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: 0.954)
|
| 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 |
Incidental Mutation