Incidental Mutation 'R1702:Bltp2'
| ID |
189818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bltp2
|
| Ensembl Gene |
ENSMUSG00000010277 |
| Gene Name |
bridge-like lipid transfer protein family member 2 |
| Synonyms |
2610507B11Rik |
| MMRRC Submission |
039735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78179854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 2126
(C2126S)
|
| 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: C2126S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: C2126S
| 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: ENSMUST00000147549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147795
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,981,925 (GRCm39) |
V1080A |
probably benign |
Het |
| Abcg4 |
A |
C |
9: 44,186,370 (GRCm39) |
V553G |
probably damaging |
Het |
| Ache |
T |
C |
5: 137,289,251 (GRCm39) |
V319A |
possibly damaging |
Het |
| Acsm2 |
T |
A |
7: 119,172,787 (GRCm39) |
M134K |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,749,548 (GRCm39) |
S494T |
probably benign |
Het |
| Asic3 |
A |
T |
5: 24,620,454 (GRCm39) |
T202S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,779 (GRCm39) |
H886L |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,499,491 (GRCm39) |
I126K |
probably damaging |
Het |
| Cmklr1 |
T |
G |
5: 113,751,903 (GRCm39) |
K366T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,061,848 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
A |
G |
6: 55,069,520 (GRCm39) |
F378S |
probably damaging |
Het |
| Deaf1 |
C |
G |
7: 140,894,867 (GRCm39) |
R303T |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,021 (GRCm39) |
N1343Y |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,544,509 (GRCm39) |
K99E |
possibly damaging |
Het |
| Dpp4 |
A |
T |
2: 62,216,773 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,206,421 (GRCm39) |
V598A |
probably damaging |
Het |
| Ece2 |
C |
T |
16: 20,449,996 (GRCm39) |
R136C |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,581,832 (GRCm39) |
P58L |
probably benign |
Het |
| Egf |
C |
A |
3: 129,484,460 (GRCm39) |
V453L |
probably benign |
Het |
| Egr3 |
T |
A |
14: 70,317,216 (GRCm39) |
F342L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,164,063 (GRCm39) |
I434N |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,512 (GRCm39) |
T936A |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,500 (GRCm39) |
E180V |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,634,848 (GRCm39) |
T112A |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,754,242 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,603,089 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
T |
A |
7: 42,469,655 (GRCm39) |
Q156H |
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,189,287 (GRCm39) |
S273T |
probably damaging |
Het |
| Homez |
T |
A |
14: 55,094,452 (GRCm39) |
T419S |
probably damaging |
Het |
| Igfbp6 |
T |
A |
15: 102,056,617 (GRCm39) |
Y184* |
probably null |
Het |
| Il11 |
A |
G |
7: 4,776,733 (GRCm39) |
S86P |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,197 (GRCm39) |
N270S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,066,525 (GRCm39) |
R1119G |
probably benign |
Het |
| Lamp3 |
G |
T |
16: 19,494,822 (GRCm39) |
N294K |
probably benign |
Het |
| Mars1 |
T |
C |
10: 127,145,948 (GRCm39) |
I113M |
possibly damaging |
Het |
| Mgat5b |
A |
G |
11: 116,839,485 (GRCm39) |
T334A |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,518 (GRCm39) |
I65T |
probably benign |
Het |
| Mmrn2 |
A |
T |
14: 34,119,871 (GRCm39) |
N247I |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,236,752 (GRCm39) |
N322K |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,359,883 (GRCm39) |
H551R |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,742,314 (GRCm39) |
V942E |
probably benign |
Het |
| Nes |
A |
G |
3: 87,883,286 (GRCm39) |
E515G |
probably benign |
Het |
| Nfatc3 |
T |
G |
8: 106,818,792 (GRCm39) |
S503R |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,158,339 (GRCm39) |
|
probably null |
Het |
| Noxa1 |
A |
G |
2: 24,982,596 (GRCm39) |
V73A |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,514,302 (GRCm39) |
E83D |
probably damaging |
Het |
| Or12j3 |
A |
T |
7: 139,952,655 (GRCm39) |
Y289* |
probably null |
Het |
| Or4z4 |
C |
A |
19: 12,076,530 (GRCm39) |
V158L |
probably benign |
Het |
| Or5ac23 |
C |
A |
16: 59,149,504 (GRCm39) |
V123L |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,839 (GRCm39) |
Y284C |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,187 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
A |
G |
5: 8,562,318 (GRCm39) |
V350A |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,148,567 (GRCm39) |
D993N |
probably damaging |
Het |
| Sec24c |
G |
T |
14: 20,736,641 (GRCm39) |
G226V |
probably null |
Het |
| Septin11 |
T |
A |
5: 93,304,783 (GRCm39) |
I200N |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,384,099 (GRCm39) |
G14C |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,270,862 (GRCm39) |
K153R |
possibly damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,297,452 (GRCm39) |
D5G |
possibly damaging |
Het |
| Stoml3 |
A |
T |
3: 53,412,852 (GRCm39) |
T169S |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,559,125 (GRCm39) |
I83K |
possibly damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,154,957 (GRCm39) |
Q1389L |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,943,923 (GRCm39) |
D180E |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,271,462 (GRCm39) |
V925D |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,809,708 (GRCm39) |
V130A |
probably damaging |
Het |
| Tpp2 |
C |
T |
1: 44,029,708 (GRCm39) |
P997L |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,722,784 (GRCm39) |
I127N |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,661,562 (GRCm39) |
F142L |
possibly damaging |
Het |
| Usf3 |
C |
T |
16: 44,039,995 (GRCm39) |
Q1492* |
probably null |
Het |
| Vcp |
T |
C |
4: 42,990,840 (GRCm39) |
D205G |
probably damaging |
Het |
| Vmn1r180 |
G |
A |
7: 23,652,394 (GRCm39) |
V186I |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,206,267 (GRCm39) |
S496P |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,441,135 (GRCm39) |
I480T |
probably benign |
Het |
| Xylt2 |
T |
A |
11: 94,559,571 (GRCm39) |
H357L |
probably damaging |
Het |
| Zbed4 |
T |
C |
15: 88,665,056 (GRCm39) |
S375P |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,100 (GRCm39) |
Y266* |
probably null |
Het |
| Zfp600 |
A |
G |
4: 146,133,497 (GRCm39) |
T722A |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,265,424 (GRCm39) |
H55L |
possibly 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 |
|
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'- AAGTCTTCTCCAGGACTGAGAGTGG -3'
(R):5'- CAGGGTAGCACCAAGTTAAGGTCG -3'
Sequencing Primer
(F):5'- CTGAGAGTGGAGTAATTTAGCATC -3'
(R):5'- GAGCTGCCATTTTGAATCTAAGCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation