Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Ampd2'

235333

Institutional Source

Beutler Lab

Gene Symbol

Ampd2

Ensembl Gene

ENSMUSG00000027889

Gene Name

adenosine monophosphate deaminase 2

Synonyms

1200014F01Rik, Ampd-2

MMRRC Submission

040167-MU

Accession Numbers

Genbank: NM_028779; MGI: 88016

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108074062-108086651 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 108085369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078912] [ENSMUST00000102637] [ENSMUST00000102638]

AlphaFold

Q9DBT5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070502

Predicted Effect

probably benign
Transcript: ENSMUST00000078912

SMART Domains

Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	357	764	3.3e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102637

SMART Domains

Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:A_deaminase	331	738	7.5e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102638

SMART Domains

Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:A_deaminase	331	738	7.5e-125	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136712

SMART Domains

Protein: ENSMUSP00000122431
Gene: ENSMUSG00000027889

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	97	165	4.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186471

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit proteinuria, tubules filled with protein casts and podocyte process effacement. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,210,193		probably null	Het
Adcy8	C	T	15: 64,920,934	G58S	probably benign	Het
Adgra2	T	A	8: 27,114,204	L24*	probably null	Het
Ankrd26	T	G	6: 118,525,791	E806A	probably damaging	Het
Apol9b	A	G	15: 77,735,439	D145G	probably benign	Het
Ash1l	T	A	3: 88,985,419	M1535K	probably benign	Het
Atf6	A	G	1: 170,794,735	M439T	probably damaging	Het
B3glct	A	T	5: 149,754,156	M417L	probably damaging	Het
Cep192	A	T	18: 67,820,360	T483S	probably damaging	Het
Cep290	G	A	10: 100,518,795	E914K	probably damaging	Het
Chst15	C	T	7: 132,270,385	A56T	probably damaging	Het
Col27a1	A	T	4: 63,225,424	T450S	probably benign	Het
Cpsf2	A	G	12: 101,985,335	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Ctc1	C	T	11: 69,035,615	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,997,357	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,636,274	S92P	probably damaging	Het
Eml5	A	G	12: 98,887,097	V81A	probably damaging	Het
Espl1	C	T	15: 102,319,588	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,316,526	V230A	probably benign	Het
Fam213b	T	G	4: 154,898,149	Y56S	probably damaging	Het
Fanci	T	A	7: 79,395,995	D28E	probably benign	Het
Fmn1	A	G	2: 113,365,617	N554S	unknown	Het
Frem2	T	C	3: 53,537,330	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,473,793	P300S	probably damaging	Het
Gm28042	A	G	2: 120,036,748	D438G	probably benign	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Nbas	A	G	12: 13,330,646	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,450,475		probably null	Het
Nrp2	A	T	1: 62,744,355	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,302,186	T402S	possibly damaging	Het
Phc1	T	C	6: 122,322,337	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,346,330	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,705,207	D1164E	probably damaging	Het
Proser2	T	A	2: 6,100,695	R353W	possibly damaging	Het
Ptges	T	A	2: 30,892,696	T115S	probably benign	Het
Ptprk	A	T	10: 28,560,142	D833V	probably damaging	Het
Pum1	T	A	4: 130,728,083	L173*	probably null	Het
Pum1	G	T	4: 130,728,084	L269F	probably damaging	Het
Rasgrp4	A	G	7: 29,139,045	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,999,474		probably benign	Het
Rdh1	A	G	10: 127,760,172	T79A	possibly damaging	Het
Relb	A	C	7: 19,613,761		probably null	Het
Rnf122	G	A	8: 31,112,164	W6*	probably null	Het
Rnf31	A	G	14: 55,592,537	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,197,210	R936Q	probably damaging	Het
Scube3	T	A	17: 28,166,134	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Spns2	C	T	11: 72,458,671	V252M	possibly damaging	Het
Tmem159	A	G	7: 120,120,239	E157G	possibly damaging	Het
Tomm40l	C	T	1: 171,220,134	S220N	probably damaging	Het
Trim17	A	G	11: 58,971,411	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,465		probably null	Het
Uba5	A	T	9: 104,060,243	M89K	probably damaging	Het
Vav2	T	C	2: 27,273,706	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,375,642	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,839,559	D354E	possibly damaging	Het
Xrn1	A	G	9: 96,006,820	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,464,246	V223A	probably benign	Het
Zcchc11	G	A	4: 108,503,029	R481Q	possibly damaging	Het
Zfp592	T	C	7: 81,041,438	S1122P	possibly damaging	Het

