Mutagenetix > Incidental Mutation

Incidental Mutation 'R6971:Gltpd2'

542262

Institutional Source

Beutler Lab

Gene Symbol

Gltpd2

Ensembl Gene

ENSMUSG00000046811

Gene Name

glycolipid transfer protein domain containing 2

Synonyms

C730027E14Rik

MMRRC Submission

045081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6971 (G1)

Quality Score

165.009

Status

Validated

Chromosome

Chromosomal Location

70410035-70411562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70411290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 194 (T194A)

Ref Sequence

ENSEMBL: ENSMUSP00000136029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018430] [ENSMUST00000057685] [ENSMUST00000179000]

AlphaFold

Q8K0R6

Predicted Effect

probably benign
Transcript: ENSMUST00000018430

SMART Domains

Protein: ENSMUSP00000018430
Gene: ENSMUSG00000018286

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Proteasome	30	212	1.3e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057685
AA Change: T308A

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

SMART Domains

Protein: ENSMUSP00000049732
Gene: ENSMUSG00000046811
AA Change: T308A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	58	72	N/A	INTRINSIC
Pfam:GLTP	129	283	6.6e-35	PFAM
low complexity region	286	302	N/A	INTRINSIC
low complexity region	309	321	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179000
AA Change: T194A

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

SMART Domains

Protein: ENSMUSP00000136029
Gene: ENSMUSG00000046811
AA Change: T194A

Domain	Start	End	E-Value	Type
Pfam:GLTP	13	171	2.3e-40	PFAM
low complexity region	172	188	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,903 (GRCm39)	T32S	possibly damaging	Het
2210408I21Rik	A	G	13: 77,341,306 (GRCm39)	S52G	possibly damaging	Het
Aadacl4	G	A	4: 144,349,303 (GRCm39)	V187M	probably damaging	Het
Adprhl1	T	A	8: 13,273,476 (GRCm39)	Q1094L	probably benign	Het
Amigo1	C	T	3: 108,095,452 (GRCm39)	S317L	probably benign	Het
Brca1	A	G	11: 101,424,831 (GRCm39)	F32L	probably benign	Het
C1qtnf7	T	A	5: 43,766,392 (GRCm39)		probably null	Het
Ccdc88c	A	T	12: 100,920,486 (GRCm39)	D378E	probably damaging	Het
Ccdc97	G	T	7: 25,414,384 (GRCm39)	Y123*	probably null	Het
Cdk10	T	A	8: 123,954,413 (GRCm39)	M46K	probably damaging	Het
Dsc3	A	G	18: 20,099,275 (GRCm39)		probably null	Het
Ephx3	T	A	17: 32,407,177 (GRCm39)	N254Y	possibly damaging	Het
Fnip2	G	A	3: 79,388,428 (GRCm39)	R768*	probably null	Het
Glra1	A	T	11: 55,427,325 (GRCm39)	Y3*	probably null	Het
Hectd1	A	T	12: 51,795,526 (GRCm39)	L2301*	probably null	Het
Hmcn1	T	A	1: 150,868,802 (GRCm39)	M1L	probably benign	Het
Hmcn2	G	A	2: 31,322,333 (GRCm39)	E4133K	probably benign	Het
Hps3	A	T	3: 20,065,699 (GRCm39)	L714I	probably damaging	Het
Igfbpl1	A	G	4: 45,816,333 (GRCm39)	V164A	possibly damaging	Het
Ip6k2	T	C	9: 108,674,510 (GRCm39)		probably benign	Het
Itgb8	A	T	12: 119,154,366 (GRCm39)	Y224N	probably damaging	Het
Kcnt2	T	C	1: 140,440,646 (GRCm39)	L624S	probably benign	Het
Mdga2	A	G	12: 66,597,335 (GRCm39)	Y720H	probably damaging	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Msl2	T	C	9: 100,978,042 (GRCm39)	F139L	probably benign	Het
Nuggc	T	C	14: 65,846,305 (GRCm39)	V72A	probably benign	Het
Or9k2b	A	T	10: 130,016,638 (GRCm39)	V37E	possibly damaging	Het
Pde2a	T	A	7: 101,159,520 (GRCm39)	Y783*	probably null	Het
Pfkfb2	A	G	1: 130,628,533 (GRCm39)	Y358H	probably damaging	Het
Pou2f1	A	G	1: 165,759,258 (GRCm39)	S23P	probably damaging	Het
Prrc2a	T	C	17: 35,378,477 (GRCm39)		probably null	Het
Prss36	T	C	7: 127,544,410 (GRCm39)	T92A	probably benign	Het
Rnft2	A	G	5: 118,332,635 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,895,868 (GRCm39)	V971A	possibly damaging	Het
Sec63	A	G	10: 42,659,438 (GRCm39)	E42G	probably damaging	Het
Setdb2	A	T	14: 59,653,189 (GRCm39)	L371Q	probably damaging	Het
Shprh	A	T	10: 11,042,437 (GRCm39)	I807F	probably damaging	Het
Slc3a2	T	C	19: 8,686,974 (GRCm39)		probably null	Het
Srbd1	T	C	17: 86,406,718 (GRCm39)	I556V	possibly damaging	Het
Stim2	T	A	5: 54,275,641 (GRCm39)	C605*	probably null	Het
Tecrl	T	C	5: 83,502,649 (GRCm39)	T67A	possibly damaging	Het
Ttc33	C	A	15: 5,241,523 (GRCm39)	A116E	probably damaging	Het
Ttn	G	A	2: 76,772,393 (GRCm39)	T2503I	possibly damaging	Het
Ubp1	T	C	9: 113,801,831 (GRCm39)	I468T	probably damaging	Het
Urgcp	A	T	11: 5,668,115 (GRCm39)	H74Q	probably benign	Het
Vcan	A	G	13: 89,826,252 (GRCm39)	I2224T	probably damaging	Het
Vmn1r8	T	A	6: 57,013,400 (GRCm39)	N150K	probably damaging	Het
Vmn2r3	A	G	3: 64,166,668 (GRCm39)	M821T	probably damaging	Het
Zfp777	C	A	6: 48,001,625 (GRCm39)	A866S	probably damaging	Het

Other mutations in Gltpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02385:Gltpd2	APN	11	70,410,822 (GRCm39)	missense	probably damaging	1.00
IGL02938:Gltpd2	APN	11	70,410,637 (GRCm39)	missense	probably damaging	1.00
R0894:Gltpd2	UTSW	11	70,410,535 (GRCm39)	utr 5 prime	probably benign
R4705:Gltpd2	UTSW	11	70,410,966 (GRCm39)	nonsense	probably null
R4817:Gltpd2	UTSW	11	70,410,303 (GRCm39)	missense	probably damaging	1.00
R5928:Gltpd2	UTSW	11	70,410,179 (GRCm39)	missense	probably benign	0.01
R6983:Gltpd2	UTSW	11	70,411,110 (GRCm39)	missense	probably damaging	1.00
R7576:Gltpd2	UTSW	11	70,410,306 (GRCm39)	critical splice donor site	probably null
R9022:Gltpd2	UTSW	11	70,410,153 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTTTGTTGCATCGCGCG -3'
(R):5'- GGCCTTAACTGTGGTGACTTC -3'

Sequencing Primer
(F):5'- ACAGGGACGCTTGGAGGTC -3'
(R):5'- TGACTTCACTAAAGAGGACCGCTAG -3'

Posted On

2018-11-28