Mutagenetix > Incidental Mutation

Incidental Mutation 'R4387:Adprm'

326279

Institutional Source

Beutler Lab

Gene Symbol

Adprm

Ensembl Gene

ENSMUSG00000020910

Gene Name

ADP-ribose/CDP-alcohol diphosphatase, manganese dependent

Synonyms

2310004I24Rik

MMRRC Submission

041681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4387 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66928731-66943420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66929019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 324 (R324K)

Ref Sequence

ENSEMBL: ENSMUSP00000112064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061786] [ENSMUST00000079077] [ENSMUST00000116363] [ENSMUST00000146338]

AlphaFold

Q99KS6

Predicted Effect

probably benign
Transcript: ENSMUST00000061786

SMART Domains

Protein: ENSMUSP00000057366
Gene: ENSMUSG00000050270

Domain	Start	End	E-Value	Type
Pfam:TMEM220	23	122	4e-30	PFAM
transmembrane domain	127	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079077

SMART Domains

Protein: ENSMUSP00000078084
Gene: ENSMUSG00000050270

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:TMEM220	23	48	1.2e-9	PFAM
Pfam:TMEM220	64	144	4.3e-19	PFAM
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116363
AA Change: R324K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112064
Gene: ENSMUSG00000020910
AA Change: R324K

Domain	Start	End	E-Value	Type
Pfam:Metallophos	18	282	1.8e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136013

Predicted Effect

probably benign
Transcript: ENSMUST00000146338

SMART Domains

Protein: ENSMUSP00000137768
Gene: ENSMUSG00000020910

Domain	Start	End	E-Value	Type
PDB:2NXF\|A	13	199	4e-47	PDB
SCOP:d1utea_	15	176	3e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148379

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Brd10	A	G	19: 29,782,715 (GRCm39)		probably benign	Het
Calcr	T	A	6: 3,707,581 (GRCm39)	N240Y	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cp	T	C	3: 20,031,366 (GRCm39)	V601A	probably damaging	Het
Cyp2a5	A	G	7: 26,540,479 (GRCm39)	D364G	probably damaging	Het
Eno4	T	A	19: 58,941,640 (GRCm39)	V187D	probably benign	Het
Fbxl7	C	A	15: 26,543,345 (GRCm39)	S434I	probably damaging	Het
Fbxw24	A	T	9: 109,439,053 (GRCm39)	L174Q	probably damaging	Het
Fryl	T	A	5: 73,243,903 (GRCm39)	R91S	possibly damaging	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Gtpbp2	A	G	17: 46,477,284 (GRCm39)	D383G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Lipi	T	A	16: 75,370,843 (GRCm39)	I125F	probably damaging	Het
Meig1	T	C	2: 3,410,278 (GRCm39)	E74G	probably damaging	Het
Mgat4d	A	T	8: 84,098,335 (GRCm39)	Q366L	probably damaging	Het
Mrpl1	A	G	5: 96,386,778 (GRCm39)	N256D	possibly damaging	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Nphp3	A	G	9: 103,907,219 (GRCm39)	T740A	possibly damaging	Het
Or5an1c	A	G	19: 12,218,503 (GRCm39)	V174A	probably damaging	Het
Or8k33	T	C	2: 86,384,298 (GRCm39)	T57A	probably damaging	Het
Or8k40	T	A	2: 86,584,464 (GRCm39)	D206V	probably benign	Het
Pde5a	T	C	3: 122,523,001 (GRCm39)	I36T	probably benign	Het
Pign	A	T	1: 105,449,785 (GRCm39)	L914M	possibly damaging	Het
Ppm1b	A	G	17: 85,322,847 (GRCm39)	D382G	probably benign	Het
Psd3	T	C	8: 68,453,413 (GRCm39)	Y282C	probably damaging	Het
Ptprt	A	T	2: 161,769,570 (GRCm39)	Y432N	probably damaging	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Shoc1	A	T	4: 59,060,915 (GRCm39)	C953S	possibly damaging	Het
Slit3	T	C	11: 35,574,875 (GRCm39)	V1063A	probably benign	Het
Spdye4a	A	G	5: 143,211,378 (GRCm39)	V62A	probably benign	Het
Ttc6	G	A	12: 57,689,836 (GRCm39)	G509S	probably benign	Het
Ush2a	C	T	1: 188,175,628 (GRCm39)	T1242M	probably benign	Het
Wwc2	T	C	8: 48,284,681 (GRCm39)	S1155G	unknown	Het
Zfp551	A	T	7: 12,152,568 (GRCm39)	I55N	probably damaging	Het

Other mutations in Adprm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02668:Adprm	APN	11	66,931,073 (GRCm39)	missense	possibly damaging	0.86
R0179:Adprm	UTSW	11	66,929,051 (GRCm39)	missense	possibly damaging	0.79
R1493:Adprm	UTSW	11	66,932,702 (GRCm39)	missense	possibly damaging	0.95
R1636:Adprm	UTSW	11	66,932,549 (GRCm39)	missense	possibly damaging	0.91
R1999:Adprm	UTSW	11	66,929,055 (GRCm39)	missense	probably benign	0.03
R2085:Adprm	UTSW	11	66,932,678 (GRCm39)	missense	probably damaging	1.00
R2150:Adprm	UTSW	11	66,929,055 (GRCm39)	missense	probably benign	0.03
R4389:Adprm	UTSW	11	66,929,019 (GRCm39)	missense	probably benign	0.00
R4995:Adprm	UTSW	11	66,932,436 (GRCm39)	missense	possibly damaging	0.95
R5015:Adprm	UTSW	11	66,932,856 (GRCm39)	missense	possibly damaging	0.95
R7250:Adprm	UTSW	11	66,932,450 (GRCm39)	missense	probably benign	0.00
R8901:Adprm	UTSW	11	66,932,564 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCACTCACACATACTCAAGGTG -3'
(R):5'- GTGGATGCTCTGTCAATCATATGG -3'

Sequencing Primer
(F):5'- CATACTCAAGGTGCAAATACATTTTG -3'
(R):5'- CTGTCAATCATATGGTCTCACAAGTG -3'

Posted On

2015-07-06