Incidental Mutation 'R0666:Bltp2'
ID |
62033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp2
|
Ensembl Gene |
ENSMUSG00000010277 |
Gene Name |
bridge-like lipid transfer protein family member 2 |
Synonyms |
2610507B11Rik |
MMRRC Submission |
038851-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R0666 (G1)
|
Quality Score |
146 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 78178813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 2026
(M2026R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
[ENSMUST00000046361]
|
AlphaFold |
Q5SYL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010421
AA Change: M2026R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000010421 Gene: ENSMUSG00000010277 AA Change: M2026R
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 |
probably benign
Transcript: ENSMUST00000046361
|
SMART Domains |
Protein: ENSMUSP00000038139 Gene: ENSMUSG00000037593
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
73 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
99 |
268 |
1.7e-39 |
PFAM |
Pfam:Pkinase_Tyr
|
100 |
262 |
7.8e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122937
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147795
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147549
|
Meta Mutation Damage Score |
0.7821 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (89/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
A |
12: 52,958,591 (GRCm39) |
V782E |
probably damaging |
Het |
Atg9a |
A |
G |
1: 75,161,734 (GRCm39) |
L604P |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,689,974 (GRCm39) |
I482V |
probably benign |
Het |
Ccdc18 |
T |
G |
5: 108,311,530 (GRCm39) |
V412G |
probably benign |
Het |
Ccn6 |
T |
C |
10: 39,027,285 (GRCm39) |
R316G |
probably benign |
Het |
Cct6a |
A |
G |
5: 129,871,449 (GRCm39) |
|
noncoding transcript |
Het |
Clpx |
A |
G |
9: 65,217,507 (GRCm39) |
N25S |
probably damaging |
Het |
Cnpy2 |
T |
A |
10: 128,162,894 (GRCm39) |
C171* |
probably null |
Het |
Cntnap3 |
C |
T |
13: 64,905,211 (GRCm39) |
D857N |
probably damaging |
Het |
Col5a1 |
A |
G |
2: 27,922,697 (GRCm39) |
Y255C |
probably damaging |
Het |
Coro7 |
A |
T |
16: 4,449,775 (GRCm39) |
F638Y |
possibly damaging |
Het |
Cpd |
A |
G |
11: 76,673,153 (GRCm39) |
F1331L |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,119,063 (GRCm39) |
I1842N |
possibly damaging |
Het |
Dgkg |
T |
A |
16: 22,381,480 (GRCm39) |
D490V |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,976,284 (GRCm39) |
M1255K |
probably benign |
Het |
E2f1 |
A |
G |
2: 154,402,849 (GRCm39) |
V306A |
probably benign |
Het |
Entpd1 |
A |
G |
19: 40,648,350 (GRCm39) |
|
probably benign |
Het |
Esrrb |
T |
A |
12: 86,552,676 (GRCm39) |
I222N |
probably benign |
Het |
Flt4 |
G |
T |
11: 49,516,274 (GRCm39) |
A126S |
possibly damaging |
Het |
Galnt11 |
C |
T |
5: 25,457,145 (GRCm39) |
T237I |
possibly damaging |
Het |
Galnt2l |
A |
T |
8: 122,997,727 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,250,983 (GRCm39) |
|
probably benign |
Het |
H2-T9 |
T |
C |
17: 36,438,726 (GRCm39) |
T222A |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,392,170 (GRCm39) |
|
probably benign |
Het |
Hsph1 |
T |
C |
5: 149,554,967 (GRCm39) |
Y105C |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,411,664 (GRCm39) |
T358A |
probably benign |
Het |
Il2ra |
C |
T |
2: 11,647,884 (GRCm39) |
|
probably benign |
Het |
Kbtbd4 |
G |
T |
2: 90,744,459 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,781,255 (GRCm39) |
|
probably benign |
Het |
Kng2 |
A |
G |
16: 22,815,872 (GRCm39) |
|
probably benign |
Het |
Lap3 |
C |
T |
5: 45,669,270 (GRCm39) |
T473I |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,641,273 (GRCm39) |
