Mutagenetix > Incidental Mutation

Incidental Mutation 'R3943:Bltp2'

307553

Institutional Source

Beutler Lab

Gene Symbol

Bltp2

Ensembl Gene

ENSMUSG00000010277

Gene Name

bridge-like lipid transfer protein family member 2

Synonyms

2610507B11Rik

MMRRC Submission

040924-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R3943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78152578-78181449 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 78160350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 603 (L603*)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

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

AlphaFold

Q5SYL3

Predicted Effect

probably null
Transcript: ENSMUST00000010421
AA Change: L603*

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: L603*

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: ENSMUST00000132756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136184

Predicted Effect

probably benign
Transcript: ENSMUST00000145145

SMART Domains

Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277

Domain	Start	End	E-Value	Type
Pfam:Fmp27_GFWDK	1	52	1.2e-20	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	A	G	2: 168,026,980 (GRCm39)	I105T	possibly damaging	Het
Atf3	A	G	1: 190,903,713 (GRCm39)	I171T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,946,343 (GRCm39)	I773V	probably benign	Het
Cad	T	A	5: 31,229,729 (GRCm39)		probably null	Het
Camkv	T	A	9: 107,825,182 (GRCm39)	D366E	possibly damaging	Het
Dnah8	T	A	17: 30,913,039 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,880,668 (GRCm39)	S932P	probably damaging	Het
Fam227a	C	T	15: 79,505,060 (GRCm39)		probably benign	Het
Fbp2	A	G	13: 62,989,607 (GRCm39)	F233S	possibly damaging	Het
Gnptab	G	T	10: 88,269,756 (GRCm39)	V820L	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpr158	C	A	2: 21,373,370 (GRCm39)	R102S	possibly damaging	Het
Gramd1b	A	T	9: 40,442,340 (GRCm39)	M1K	probably null	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hltf	A	T	3: 20,146,908 (GRCm39)	I494F	probably damaging	Het
Il16	G	A	7: 83,301,223 (GRCm39)	L300F	probably damaging	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Kcnq1	T	C	7: 142,979,825 (GRCm39)	L657P	probably damaging	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Mia3	A	G	1: 183,140,127 (GRCm39)	F196S	possibly damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Nrxn2	T	A	19: 6,523,365 (GRCm39)	N204K	probably damaging	Het
Or7g27	T	A	9: 19,250,371 (GRCm39)	M205K	probably benign	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Rhpn1	T	C	15: 75,583,655 (GRCm39)	L380P	probably damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Sspn	T	A	6: 145,880,083 (GRCm39)	W62R	probably damaging	Het
Stard9	A	G	2: 120,528,710 (GRCm39)	S1656G	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Trf	T	A	9: 103,100,151 (GRCm39)	I271F	probably benign	Het
Trpm7	A	T	2: 126,673,138 (GRCm39)	N538K	possibly damaging	Het
Usp28	T	A	9: 48,911,666 (GRCm39)	L25I	probably benign	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r42	A	T	7: 8,197,779 (GRCm39)	F280Y	possibly damaging	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Vwa2	T	G	19: 56,897,747 (GRCm39)	L684R	probably damaging	Het
Zfp712	T	C	13: 67,189,396 (GRCm39)	Q377R	probably benign	Het
Zfp947	C	A	17: 22,364,801 (GRCm39)	G291V	probably damaging	Het
Zpld2	T	C	4: 133,927,656 (GRCm39)	T366A	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
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'- GACTTTGCCAGGTCTAGTTAGG -3'
(R):5'- GATCCAATCTGGCCCATAGC -3'

Sequencing Primer
(F):5'- TGCCAGGTCTAGTTAGGTAAGAG -3'
(R):5'- CTAAAGCATTACCTCTAGAGAGCGG -3'

Posted On

2015-04-17