Mutagenetix > Incidental Mutation

Incidental Mutation 'R3945:Bltp2'

307664

Institutional Source

Beutler Lab

Gene Symbol

Bltp2

Ensembl Gene

ENSMUSG00000010277

Gene Name

bridge-like lipid transfer protein family member 2

Synonyms

2610507B11Rik

MMRRC Submission

040926-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78152578-78181449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78180790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2229 (I2229T)

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: I2229T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: I2229T

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

0.1225

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,601 (GRCm39)	L1166P	probably damaging	Het
Actn4	T	C	7: 28,611,661 (GRCm39)		probably null	Het
Adamts17	A	T	7: 66,770,687 (GRCm39)	E905V	probably benign	Het
Adck5	A	G	15: 76,479,400 (GRCm39)	N485S	probably damaging	Het
Agr3	C	A	12: 35,997,512 (GRCm39)		probably benign	Het
Ankrd12	G	A	17: 66,283,098 (GRCm39)	T1921I	probably damaging	Het
Ascl2	T	C	7: 142,521,708 (GRCm39)	S247G	probably benign	Het
Atp7b	T	C	8: 22,510,880 (GRCm39)	E422G	probably benign	Het
C630050I24Rik	C	T	8: 107,845,894 (GRCm39)	R15*	probably null	Het
Cabin1	T	G	10: 75,581,093 (GRCm39)	Q411P	probably damaging	Het
Chrne	T	C	11: 70,507,869 (GRCm39)	I277V	possibly damaging	Het
Coch	A	G	12: 51,648,595 (GRCm39)		probably null	Het
Corin	A	G	5: 72,515,767 (GRCm39)	V429A	probably damaging	Het
Cpa3	A	T	3: 20,279,281 (GRCm39)	N219K	probably damaging	Het
Creb3l1	T	C	2: 91,821,556 (GRCm39)	E273G	probably damaging	Het
Csmd1	A	C	8: 15,960,619 (GRCm39)		probably null	Het
Ddx59	A	G	1: 136,362,356 (GRCm39)	D527G	probably damaging	Het
Defa25	G	A	8: 21,574,506 (GRCm39)	V17I	probably null	Het
Efs	A	G	14: 55,158,108 (GRCm39)		probably benign	Het
Ern2	A	G	7: 121,775,753 (GRCm39)	M447T	probably benign	Het
Fgfr2	C	T	7: 129,779,485 (GRCm39)	E596K	possibly damaging	Het
Filip1	T	C	9: 79,725,649 (GRCm39)	K990R	probably benign	Het
Ipo8	T	A	6: 148,719,615 (GRCm39)	Q110L	probably damaging	Het
Kank4	T	A	4: 98,659,517 (GRCm39)	I854F	probably damaging	Het
Mst1	G	A	9: 107,962,052 (GRCm39)	C681Y	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or1s2	A	G	19: 13,758,786 (GRCm39)	E270G	probably benign	Het
Or4f4b	C	T	2: 111,314,032 (GRCm39)	Q86*	probably null	Het
Pde11a	T	C	2: 75,906,275 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,522,253 (GRCm39)		probably benign	Het
Rcbtb1	G	A	14: 59,462,225 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,176 (GRCm39)	R72H	probably benign	Het
Samd9l	A	T	6: 3,377,029 (GRCm39)	S77R	possibly damaging	Het
Sin3b	A	G	8: 73,460,067 (GRCm39)	D218G	possibly damaging	Het
Slc22a23	A	G	13: 34,367,109 (GRCm39)	I633T	probably damaging	Het
Spen	T	C	4: 141,204,664 (GRCm39)	D1321G	unknown	Het
Ssh2	T	C	11: 77,345,494 (GRCm39)	S1160P	possibly damaging	Het
Synrg	T	A	11: 83,914,232 (GRCm39)	D952E	probably damaging	Het
Tigd3	A	G	19: 5,942,461 (GRCm39)	F223S	probably damaging	Het
Trim66	G	A	7: 109,071,475 (GRCm39)	T608I	possibly damaging	Het
Trmt13	A	G	3: 116,375,167 (GRCm39)	F447S	probably damaging	Het
Trpc2	T	C	7: 101,737,486 (GRCm39)	I800T	possibly damaging	Het
Ugt3a1	A	T	15: 9,370,184 (GRCm39)	I443F	possibly damaging	Het
Vamp2	C	A	11: 68,980,000 (GRCm39)	P24Q	unknown	Het
Vmn1r113	A	G	7: 20,521,637 (GRCm39)	Y143C	probably benign	Het
Vmn1r14	T	A	6: 57,211,254 (GRCm39)	N277K	probably benign	Het
Vmn1r181	T	A	7: 23,683,577 (GRCm39)	V14E	probably damaging	Het
Wdfy4	A	T	14: 32,688,352 (GRCm39)	I3086N	probably damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	probably benign	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
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'- TCCACTGCCAGGTAATCAAAG -3'
(R):5'- CACAATCCCTGGGTCTTCTG -3'

Sequencing Primer
(F):5'- GAAAAACTAAGGCTGAAACCTGC -3'
(R):5'- CTGTGGCCCTGGGTCTAATC -3'

Posted On

2015-04-17