B3galt9 |
T |
A |
2: 34,728,634 (GRCm39) |
N144K |
probably benign |
Het |
Bach2 |
A |
T |
4: 32,562,028 (GRCm39) |
E165V |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,397,269 (GRCm39) |
V1078A |
probably benign |
Het |
Ccno |
A |
G |
13: 113,126,239 (GRCm39) |
N236S |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,917,633 (GRCm39) |
D255V |
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,865,930 (GRCm39) |
Y278F |
probably damaging |
Het |
Cdk17 |
C |
T |
10: 93,042,920 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,717,582 (GRCm39) |
D2216G |
probably benign |
Het |
Cenpu |
T |
C |
8: 47,026,496 (GRCm39) |
L294P |
probably damaging |
Het |
Chct1 |
A |
G |
11: 85,062,037 (GRCm39) |
D12G |
probably damaging |
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Ctnna2 |
G |
A |
6: 77,582,205 (GRCm39) |
R352* |
probably null |
Het |
D630003M21Rik |
C |
A |
2: 158,058,856 (GRCm39) |
C348F |
probably damaging |
Het |
Dcdc2a |
C |
T |
13: 25,294,051 (GRCm39) |
Q236* |
probably null |
Het |
Ddx60 |
T |
G |
8: 62,393,695 (GRCm39) |
S44A |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,059,720 (GRCm39) |
|
probably null |
Het |
Drd5 |
G |
A |
5: 38,477,078 (GRCm39) |
V24M |
probably benign |
Het |
Dthd1 |
T |
C |
5: 62,971,608 (GRCm39) |
S144P |
probably benign |
Het |
Fcna |
C |
A |
2: 25,516,145 (GRCm39) |
R124L |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,918,431 (GRCm39) |
R504G |
probably damaging |
Het |
Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
Gprc6a |
A |
C |
10: 51,491,295 (GRCm39) |
I818R |
probably damaging |
Het |
Hcfc2 |
T |
C |
10: 82,574,179 (GRCm39) |
Y118H |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Htr1d |
A |
T |
4: 136,170,554 (GRCm39) |
H261L |
probably benign |
Het |
Hycc2 |
A |
T |
1: 58,587,832 (GRCm39) |
I127N |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,875,769 (GRCm39) |
F1244I |
probably damaging |
Het |
Ighv1-63 |
A |
G |
12: 115,459,534 (GRCm39) |
V21A |
probably benign |
Het |
Kit |
A |
G |
5: 75,799,791 (GRCm39) |
N508D |
probably benign |
Het |
Klk1b22 |
A |
T |
7: 43,764,277 (GRCm39) |
E68D |
probably benign |
Het |
Knstrn |
C |
T |
2: 118,654,222 (GRCm39) |
Q211* |
probably null |
Het |
Krtap2-4 |
A |
T |
11: 99,505,246 (GRCm39) |
C122S |
unknown |
Het |
Map3k1 |
T |
G |
13: 111,889,015 (GRCm39) |
H1314P |
possibly damaging |
Het |
Mgat4c |
A |
T |
10: 102,214,084 (GRCm39) |
K22N |
probably damaging |
Het |
Mpo |
T |
A |
11: 87,694,250 (GRCm39) |
F660Y |
probably damaging |
Het |
Myb |
A |
T |
10: 21,021,130 (GRCm39) |
L433H |
probably damaging |
Het |
Myo1c |
G |
A |
11: 75,561,072 (GRCm39) |
V793I |
probably benign |
Het |
Nckap1l |
T |
A |
15: 103,387,242 (GRCm39) |
S706T |
probably benign |
Het |
Ncoa3 |
A |
G |
2: 165,892,068 (GRCm39) |
Y148C |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,583,330 (GRCm39) |
S1432T |
unknown |
Het |
Odf2l |
C |
T |
3: 144,833,820 (GRCm39) |
S160L |
probably benign |
Het |
Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
Or56b34 |
T |
C |
7: 104,937,435 (GRCm39) |
L45P |
possibly damaging |
Het |
Or6x1 |
T |
A |
9: 40,099,209 (GRCm39) |
F266Y |
probably benign |
Het |
Or8d23 |
G |
T |
9: 38,842,190 (GRCm39) |
C241F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,838,464 (GRCm39) |
W1424R |
|
Het |
Pcx |
A |
G |
19: 4,651,968 (GRCm39) |
D72G |
probably damaging |
Het |
Pebp4 |
A |
G |
14: 70,285,916 (GRCm39) |
D193G |
probably benign |
Het |
Pi4kb |
C |
T |
3: 94,900,344 (GRCm39) |
T326M |
probably damaging |
Het |
Piezo1 |
A |
C |
8: 123,217,753 (GRCm39) |
M1265R |
|
Het |
Pip4k2c |
A |
T |
10: 127,037,037 (GRCm39) |
H177Q |
probably damaging |
Het |
Pramel48 |
G |
T |
5: 95,630,939 (GRCm39) |
C272F |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Ptger3 |
A |
G |
3: 157,273,423 (GRCm39) |
T257A |
probably damaging |
Het |
Relt |
T |
A |
7: 100,499,479 (GRCm39) |
S147C |
probably damaging |
Het |
Scap |
A |
G |
9: 110,209,271 (GRCm39) |
Y648C |
probably damaging |
Het |
Scn9a |
T |
A |
2: 66,313,961 (GRCm39) |
D1919V |
probably benign |
Het |
Septin8 |
G |
A |
11: 53,422,865 (GRCm39) |
V25I |
probably damaging |
Het |
Serpinb2 |
A |
G |
1: 107,443,257 (GRCm39) |
I19V |
probably benign |
Het |
Slc16a6 |
A |
G |
11: 109,345,932 (GRCm39) |
Y444H |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,058,685 (GRCm39) |
E7276G |
probably benign |
Het |
Syt1 |
C |
A |
10: 108,478,193 (GRCm39) |
C77F |
probably benign |
Het |
Tcf20 |
T |
A |
15: 82,739,915 (GRCm39) |
K512M |
probably damaging |
Het |
Tomm7 |
T |
C |
5: 24,049,047 (GRCm39) |
K9E |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,176,591 (GRCm39) |
S288P |
probably benign |
Het |
Trem3 |
T |
C |
17: 48,556,865 (GRCm39) |
V112A |
probably benign |
Het |
Ttbk1 |
C |
A |
17: 46,757,821 (GRCm39) |
G938W |
probably damaging |
Het |
Vmn1r178 |
G |
A |
7: 23,593,264 (GRCm39) |
C104Y |
probably damaging |
Het |
Zpr1 |
T |
A |
9: 46,192,344 (GRCm39) |
Y418* |
probably null |
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 |
R0624:Bltp2
|
UTSW |
11 |
78,159,283 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GGCCAGTTCTGGGAATAAAACCC -3'
(R):5'- TGTGCTAGGTACCGAGGATG -3'
Sequencing Primer
(F):5'- CATACTTGGGGTCTTCTCATTCCCAG -3'
(R):5'- TGTGCTAGGTACCGAGGATGAAAAC -3'
|
Posted On |
2021-07-15 |