Mutagenetix > Incidental Mutation

Incidental Mutation 'R8051:Bltp2'

633402

Institutional Source

Beutler Lab

Gene Symbol

Bltp2

Ensembl Gene

ENSMUSG00000010277

Gene Name

bridge-like lipid transfer protein family member 2

Synonyms

2610507B11Rik

MMRRC Submission

067488-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R8051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78152578-78181449 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 78164238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

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

AlphaFold

Q5SYL3

Predicted Effect

probably benign
Transcript: ENSMUST00000010421

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277

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

SMART Domains

Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277
AA Change: V53I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,750,527 (GRCm39)	L1766Q	probably damaging	Het
Adgrl3	A	G	5: 81,613,113 (GRCm39)	Y114C	probably damaging	Het
Ano9	T	A	7: 140,684,445 (GRCm39)	I472F	probably damaging	Het
Arhgap10	A	G	8: 78,244,309 (GRCm39)	F35S	probably damaging	Het
Btnl2	T	A	17: 34,582,473 (GRCm39)	D346E	probably damaging	Het
C4bp	A	T	1: 130,583,705 (GRCm39)	C88S	probably damaging	Het
Cavin2	A	T	1: 51,340,283 (GRCm39)	Q320L	probably benign	Het
Chtf18	C	A	17: 25,942,453 (GRCm39)	V462L	probably benign	Het
Crisp3	A	T	17: 40,543,451 (GRCm39)	S134R	probably benign	Het
Dlg4	C	A	11: 69,922,468 (GRCm39)		probably benign	Het
Dsc3	A	T	18: 20,114,270 (GRCm39)	M328K	probably damaging	Het
Efemp2	T	A	19: 5,526,095 (GRCm39)	D73E	probably damaging	Het
Fbn1	C	T	2: 125,148,383 (GRCm39)	A2622T	possibly damaging	Het
Flt1	T	C	5: 147,519,501 (GRCm39)	H938R	probably benign	Het
Flt3	T	G	5: 147,295,765 (GRCm39)		probably benign	Het
Fnbp4	T	C	2: 90,608,083 (GRCm39)	V935A	possibly damaging	Het
Frem2	T	C	3: 53,442,776 (GRCm39)	N2587S	probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gm36864	A	T	7: 43,891,976 (GRCm39)	I385F	probably benign	Het
Il17re	G	T	6: 113,436,328 (GRCm39)	R47L	probably benign	Het
Il27ra	A	G	8: 84,760,578 (GRCm39)		probably null	Het
Irf4	A	G	13: 30,945,456 (GRCm39)	I401V	probably damaging	Het
Kat6a	T	C	8: 23,400,265 (GRCm39)	L342S	probably damaging	Het
Klc1	T	A	12: 111,748,384 (GRCm39)	C390S	possibly damaging	Het
Klhl22	A	T	16: 17,610,443 (GRCm39)	I565F	probably damaging	Het
Krt26	A	T	11: 99,228,672 (GRCm39)	L20Q	probably damaging	Het
Lamb3	T	C	1: 193,012,375 (GRCm39)	V384A	possibly damaging	Het
Lmo2	T	A	2: 103,801,045 (GRCm39)	L80Q	possibly damaging	Het
Lrrc37a	T	G	11: 103,393,952 (GRCm39)	E491A	possibly damaging	Het
Ninj1	T	A	13: 49,347,288 (GRCm39)	M51K	probably damaging	Het
Or11g26	C	A	14: 50,753,100 (GRCm39)	N146K	probably benign	Het
Or12d17	G	A	17: 37,777,213 (GRCm39)	G39R	probably damaging	Het
Plppr3	T	A	10: 79,702,838 (GRCm39)	T142S	probably damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Rap1gap2	G	T	11: 74,286,651 (GRCm39)	R550S	probably damaging	Het
Rbm33	A	G	5: 28,557,623 (GRCm39)	N279D	probably damaging	Het
Rhox9	C	T	X: 36,990,253 (GRCm39)	G40R	probably benign	Het
Selplg	G	A	5: 113,957,502 (GRCm39)	T268I	probably damaging	Het
Slc20a1	T	C	2: 129,050,120 (GRCm39)	M426T	possibly damaging	Het
Spata18	A	T	5: 73,827,063 (GRCm39)	Y220F		Het
Spns1	T	C	7: 125,971,708 (GRCm39)	T281A	probably benign	Het
Sptan1	C	T	2: 29,920,171 (GRCm39)	R2288C	probably damaging	Het
Tacstd2	T	C	6: 67,512,383 (GRCm39)	D103G	probably damaging	Het
Tmem121	C	T	12: 113,152,487 (GRCm39)	A235V	probably benign	Het
Try4	A	G	6: 41,281,996 (GRCm39)	D194G	probably damaging	Het
Tyrp1	C	A	4: 80,755,897 (GRCm39)	T222K	probably damaging	Het
Zfp57	T	A	17: 37,320,785 (GRCm39)	V213D	probably damaging	Het
Zfy2	A	T	Y: 2,117,380 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,823 (GRCm39)	G454R	not run	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
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
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'- TCCATGGGGACTGGCATATG -3'
(R):5'- CAGAGACTTGGTCACTTGTTCCC -3'

Sequencing Primer
(F):5'- CTGGCATATGGATATTGAACAAGC -3'
(R):5'- TCCCCCATCCAGTTAAGGC -3'

Posted On

2020-07-01