Incidental Mutation 'R5919:Bltp2'
| ID |
462578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bltp2
|
| Ensembl Gene |
ENSMUSG00000010277 |
| Gene Name |
bridge-like lipid transfer protein family member 2 |
| Synonyms |
2610507B11Rik |
| MMRRC Submission |
044116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78180176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 2152
(N2152I)
|
| 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: N2152I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: N2152I
| 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: ENSMUST00000136011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147795
|
| Meta Mutation Damage Score |
0.9164 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
C |
1: 151,791,249 (GRCm39) |
D104G |
probably damaging |
Het |
| 6030458C11Rik |
A |
T |
15: 12,823,754 (GRCm39) |
H40Q |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,659,239 (GRCm39) |
D648Y |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,417 (GRCm39) |
D547E |
probably benign |
Het |
| Aebp1 |
A |
T |
11: 5,821,421 (GRCm39) |
M607L |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,686,116 (GRCm39) |
Y401H |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,962 (GRCm39) |
T163A |
probably benign |
Het |
| Camk2b |
A |
G |
11: 5,929,718 (GRCm39) |
S331P |
probably damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,231,692 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,096,146 (GRCm39) |
N1651D |
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,414,700 (GRCm39) |
I370F |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,719,703 (GRCm39) |
H416L |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,509,580 (GRCm39) |
R3030H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,147,294 (GRCm39) |
V540E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,991 (GRCm39) |
R710H |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,983 (GRCm39) |
I851V |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,344,146 (GRCm39) |
V642A |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,486 (GRCm39) |
L1139P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,910 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,822,953 (GRCm39) |
N6229D |
possibly damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,385 (GRCm39) |
E144G |
possibly damaging |
Het |
| Gas2l3 |
G |
A |
10: 89,252,917 (GRCm39) |
R243W |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,815,855 (GRCm39) |
R1406W |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,976,249 (GRCm39) |
H180R |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,006 (GRCm39) |
Q1261L |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,001 (GRCm39) |
V230A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,997,202 (GRCm39) |
I42F |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,477 (GRCm39) |
K799E |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,303,552 (GRCm39) |
I84F |
probably damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,163,907 (GRCm39) |
Y176C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,551,509 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
C |
A |
19: 11,291,661 (GRCm39) |
V13F |
possibly damaging |
Het |
| Muc2 |
T |
A |
7: 141,281,171 (GRCm39) |
V445D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,227,837 (GRCm39) |
M1317K |
possibly damaging |
Het |
| Myof |
T |
A |
19: 38,012,818 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ndufaf1 |
A |
C |
2: 119,490,709 (GRCm39) |
V117G |
possibly damaging |
Het |
| Ndufs1 |
C |
G |
1: 63,182,991 (GRCm39) |
*728S |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,229,906 (GRCm39) |
N1375Y |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,066,329 (GRCm39) |
I149N |
probably damaging |
Het |
| Or9i16 |
A |
G |
19: 13,865,209 (GRCm39) |
Y122H |
probably damaging |
Het |
| Pelo |
C |
A |
13: 115,225,845 (GRCm39) |
C204F |
possibly damaging |
Het |
| Phf11d |
A |
C |
14: 59,593,712 (GRCm39) |
|
probably benign |
Het |
| Rars2 |
T |
C |
4: 34,657,232 (GRCm39) |
L526P |
probably damaging |
Het |
| Rrp1 |
A |
G |
10: 78,241,422 (GRCm39) |
L177P |
probably damaging |
Het |
| S100a9 |
A |
G |
3: 90,602,495 (GRCm39) |
L33P |
probably damaging |
Het |
| Slc4a7 |
A |
G |
14: 14,791,092 (GRCm38) |
D1045G |
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,859 (GRCm39) |
T328I |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,636,405 (GRCm39) |
D232G |
probably damaging |
Het |
| Taar6 |
A |
T |
10: 23,861,168 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmeff2 |
C |
A |
1: 51,171,311 (GRCm39) |
C182* |
probably null |
Het |
| Tmem178 |
T |
A |
17: 81,297,187 (GRCm39) |
C190S |
probably damaging |
Het |
| Trerf1 |
T |
G |
17: 47,634,208 (GRCm39) |
|
noncoding transcript |
Het |
| Trgv6 |
A |
G |
13: 19,374,782 (GRCm39) |
Y16C |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,423 (GRCm39) |
I1046V |
possibly damaging |
Het |
| Vmn1r221 |
A |
T |
13: 23,401,466 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,723 (GRCm39) |
N141S |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,768,419 (GRCm39) |
N398Y |
probably benign |
Het |
| Zfp787 |
T |
G |
7: 6,135,834 (GRCm39) |
Q139P |
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 |
|
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 |
|
|
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'- TCCTGTGAAAGTGGGCCATG -3'
(R):5'- CTGGCCATCTCTTAATACAGCAC -3'
Sequencing Primer
(F):5'- TTTCTGCAGGAGTCAGCCC -3'
(R):5'- TCTCTTAATACAGCACAGAAGAGAAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation