Incidental Mutation 'R1500:Bltp2'
| ID |
169197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bltp2
|
| Ensembl Gene |
ENSMUSG00000010277 |
| Gene Name |
bridge-like lipid transfer protein family member 2 |
| Synonyms |
2610507B11Rik |
| MMRRC Submission |
039551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R1500 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78174958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1698
(Q1698K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
| AlphaFold |
Q5SYL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010421
AA Change: Q1698K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: Q1698K
| 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: ENSMUST00000126928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147432
|
| Meta Mutation Damage Score |
0.3181 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
95% (81/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
A |
G |
17: 31,330,253 (GRCm39) |
D518G |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,184,810 (GRCm39) |
D96E |
probably benign |
Het |
| Actbl2 |
G |
A |
13: 111,391,854 (GRCm39) |
R63Q |
probably damaging |
Het |
| Adamts6 |
T |
A |
13: 104,449,389 (GRCm39) |
H266Q |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,263,205 (GRCm39) |
V75A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,726,631 (GRCm39) |
S888P |
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,325,050 (GRCm39) |
F534S |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Bcam |
T |
A |
7: 19,492,889 (GRCm39) |
D484V |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,713 (GRCm39) |
Y1240H |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,028,614 (GRCm39) |
Y500C |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,490,121 (GRCm39) |
A478V |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,715 (GRCm39) |
D122G |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,976,564 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,991,879 (GRCm39) |
K1230E |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| E330020D12Rik |
A |
T |
1: 153,284,125 (GRCm39) |
|
noncoding transcript |
Het |
| Ece2 |
T |
C |
16: 20,462,992 (GRCm39) |
L639P |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,416,025 (GRCm39) |
V658E |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,319,804 (GRCm39) |
T632I |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,993,617 (GRCm39) |
T883A |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,820,789 (GRCm39) |
V198A |
probably benign |
Het |
| Fktn |
G |
T |
4: 53,735,065 (GRCm39) |
M234I |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,340,966 (GRCm39) |
S400P |
probably benign |
Het |
| Gldc |
A |
C |
19: 30,091,225 (GRCm39) |
V790G |
possibly damaging |
Het |
| Gm14496 |
A |
C |
2: 181,633,026 (GRCm39) |
Q3P |
probably benign |
Het |
| H2-D1 |
G |
A |
17: 35,482,564 (GRCm39) |
E95K |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,409,521 (GRCm39) |
E14G |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,957,558 (GRCm39) |
N51K |
possibly damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,800,635 (GRCm39) |
D14G |
possibly damaging |
Het |
| Krt84 |
A |
G |
15: 101,438,659 (GRCm39) |
V276A |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,348,948 (GRCm39) |
I660T |
possibly damaging |
Het |
| Lcmt2 |
A |
T |
2: 120,970,488 (GRCm39) |
S198R |
probably benign |
Het |
| Lcn6 |
G |
A |
2: 25,567,131 (GRCm39) |
R44H |
probably benign |
Het |
| Lrfn5 |
A |
T |
12: 61,886,527 (GRCm39) |
H105L |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,784,091 (GRCm39) |
R473K |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,921,042 (GRCm39) |
T495A |
probably damaging |
Het |
| Marveld3 |
T |
G |
8: 110,675,174 (GRCm39) |
|
probably null |
Het |
| Mbd3 |
T |
C |
10: 80,230,420 (GRCm39) |
D160G |
possibly damaging |
Het |
| Mrc2 |
T |
G |
11: 105,238,551 (GRCm39) |
C1233G |
probably damaging |
Het |
| Ms4a13 |
T |
G |
19: 11,161,225 (GRCm39) |
T105P |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,480,951 (GRCm39) |
Y306H |
probably damaging |
Het |
| Muc3a |
T |
C |
5: 137,244,958 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,470,811 (GRCm39) |
Y15F |
probably benign |
Het |
| Nae1 |
A |
T |
8: 105,250,216 (GRCm39) |
Y226N |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,267,316 (GRCm39) |
S715G |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,633 (GRCm39) |
M282L |
probably benign |
Het |
| Or2ag17 |
T |
C |
7: 106,390,028 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or4s2b |
T |
A |
2: 88,508,219 (GRCm39) |
S7T |
possibly damaging |
Het |
| Or7g26 |
A |
T |
9: 19,230,612 (GRCm39) |
S267C |
probably damaging |
Het |
| Or8g55 |
G |
T |
9: 39,784,707 (GRCm39) |
M45I |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,069,129 (GRCm39) |
T123A |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,466,691 (GRCm39) |
N62I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,408,890 (GRCm39) |
V2459A |
probably damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,439 (GRCm39) |
Q398L |
unknown |
Het |
| Prkab2 |
T |
C |
3: 97,571,263 (GRCm39) |
L165S |
probably damaging |
Het |
| Prl3d2 |
C |
G |
13: 27,305,689 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,143,472 (GRCm39) |
G435D |
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,236,729 (GRCm39) |
L224P |
probably damaging |
Het |
| Rasl2-9 |
C |
T |
7: 5,128,441 (GRCm39) |
W163* |
probably null |
Het |
| Rgs5 |
A |
G |
1: 169,517,983 (GRCm39) |
|
probably null |
Het |
| Rnf19b |
T |
C |
4: 128,972,754 (GRCm39) |
L255P |
probably damaging |
Het |
| Rp9 |
A |
C |
9: 22,368,751 (GRCm39) |
N69K |
probably damaging |
Het |
| Sh3bp4 |
G |
T |
1: 89,073,210 (GRCm39) |
S686I |
probably damaging |
Het |
| Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
| Spp2 |
C |
A |
1: 88,340,015 (GRCm39) |
Q5K |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Syncrip |
A |
C |
9: 88,361,949 (GRCm39) |
S55R |
probably damaging |
Het |
| Tacc3 |
T |
C |
5: 33,818,652 (GRCm39) |
L29P |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,065,120 (GRCm39) |
T1517A |
probably damaging |
Het |
| Tmem140 |
A |
G |
6: 34,849,660 (GRCm39) |
M59V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,575,872 (GRCm39) |
A25007E |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,297,615 (GRCm39) |
T253A |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,722,399 (GRCm39) |
L374P |
probably damaging |
Het |
| Vmn1r42 |
T |
A |
6: 89,822,483 (GRCm39) |
I29L |
probably benign |
Het |
| Vmn2r94 |
C |
T |
17: 18,477,242 (GRCm39) |
V390M |
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,552,026 (GRCm39) |
Y113H |
possibly damaging |
Het |
| Wdr20 |
T |
C |
12: 110,760,464 (GRCm39) |
M450T |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,061,770 (GRCm39) |
V557A |
unknown |
Het |
| Zpld1 |
T |
C |
16: 55,053,935 (GRCm39) |
N286D |
probably 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 |
|
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 |
|
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'- CCACACCTGGTCCCAATTTATCTGTC -3'
(R):5'- CAATAGCGCACAGGAACCCCTTTAAT -3'
Sequencing Primer
(F):5'- ttccaaccactgagccac -3'
(R):5'- CCATGCAGGAAATAACTACTTTCAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation