Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Herpud2'

405155

Institutional Source

Beutler Lab

Gene Symbol

Herpud2

Ensembl Gene

ENSMUSG00000008429

Gene Name

HERPUD family member 2

Synonyms

5031400M07Rik

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25019428-25063116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25036256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 135 (G135S)

Ref Sequence

ENSEMBL: ENSMUSP00000008573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008573]

AlphaFold

Q9JJC9

Predicted Effect

probably benign
Transcript: ENSMUST00000008573
AA Change: G135S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000008573
Gene: ENSMUSG00000008429
AA Change: G135S

Domain	Start	End	E-Value	Type
UBQ	10	87	7.34e-3	SMART
low complexity region	88	98	N/A	INTRINSIC
low complexity region	109	126	N/A	INTRINSIC
low complexity region	194	226	N/A	INTRINSIC
transmembrane domain	291	313	N/A	INTRINSIC
low complexity region	346	374	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gata4	A	C	14: 63,478,048 (GRCm39)	F184V	probably damaging	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,922,874 (GRCm39)	V1107I	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or4c12	A	T	2: 89,773,780 (GRCm39)	Y226*	probably null	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Phip	A	G	9: 82,827,936 (GRCm39)	Y97H	probably damaging	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Qsox2	A	T	2: 26,107,710 (GRCm39)	L261H	probably damaging	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spen	C	A	4: 141,215,390 (GRCm39)	A481S	unknown	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	Het

Other mutations in Herpud2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Herpud2	APN	9	25,062,247 (GRCm39)	missense	probably benign	0.00
IGL01325:Herpud2	APN	9	25,025,207 (GRCm39)	missense	probably benign
R1793:Herpud2	UTSW	9	25,021,953 (GRCm39)	missense	possibly damaging	0.95
R3822:Herpud2	UTSW	9	25,036,220 (GRCm39)	nonsense	probably null
R3976:Herpud2	UTSW	9	25,021,734 (GRCm39)	missense	probably damaging	1.00
R4886:Herpud2	UTSW	9	25,036,285 (GRCm39)	missense	probably benign	0.05
R5922:Herpud2	UTSW	9	25,020,280 (GRCm39)	missense	probably benign	0.00
R6062:Herpud2	UTSW	9	25,020,284 (GRCm39)	missense	probably damaging	0.96
R6200:Herpud2	UTSW	9	25,062,130 (GRCm39)	missense	probably damaging	1.00
R7529:Herpud2	UTSW	9	25,020,193 (GRCm39)	missense	probably damaging	0.99
R7649:Herpud2	UTSW	9	25,021,902 (GRCm39)	missense	possibly damaging	0.90
R9330:Herpud2	UTSW	9	25,036,246 (GRCm39)	missense	probably damaging	1.00
R9539:Herpud2	UTSW	9	25,041,936 (GRCm39)	missense	probably damaging	0.96
X0063:Herpud2	UTSW	9	25,062,165 (GRCm39)	missense	probably damaging	0.98
Z1176:Herpud2	UTSW	9	25,041,918 (GRCm39)	missense	not run
Z1177:Herpud2	UTSW	9	25,041,918 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGCTTTTCACGTTTAGTAGTTGCC -3'
(R):5'- ACAGTCTTGGCTTTCTGACC -3'

Sequencing Primer
(F):5'- AATTTTCACTTACCCTTGGA -3'
(R):5'- AGTCTTGGCTTTCTGACCTTTTTAG -3'

Posted On

2016-07-22