Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Agbl5'

537204

Institutional Source

Beutler Lab

Gene Symbol

Agbl5

Ensembl Gene

ENSMUSG00000029165

Gene Name

ATP/GTP binding protein-like 5

Synonyms

Ccp5, 9430057O19Rik

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31046038-31064309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31052522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 61 (R61L)

Ref Sequence

ENSEMBL: ENSMUSP00000144441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069705] [ENSMUST00000114700] [ENSMUST00000200695] [ENSMUST00000200850] [ENSMUST00000201168] [ENSMUST00000201225] [ENSMUST00000201817] [ENSMUST00000201917] [ENSMUST00000202060] [ENSMUST00000202109]

AlphaFold

Q09M02

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069705
AA Change: R618L

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063228
Gene: ENSMUSG00000029165
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	191	361	8.4e-19	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	4e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114700
AA Change: R647L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110348
Gene: ENSMUSG00000029165
AA Change: R647L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	220	390	1.1e-18	PFAM
low complexity region	413	428	N/A	INTRINSIC
Blast:Zn_pept	453	518	5e-14	BLAST
low complexity region	567	577	N/A	INTRINSIC
low complexity region	672	683	N/A	INTRINSIC
low complexity region	743	762	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200695

SMART Domains

Protein: ENSMUSP00000144109
Gene: ENSMUSG00000029165

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
SCOP:d2ctc__	148	177	5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200850

SMART Domains

Protein: ENSMUSP00000144274
Gene: ENSMUSG00000029165

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
SCOP:d1jqga1	178	229	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201014

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201168
AA Change: R618L

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143808
Gene: ENSMUSG00000029165
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	370	7.3e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC
low complexity region	836	847	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201225
AA Change: R618L

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143934
Gene: ENSMUSG00000029165
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	373	5.9e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201817
AA Change: R618L

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144304
Gene: ENSMUSG00000029165
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	372	6.4e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201917
AA Change: R618L

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144188
Gene: ENSMUSG00000029165
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	372	6.5e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC
low complexity region	795	806	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202060
AA Change: R618L

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144018
Gene: ENSMUSG00000029165
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	373	5.9e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202109
AA Change: R61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to HSV or VACV infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	probably benign	Het

Other mutations in Agbl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Agbl5	APN	5	31,050,578 (GRCm39)	missense	probably benign	0.00
sausage	UTSW	5	31,051,702 (GRCm39)	nonsense	probably null
R0355:Agbl5	UTSW	5	31,049,335 (GRCm39)	critical splice donor site	probably null
R0575:Agbl5	UTSW	5	31,051,798 (GRCm39)	missense	probably damaging	1.00
R1694:Agbl5	UTSW	5	31,050,726 (GRCm39)	missense	probably damaging	1.00
R1709:Agbl5	UTSW	5	31,063,585 (GRCm39)	missense	probably damaging	1.00
R1829:Agbl5	UTSW	5	31,060,408 (GRCm39)	missense	possibly damaging	0.66
R2434:Agbl5	UTSW	5	31,051,357 (GRCm39)	missense	probably damaging	0.97
R3418:Agbl5	UTSW	5	31,062,067 (GRCm39)	missense	probably damaging	1.00
R4827:Agbl5	UTSW	5	31,053,158 (GRCm39)	missense	probably damaging	1.00
R4828:Agbl5	UTSW	5	31,048,059 (GRCm39)	missense	probably damaging	1.00
R4830:Agbl5	UTSW	5	31,048,059 (GRCm39)	missense	probably damaging	1.00
R5017:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5018:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5036:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5038:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5052:Agbl5	UTSW	5	31,048,558 (GRCm39)	missense	possibly damaging	0.76
R5071:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5073:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5074:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5081:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5083:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5103:Agbl5	UTSW	5	31,051,345 (GRCm39)	missense	probably damaging	1.00
R5107:Agbl5	UTSW	5	31,049,822 (GRCm39)	missense	probably damaging	1.00
R5130:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5395:Agbl5	UTSW	5	31,047,682 (GRCm39)	missense	probably damaging	1.00
R5522:Agbl5	UTSW	5	31,051,247 (GRCm39)	splice site	probably null
R5524:Agbl5	UTSW	5	31,051,247 (GRCm39)	splice site	probably null
R5526:Agbl5	UTSW	5	31,051,247 (GRCm39)	splice site	probably null
R5657:Agbl5	UTSW	5	31,051,390 (GRCm39)	missense	probably damaging	1.00
R5790:Agbl5	UTSW	5	31,051,702 (GRCm39)	nonsense	probably null
R6301:Agbl5	UTSW	5	31,049,177 (GRCm39)	missense	probably damaging	1.00
R6919:Agbl5	UTSW	5	31,062,061 (GRCm39)	missense	probably benign	0.13
R7388:Agbl5	UTSW	5	31,060,583 (GRCm39)	nonsense	probably null
R7392:Agbl5	UTSW	5	31,048,115 (GRCm39)	critical splice donor site	probably null
R7410:Agbl5	UTSW	5	31,048,032 (GRCm39)	missense	possibly damaging	0.94
R7452:Agbl5	UTSW	5	31,050,735 (GRCm39)	missense	probably damaging	1.00
R8312:Agbl5	UTSW	5	31,051,850 (GRCm39)	missense	probably damaging	1.00
R8901:Agbl5	UTSW	5	31,048,435 (GRCm39)	missense	possibly damaging	0.58
RF007:Agbl5	UTSW	5	31,060,589 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTTGGGCAAACAGCAGCTAG -3'
(R):5'- CGGATCTTCAGCTCCTTAGATG -3'

Sequencing Primer
(F):5'- CACAGGTGGGGCGAGCTATG -3'
(R):5'- CAGCTCCTTAGATGTAGCTCTAGG -3'

Posted On

2018-10-18