Mutagenetix > Incidental Mutation

Incidental Mutation 'R3882:Bltp2'

312821

Institutional Source

Beutler Lab

Gene Symbol

Bltp2

Ensembl Gene

ENSMUSG00000010277

Gene Name

bridge-like lipid transfer protein family member 2

Synonyms

2610507B11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78152578-78181449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78153526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 24 (W24R)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010421]

AlphaFold

Q5SYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000010421
AA Change: W24R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: W24R

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

noncoding transcript
Transcript: ENSMUST00000125459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141331

Meta Mutation Damage Score

0.4016

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	T	9: 106,312,708 (GRCm39)	T181K	possibly damaging	Het
Adcy4	A	G	14: 56,012,003 (GRCm39)	F581L	probably benign	Het
Amhr2	G	A	15: 102,354,333 (GRCm39)	G48D	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgef17	A	G	7: 100,525,661 (GRCm39)	F1979S	possibly damaging	Het
C2	T	C	17: 35,092,465 (GRCm39)	T191A	probably benign	Het
Cmya5	T	A	13: 93,227,727 (GRCm39)	T2454S	probably benign	Het
Dstn	A	G	2: 143,784,107 (GRCm39)	E150G	probably benign	Het
Dync1h1	G	T	12: 110,595,492 (GRCm39)	V1444F	probably benign	Het
Eif3f	T	C	7: 108,540,162 (GRCm39)	V319A	possibly damaging	Het
Gpha2	T	C	19: 6,276,919 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,421,420 (GRCm39)	V648A	possibly damaging	Het
Jup	A	G	11: 100,269,207 (GRCm39)	V402A	probably benign	Het
Kif18a	A	G	2: 109,137,319 (GRCm39)	N517S	probably benign	Het
Kif20b	T	A	19: 34,927,480 (GRCm39)	I874N	probably damaging	Het
Lepr	T	A	4: 101,672,462 (GRCm39)	V1162E	probably damaging	Het
Man2a2	A	T	7: 80,012,063 (GRCm39)	V698D	possibly damaging	Het
Miip	A	C	4: 147,945,509 (GRCm39)	S376A	possibly damaging	Het
Nsun7	G	A	5: 66,435,983 (GRCm39)	R285Q	probably damaging	Het
Nup210l	T	C	3: 90,031,517 (GRCm39)	V281A	probably benign	Het
Paxip1	C	T	5: 27,953,837 (GRCm39)	R953Q	probably damaging	Het
Pcdha8	C	A	18: 37,126,099 (GRCm39)	L194I	probably damaging	Het
Pcdha8	A	G	18: 37,126,624 (GRCm39)	I369V	probably benign	Het
Pcdhga10	C	A	18: 37,880,494 (GRCm39)	A85E	possibly damaging	Het
Ppfibp1	A	G	6: 146,899,719 (GRCm39)	R137G	possibly damaging	Het
Rcor1	C	T	12: 111,070,187 (GRCm39)	A230V	probably damaging	Het
Scn3a	T	C	2: 65,312,623 (GRCm39)	M1191V	probably benign	Het
Skor2	A	G	18: 76,950,384 (GRCm39)	D904G	probably damaging	Het
Suco	A	T	1: 161,662,313 (GRCm39)	V706E	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Vmn1r83	A	T	7: 12,055,329 (GRCm39)	C243S	probably damaging	Het
Wdr17	A	T	8: 55,092,536 (GRCm39)	C1083S	possibly damaging	Het
Zfp952	G	T	17: 33,220,949 (GRCm39)	E18*	probably null	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het
Zscan25	G	T	5: 145,227,862 (GRCm39)	G509C	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
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'- AATTTAGGGGCCCGTAGTTCTG -3'
(R):5'- GAGGAAGCTAAAGTTTGAAACCCC -3'

Sequencing Primer
(F):5'- GGTTGTTGTGCCTAAATGAGTATGAC -3'
(R):5'- GCTAAAGTTTGAAACCCCCTCCAAAC -3'

Posted On

2015-04-30