Mutagenetix > Incidental Mutation

Incidental Mutation 'R3692:Bltp2'

268827

Institutional Source

Beutler Lab

Gene Symbol

Bltp2

Ensembl Gene

ENSMUSG00000010277

Gene Name

bridge-like lipid transfer protein family member 2

Synonyms

2610507B11Rik

MMRRC Submission

040687-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3692 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78152578-78181449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78160335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 598 (D598G)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

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

AlphaFold

Q5SYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000010421
AA Change: D598G

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

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: D598G

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

0.8912

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	C	5: 121,657,385 (GRCm39)	D636G	probably damaging	Het
Adgrv1	A	G	13: 81,672,719 (GRCm39)	V2218A	possibly damaging	Het
Ano5	T	A	7: 51,240,327 (GRCm39)	Y752N	probably damaging	Het
Calca	T	C	7: 114,233,796 (GRCm39)	E45G	probably damaging	Het
Cdk8	C	T	5: 146,220,478 (GRCm39)	R166*	probably null	Het
Chsy1	T	A	7: 65,821,001 (GRCm39)	M412K	probably damaging	Het
Cic	T	A	7: 24,988,338 (GRCm39)	Y1675*	probably null	Het
Col1a2	T	A	6: 4,510,710 (GRCm39)	D53E	possibly damaging	Het
Dennd6b	A	G	15: 89,071,030 (GRCm39)		probably benign	Het
Fut10	T	A	8: 31,726,048 (GRCm39)	Y268N	possibly damaging	Het
Glrx3	T	C	7: 137,060,846 (GRCm39)		probably benign	Het
Gucy1b2	T	A	14: 62,642,076 (GRCm39)	N697I	probably damaging	Het
Ifi208	T	C	1: 173,510,438 (GRCm39)	S198P	possibly damaging	Het
Krt34	A	G	11: 99,929,857 (GRCm39)	V213A	probably damaging	Het
Lats2	T	C	14: 57,928,998 (GRCm39)	N959S	probably damaging	Het
Mat1a	A	G	14: 40,843,338 (GRCm39)	Y288C	probably damaging	Het
Mtif2	A	T	11: 29,490,718 (GRCm39)	H474L	probably benign	Het
Myh8	A	G	11: 67,192,744 (GRCm39)	I1512V	probably damaging	Het
Nkx2-6	T	C	14: 69,409,476 (GRCm39)	S76P	probably benign	Het
Noxred1	G	A	12: 87,280,240 (GRCm39)	R31W	probably benign	Het
Or14c46	T	A	7: 85,918,703 (GRCm39)	Q98L	probably damaging	Het
Or4a69	T	A	2: 89,313,240 (GRCm39)	M80L	probably benign	Het
Pcdhb16	C	A	18: 37,611,340 (GRCm39)	T100K	probably benign	Het
Pcdhga10	T	C	18: 37,881,384 (GRCm39)	C382R	probably damaging	Het
Pdgfra	A	T	5: 75,349,948 (GRCm39)	Y944F	possibly damaging	Het
Pkhd1	A	G	1: 20,625,353 (GRCm39)	I741T	possibly damaging	Het
Ppp1r10	A	G	17: 36,241,760 (GRCm39)	D845G	unknown	Het
Rfk	C	A	19: 17,376,834 (GRCm39)		probably null	Het
Rgs11	C	T	17: 26,423,302 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,865,705 (GRCm39)	V951A	probably benign	Het
St3gal5	T	C	6: 72,126,013 (GRCm39)	V286A	probably benign	Het
St7l	T	C	3: 104,798,870 (GRCm39)	M320T	probably benign	Het
Tnfrsf1b	G	T	4: 144,954,092 (GRCm39)	Q86K	probably benign	Het
Tox	T	C	4: 6,697,535 (GRCm39)	I423V	probably benign	Het
Tpbpa	T	A	13: 61,087,827 (GRCm39)	H88L	probably benign	Het
Vmn1r236	A	G	17: 21,507,068 (GRCm39)	Y62C	probably benign	Het
Ythdc1	A	G	5: 86,970,526 (GRCm39)	I399M	probably damaging	Het
Zfp948	T	G	17: 21,807,838 (GRCm39)	D343E	probably benign	Het
Zswim6	A	G	13: 107,863,076 (GRCm39)		noncoding transcript	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
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
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'- ACTTTGCCAGGTCTAGTTAGG -3'
(R):5'- AGTGATCCAATCTGGCCCATAG -3'

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

Posted On

2015-02-19