Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Bltp2'

697260

Institutional Source

Beutler Lab

Gene Symbol

Bltp2

Ensembl Gene

ENSMUSG00000010277

Gene Name

bridge-like lipid transfer protein family member 2

Synonyms

2610507B11Rik

MMRRC Submission

068979-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R9184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78152578-78181449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78162214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 692 (L692S)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

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

AlphaFold

Q5SYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000010421
AA Change: L692S

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

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: L692S

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: ENSMUST00000145145

SMART Domains

Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277

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: 99.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,233,901 (GRCm39)	V199A	unknown	Het
Abca7	A	G	10: 79,838,690 (GRCm39)	H621R	probably damaging	Het
Adam18	T	A	8: 25,137,847 (GRCm39)	N331I	probably benign	Het
Akt1	A	G	12: 112,621,152 (GRCm39)	S475P	possibly damaging	Het
Arc	A	G	15: 74,543,779 (GRCm39)	V148A	probably damaging	Het
Atg2a	T	C	19: 6,291,887 (GRCm39)	L21P	probably damaging	Het
C1qtnf2	T	C	11: 43,365,180 (GRCm39)	V25A	probably benign	Het
Cald1	G	T	6: 34,730,512 (GRCm39)	E244D	unknown	Het
Cdc42bpa	T	A	1: 179,972,301 (GRCm39)	F1368I	probably benign	Het
Cfap61	G	A	2: 145,919,308 (GRCm39)	C680Y	probably null	Het
Chd1	T	A	17: 15,962,551 (GRCm39)	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,470,908 (GRCm39)	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ctsb	G	T	14: 63,375,544 (GRCm39)	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,552 (GRCm39)	K2320E	probably benign	Het
Fat4	A	T	3: 39,036,592 (GRCm39)	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,706,488 (GRCm39)	S448P	probably damaging	Het
Filip1	T	C	9: 79,805,542 (GRCm39)	K71E	probably benign	Het
Gad2	G	A	2: 22,558,331 (GRCm39)	V350I	probably benign	Het
Gigyf2	T	A	1: 87,368,311 (GRCm39)	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,509,007 (GRCm39)	T326A	probably damaging	Het
Hspa9	C	T	18: 35,082,168 (GRCm39)	R146H	possibly damaging	Het
Jakmip2	A	G	18: 43,715,352 (GRCm39)	I58T	probably benign	Het
Kcnk15	G	A	2: 163,700,606 (GRCm39)	V282M	probably benign	Het
Klk1b8	A	G	7: 43,602,158 (GRCm39)	N30S	probably benign	Het
Lpin2	T	A	17: 71,540,911 (GRCm39)	Y454*	probably null	Het
Mcam	T	C	9: 44,046,545 (GRCm39)		probably benign	Het
Mms22l	T	C	4: 24,596,182 (GRCm39)	L1047S	probably damaging	Het
Neb	A	G	2: 52,218,767 (GRCm39)	I81T	possibly damaging	Het
Neurod4	A	T	10: 130,106,958 (GRCm39)	D105E	probably damaging	Het
Nlrp1b	A	G	11: 71,072,067 (GRCm39)	L592P	probably damaging	Het
Nnt	C	A	13: 119,518,270 (GRCm39)	K302N	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or4c103	C	A	2: 88,513,519 (GRCm39)	A186S	possibly damaging	Het
Or4c58	T	A	2: 89,675,294 (GRCm39)	I8F	probably benign	Het
Or7g16	T	C	9: 18,727,138 (GRCm39)	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,820,460 (GRCm39)	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143 (GRCm39)	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,724,249 (GRCm39)	N1275K	probably benign	Het
Pink1	G	T	4: 138,048,321 (GRCm39)	Q134K	probably benign	Het
Poli	T	A	18: 70,642,250 (GRCm39)	H650L	probably damaging	Het
Prickle2	G	A	6: 92,388,505 (GRCm39)	P355L	possibly damaging	Het
Prkaca	G	A	8: 84,717,305 (GRCm39)	G194D	probably benign	Het
Ptgs2	A	T	1: 149,980,175 (GRCm39)	Y371F	probably damaging	Het
Rarb	T	A	14: 16,818,882 (GRCm38)		probably benign	Het
Rarb	C	T	14: 16,818,881 (GRCm38)		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Serpinb1b	T	G	13: 33,269,393 (GRCm39)	V42G	probably damaging	Het
Sgsm2	T	A	11: 74,782,834 (GRCm39)	I41F	possibly damaging	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630 (GRCm39)	V602M	possibly damaging	Het
Slu7	T	C	11: 43,334,224 (GRCm39)	S417P	probably damaging	Het
Smad2	T	A	18: 76,422,171 (GRCm39)	D194E	probably benign	Het
Sntg1	A	T	1: 8,748,056 (GRCm39)	V112E	probably damaging	Het
Strip1	A	T	3: 107,521,979 (GRCm39)	M733K	probably benign	Het
Szt2	G	A	4: 118,241,726 (GRCm39)	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,599,949 (GRCm39)	I19075N	probably benign	Het
Urb2	C	T	8: 124,771,890 (GRCm39)	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,790,822 (GRCm39)	I159F	probably benign	Het
Zfp78	T	C	7: 6,382,300 (GRCm39)	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,743,475 (GRCm39)	H314L	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
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
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'- AGGCATGTGTGATAGTCCTG -3'
(R):5'- TAAGCCTGCAGTGAACCTC -3'

Sequencing Primer
(F):5'- GCATGTGTGATAGTCCTGTTCCTTC -3'
(R):5'- CCAGGGTAATGAACTTGTCCTCAG -3'

Posted On

2022-02-07