Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Agbl2'

214833

Institutional Source

Beutler Lab

Gene Symbol

Agbl2

Ensembl Gene

ENSMUSG00000040812

Gene Name

ATP/GTP binding protein-like 2

Synonyms

Ccp2, A430081C19Rik, Ccp2

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90613071-90664781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90645785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 839 (R839S)

Ref Sequence

ENSEMBL: ENSMUSP00000129216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]

AlphaFold

Q8CDK2

Predicted Effect

probably benign
Transcript: ENSMUST00000037206

SMART Domains

Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	375	541	1.8e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037219
AA Change: R839S

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: R839S

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	5e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051831

SMART Domains

Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	376	565	1.6e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111481
AA Change: R839S

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: R839S

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	5e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136058

SMART Domains

Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	2.8e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149037

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170320
AA Change: R839S

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: R839S

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	376	558	1.8e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Meta Mutation Damage Score

0.1325

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

MGI Phenotype

PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	probably damaging	Het

Other mutations in Agbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Agbl2	APN	2	90,631,389 (GRCm39)	missense	probably damaging	1.00
IGL00515:Agbl2	APN	2	90,624,304 (GRCm39)	missense	possibly damaging	0.93
IGL01694:Agbl2	APN	2	90,631,418 (GRCm39)	missense	probably damaging	1.00
IGL02064:Agbl2	APN	2	90,614,368 (GRCm39)	utr 5 prime	probably benign
IGL02708:Agbl2	APN	2	90,631,686 (GRCm39)	missense	probably benign	0.23
IGL02715:Agbl2	APN	2	90,636,212 (GRCm39)	missense	probably damaging	0.99
IGL02717:Agbl2	APN	2	90,636,212 (GRCm39)	missense	probably damaging	0.99
IGL02982:Agbl2	APN	2	90,636,159 (GRCm39)	missense	probably damaging	1.00
IGL03039:Agbl2	APN	2	90,631,566 (GRCm39)	missense	possibly damaging	0.93
IGL03339:Agbl2	APN	2	90,627,907 (GRCm39)	missense	probably damaging	1.00
R0243:Agbl2	UTSW	2	90,621,825 (GRCm39)	missense	possibly damaging	0.80
R0381:Agbl2	UTSW	2	90,614,442 (GRCm39)	missense	probably damaging	1.00
R0441:Agbl2	UTSW	2	90,627,827 (GRCm39)	nonsense	probably null
R0549:Agbl2	UTSW	2	90,620,187 (GRCm39)	splice site	probably benign
R0665:Agbl2	UTSW	2	90,631,554 (GRCm39)	missense	probably damaging	1.00
R1412:Agbl2	UTSW	2	90,619,298 (GRCm39)	missense	probably benign
R1682:Agbl2	UTSW	2	90,614,434 (GRCm39)	missense	probably benign	0.06
R1694:Agbl2	UTSW	2	90,631,664 (GRCm39)	missense	probably damaging	1.00
R1733:Agbl2	UTSW	2	90,641,089 (GRCm39)	missense	probably damaging	1.00
R1750:Agbl2	UTSW	2	90,646,720 (GRCm39)	utr 3 prime	probably benign
R1940:Agbl2	UTSW	2	90,641,626 (GRCm39)	missense	probably damaging	0.99
R3115:Agbl2	UTSW	2	90,636,245 (GRCm39)	missense	possibly damaging	0.85
R3407:Agbl2	UTSW	2	90,621,962 (GRCm39)	missense	probably damaging	1.00
R3710:Agbl2	UTSW	2	90,636,152 (GRCm39)	missense	probably benign	0.00
R4227:Agbl2	UTSW	2	90,631,797 (GRCm39)	missense	probably damaging	0.96
R4719:Agbl2	UTSW	2	90,645,733 (GRCm39)	missense	probably benign	0.01
R4903:Agbl2	UTSW	2	90,627,817 (GRCm39)	missense	possibly damaging	0.50
R5170:Agbl2	UTSW	2	90,633,541 (GRCm39)	missense	probably benign	0.10
R5535:Agbl2	UTSW	2	90,640,350 (GRCm39)	missense	probably benign	0.26
R5677:Agbl2	UTSW	2	90,638,322 (GRCm39)	missense	possibly damaging	0.66
R6041:Agbl2	UTSW	2	90,638,371 (GRCm39)	missense	probably benign	0.00
R6195:Agbl2	UTSW	2	90,643,657 (GRCm39)	missense	probably benign	0.02
R6233:Agbl2	UTSW	2	90,643,657 (GRCm39)	missense	probably benign	0.02
R6607:Agbl2	UTSW	2	90,631,670 (GRCm39)	missense	probably damaging	0.99
R6752:Agbl2	UTSW	2	90,633,418 (GRCm39)	missense	probably damaging	1.00
R7104:Agbl2	UTSW	2	90,627,891 (GRCm39)	missense	probably damaging	1.00
R7261:Agbl2	UTSW	2	90,619,288 (GRCm39)	missense	possibly damaging	0.94
R7555:Agbl2	UTSW	2	90,621,899 (GRCm39)	missense	probably damaging	1.00
R7704:Agbl2	UTSW	2	90,619,349 (GRCm39)	missense	probably benign	0.05
R7833:Agbl2	UTSW	2	90,645,777 (GRCm39)	missense	probably benign	0.00
R7960:Agbl2	UTSW	2	90,621,975 (GRCm39)	missense	probably benign	0.01
R8070:Agbl2	UTSW	2	90,621,909 (GRCm39)	missense	probably benign	0.00
R8248:Agbl2	UTSW	2	90,627,908 (GRCm39)	missense	probably damaging	1.00
R8249:Agbl2	UTSW	2	90,627,908 (GRCm39)	missense	probably damaging	1.00
R8250:Agbl2	UTSW	2	90,627,908 (GRCm39)	missense	probably damaging	1.00
R8486:Agbl2	UTSW	2	90,631,499 (GRCm39)	missense	possibly damaging	0.61
R8501:Agbl2	UTSW	2	90,627,908 (GRCm39)	missense	probably damaging	1.00
R8856:Agbl2	UTSW	2	90,632,088 (GRCm39)	missense	probably damaging	1.00
R9039:Agbl2	UTSW	2	90,645,730 (GRCm39)	missense	probably benign	0.00
R9475:Agbl2	UTSW	2	90,614,437 (GRCm39)	missense	probably benign	0.00
R9513:Agbl2	UTSW	2	90,631,458 (GRCm39)	missense	possibly damaging	0.60
R9580:Agbl2	UTSW	2	90,636,248 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACCTCTGCCCTGCAATAGTG -3'
(R):5'- TCTAAGGACAGTGCACAGCG -3'

Sequencing Primer
(F):5'- CTGCCCTGCAATAGTGTTAATTG -3'
(R):5'- CCCATAAACTTTTCAGGAGGGCTG -3'

Posted On

2014-07-14