|
probably null |
Het |
Map1s |
A |
G |
8: 71,366,696 (GRCm39) |
N534D |
possibly damaging |
Het |
Mtg1 |
G |
A |
7: 139,724,257 (GRCm39) |
V122I |
probably benign |
Het |
Myadm |
T |
A |
7: 3,345,865 (GRCm39) |
I209K |
probably damaging |
Het |
Ntsr2 |
G |
A |
12: 16,703,981 (GRCm39) |
V75I |
probably benign |
Het |
Or4b1b |
A |
T |
2: 90,112,212 (GRCm39) |
S236T |
probably damaging |
Het |
Or8u10 |
G |
A |
2: 85,915,557 (GRCm39) |
A188V |
probably benign |
Het |
Pfn1 |
T |
C |
11: 70,545,192 (GRCm39) |
T39A |
probably benign |
Het |
Pipox |
T |
A |
11: 77,774,651 (GRCm39) |
K144M |
probably benign |
Het |
Plekhh1 |
G |
A |
12: 79,115,889 (GRCm39) |
E811K |
probably damaging |
Het |
Pnpla3 |
T |
A |
15: 84,063,506 (GRCm39) |
W295R |
probably benign |
Het |
Prkacb |
T |
A |
3: 146,457,273 (GRCm39) |
T136S |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,161,124 (GRCm39) |
N473I |
probably benign |
Het |
Rbp4 |
G |
A |
19: 38,106,908 (GRCm39) |
T127M |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rps3a1 |
G |
A |
3: 86,045,424 (GRCm39) |
|
probably benign |
Het |
Scg3 |
G |
T |
9: 75,551,222 (GRCm39) |
Y429* |
probably null |
Het |
Shisal2b |
G |
T |
13: 104,994,862 (GRCm39) |
T95K |
possibly damaging |
Het |
Spag5 |
T |
C |
11: 78,204,222 (GRCm39) |
S492P |
probably damaging |
Het |
St7 |
T |
A |
6: 17,934,238 (GRCm39) |
M540K |
probably damaging |
Het |
Stxbp3 |
C |
A |
3: 108,712,618 (GRCm39) |
V281F |
possibly damaging |
Het |
Sun5 |
A |
G |
2: 153,700,968 (GRCm39) |
V242A |
possibly damaging |
Het |
Susd5 |
G |
T |
9: 113,924,852 (GRCm39) |
R245L |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 75,969,787 (GRCm39) |
E954G |
probably damaging |
Het |
Synpo2 |
A |
T |
3: 122,907,708 (GRCm39) |
V536E |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 133,032,405 (GRCm39) |
I118V |
probably benign |
Het |
Tbx18 |
C |
A |
9: 87,606,462 (GRCm39) |
V228L |
probably benign |
Het |
Tdrd9 |
T |
A |
12: 111,974,014 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
C |
A |
10: 78,586,381 (GRCm39) |
L223F |
probably benign |
Het |
Tg |
T |
C |
15: 66,609,370 (GRCm39) |
M310T |
probably benign |
Het |
Ticam2 |
T |
A |
18: 46,693,718 (GRCm39) |
D123V |
probably damaging |
Het |
Timm23 |
A |
G |
14: 31,920,993 (GRCm39) |
|
probably benign |
Het |
Tinag |
C |
T |
9: 76,912,969 (GRCm39) |
R280H |
probably benign |
Het |
Topbp1 |
G |
A |
9: 103,186,011 (GRCm39) |
R51K |
probably benign |
Het |
Tor1b |
A |
G |
2: 30,843,925 (GRCm39) |
I121V |
probably damaging |
Het |
Tpmt |
C |
A |
13: 47,185,930 (GRCm39) |
G148V |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,548 (GRCm39) |
E410G |
probably damaging |
Het |
Ubash3b |
C |
A |
9: 40,958,360 (GRCm39) |
V7L |
possibly damaging |
Het |
Ube2o |
C |
T |
11: 116,433,661 (GRCm39) |
E686K |
probably damaging |
Het |
Unc13d |
T |
A |
11: 115,960,318 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
T |
7: 23,754,601 (GRCm39) |
M135L |
probably benign |
Het |
Xkr8 |
T |
C |
4: 132,459,649 (GRCm39) |
Y43C |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,168,697 (GRCm39) |
N935K |
unknown |
Het |
Zc3h7a |
G |
A |
16: 10,974,167 (GRCm39) |
|
probably benign |
Het |
Zfp84 |
C |
T |
7: 29,476,276 (GRCm39) |
H323Y |
probably damaging |
Het |
Zfp873 |
G |
T |
10: 81,896,595 (GRCm39) |
S442I |
possibly damaging |
Het |
Zfp938 |
A |
G |
10: 82,061,606 (GRCm39) |
L338P |
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 |
|
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'- GCAAAGACCGTTGCTTCAGTTCC -3'
(R):5'- TGCAAACCAACAGTGACTCTCTTCC -3'
Sequencing Primer
(F):5'- ACAATGCCTTGGGAACTCTTG -3'
(R):5'- AACAGTGACTCTCTTCCTGAAGC -3'
|
Posted On |
2013-07-30 |