Other mutations in Ampd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ampd2	APN	3	108077396	missense	probably damaging	1.00
IGL02142:Ampd2	APN	3	108080344	splice site	probably benign
IGL02174:Ampd2	APN	3	108080285	missense	probably damaging	0.96
IGL02686:Ampd2	APN	3	108076495	missense	possibly damaging	0.62
IGL03326:Ampd2	APN	3	108079287	missense	probably benign	0.02
IGL03493:Ampd2	APN	3	108075358	missense	probably damaging	1.00
D4186:Ampd2	UTSW	3	108081111	missense	probably benign	0.00
H8562:Ampd2	UTSW	3	108081111	missense	probably benign	0.00
PIT4445001:Ampd2	UTSW	3	108075012	missense	probably damaging	1.00
R0271:Ampd2	UTSW	3	108086716	unclassified	probably benign
R0835:Ampd2	UTSW	3	108076502	missense	possibly damaging	0.48
R0975:Ampd2	UTSW	3	108077121	missense	probably damaging	1.00
R1061:Ampd2	UTSW	3	108075689	missense	probably damaging	1.00
R1466:Ampd2	UTSW	3	108080337	critical splice acceptor site	probably null
R1466:Ampd2	UTSW	3	108080337	critical splice acceptor site	probably null
R1584:Ampd2	UTSW	3	108080337	critical splice acceptor site	probably null
R2034:Ampd2	UTSW	3	108077363	missense	possibly damaging	0.91
R3040:Ampd2	UTSW	3	108076416	missense	probably damaging	1.00
R3052:Ampd2	UTSW	3	108086487	utr 5 prime	probably benign
R4329:Ampd2	UTSW	3	108077787	intron	probably benign
R4425:Ampd2	UTSW	3	108086736	unclassified	probably benign
R5073:Ampd2	UTSW	3	108079233	missense	probably damaging	0.99
R5074:Ampd2	UTSW	3	108079233	missense	probably damaging	0.99
R5180:Ampd2	UTSW	3	108079042	missense	probably benign	0.00
R5256:Ampd2	UTSW	3	108079549	intron	probably benign
R5507:Ampd2	UTSW	3	108077613	missense	probably damaging	1.00
R5513:Ampd2	UTSW	3	108075667	missense	possibly damaging	0.85
R5955:Ampd2	UTSW	3	108079772	missense	probably damaging	1.00
R6941:Ampd2	UTSW	3	108079293	missense	probably damaging	0.99
R7744:Ampd2	UTSW	3	108080116	missense	probably benign
R7745:Ampd2	UTSW	3	108080116	missense	probably benign
R7815:Ampd2	UTSW	3	108074931	missense	probably benign	0.06
R7938:Ampd2	UTSW	3	108080116	missense	probably benign
R7939:Ampd2	UTSW	3	108080116	missense	probably benign
R7941:Ampd2	UTSW	3	108080116	missense	probably benign
R7942:Ampd2	UTSW	3	108080116	missense	probably benign
R8309:Ampd2	UTSW	3	108080116	missense	probably benign
R8312:Ampd2	UTSW	3	108080116	missense	probably benign
R8503:Ampd2	UTSW	3	108080116	missense	probably benign
R8518:Ampd2	UTSW	3	108080116	missense	probably benign
R8724:Ampd2	UTSW	3	108080116	missense	probably benign
R8743:Ampd2	UTSW	3	108080116	missense	probably benign
R8745:Ampd2	UTSW	3	108080116	missense	probably benign
R8753:Ampd2	UTSW	3	108080116	missense	probably benign
R8769:Ampd2	UTSW	3	108075297	missense	probably damaging	0.98
R9339:Ampd2	UTSW	3	108080300	missense	probably damaging	0.96
R9410:Ampd2	UTSW	3	108075274	missense	probably damaging	1.00
Z1176:Ampd2	UTSW	3	108080064	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTGCAGAGAGGGTGCTG -3'
(R):5'- GGCACTCTAAAGACTGGAGTGG -3'

Sequencing Primer
(F):5'- GGGACCTTATCGGAGGCAC -3'
(R):5'- CACTCTAAAGACTGGAGTGGGAAGAG -3'

Posted On

2014-10-01