Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Antxrl'

366355

Institutional Source

Beutler Lab

Gene Symbol

Antxrl

Ensembl Gene

ENSMUSG00000047441

Gene Name

anthrax toxin receptor-like

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34052707-34076405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34073070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 485 (H485R)

Ref Sequence

ENSEMBL: ENSMUSP00000052816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058725] [ENSMUST00000178958]

AlphaFold

Q8BVM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058725
AA Change: H485R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: H485R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
VWA	74	248	2.9e-19	SMART
Pfam:Anth_Ig	249	351	6.7e-41	PFAM
low complexity region	370	381	N/A	INTRINSIC
low complexity region	392	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215823

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,660,217	S1264A	probably benign	Het
Adamts13	T	G	2: 27,008,711	Y1361*	probably null	Het
Ahrr	A	T	13: 74,214,212	D389E	probably damaging	Het
Alx3	T	C	3: 107,600,691	F172S	probably damaging	Het
Aox4	A	G	1: 58,259,148	D1091G	probably null	Het
Btbd1	T	A	7: 81,805,810	Q271L	probably benign	Het
Cd209c	A	T	8: 3,944,953	N70K	probably benign	Het
Cdc14a	C	T	3: 116,294,750		probably null	Het
Cenpe	A	G	3: 135,248,151	M1641V	probably benign	Het
Clec2e	G	A	6: 129,100,827	T16I	probably benign	Het
Clp1	T	C	2: 84,725,875	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,426,148	F517I	probably damaging	Het
Dzip3	T	C	16: 48,938,474	N646S	probably damaging	Het
Ephx1	T	A	1: 180,995,978	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,495,767	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,440,849	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,141,783		probably null	Het
Ift81	G	T	5: 122,594,593	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Il6	T	G	5: 30,018,078	L114*	probably null	Het
Ism2	A	T	12: 87,299,581	M42K	probably benign	Het
Lhx5	A	G	5: 120,436,438	E269G	probably benign	Het
Marveld1	T	G	19: 42,147,995	M116R	possibly damaging	Het
Micall2	A	G	5: 139,706,886	S911P	probably damaging	Het
Mier1	G	A	4: 103,140,220	R195H	probably benign	Het
Muc2	T	A	7: 141,699,691		probably null	Het
Mybbp1a	A	G	11: 72,445,640	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,185,745	L179R	probably damaging	Het
Nos1	C	T	5: 117,943,245	Q1171*	probably null	Het
Nrg1	T	A	8: 31,917,972	I78F	probably damaging	Het
Olfr1163	T	G	2: 88,070,729	T218P	probably benign	Het
Olfr220	T	G	1: 174,448,958	F112V	possibly damaging	Het
Plek2	C	T	12: 78,906,890		probably null	Het
Plod2	A	G	9: 92,595,272	H339R	probably damaging	Het
Pold1	C	T	7: 44,535,071	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,950,868	I868V	probably benign	Het
Prss54	C	A	8: 95,559,375	V357L	probably benign	Het
Rbbp8	T	A	18: 11,722,670	S625T	probably damaging	Het
Rgs1	A	T	1: 144,247,929	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,744,062	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,676,222	L1011F	probably damaging	Het
Slc19a3	G	A	1: 83,019,341	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991	L537Q	probably damaging	Het
Trim45	C	A	3: 100,931,734		probably benign	Het
Umodl1	G	T	17: 30,984,002	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,137,612	R87K	probably damaging	Het
Vmn1r78	T	A	7: 12,152,798	I112N	probably damaging	Het
Zeb2	T	G	2: 44,996,435	E825A	probably damaging	Het
Zfp930	A	T	8: 69,226,692	I50F	probably benign	Het

Other mutations in Antxrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Antxrl	APN	14	34075597	missense	probably benign	0.01
IGL01632:Antxrl	APN	14	34067947	missense	probably damaging	0.99
IGL02379:Antxrl	APN	14	34056535	splice site	probably null
IGL02381:Antxrl	APN	14	34056611	splice site	probably null
IGL02736:Antxrl	APN	14	34056618	unclassified	probably benign
R0631:Antxrl	UTSW	14	34058801	critical splice donor site	probably null
R1190:Antxrl	UTSW	14	34069250	missense	probably benign	0.00
R1406:Antxrl	UTSW	14	34073042	missense	possibly damaging	0.53
R1406:Antxrl	UTSW	14	34073042	missense	possibly damaging	0.53
R1454:Antxrl	UTSW	14	34060949	missense	probably damaging	0.99
R1469:Antxrl	UTSW	14	34067431	intron	probably benign
R1638:Antxrl	UTSW	14	34070496	critical splice donor site	probably null
R1996:Antxrl	UTSW	14	34075829	missense	probably benign	0.01
R2174:Antxrl	UTSW	14	34060400	missense	probably damaging	1.00
R2421:Antxrl	UTSW	14	34071689	intron	probably benign
R3850:Antxrl	UTSW	14	34067381	missense	probably benign	0.00
R4178:Antxrl	UTSW	14	34054971	splice site	probably null
R4434:Antxrl	UTSW	14	34071617	intron	probably benign
R4603:Antxrl	UTSW	14	34075835	missense	possibly damaging	0.72
R6003:Antxrl	UTSW	14	34075635	missense	possibly damaging	0.72
R6047:Antxrl	UTSW	14	34053476	intron	probably benign
R6228:Antxrl	UTSW	14	34056599	missense	probably damaging	1.00
R6363:Antxrl	UTSW	14	34069287	missense	probably damaging	1.00
R6525:Antxrl	UTSW	14	34060406	missense	probably damaging	1.00
R6800:Antxrl	UTSW	14	34065907	missense	probably damaging	1.00
R6933:Antxrl	UTSW	14	34075771	missense	possibly damaging	0.53
R7086:Antxrl	UTSW	14	34065916	missense	probably benign	0.26
R7257:Antxrl	UTSW	14	34065849	missense	probably benign	0.03
R7315:Antxrl	UTSW	14	34071547	missense	unknown
R7981:Antxrl	UTSW	14	34065881	missense	probably damaging	0.99
R9070:Antxrl	UTSW	14	34071714	nonsense	probably null
R9097:Antxrl	UTSW	14	34071703	missense	probably benign	0.33
X0028:Antxrl	UTSW	14	34053915	critical splice donor site	probably null
Z1088:Antxrl	UTSW	14	34067971	missense	probably damaging	1.00
Z1177:Antxrl	UTSW	14	34067930	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAGGTCTTTAGACTGGTCTC -3'
(R):5'- CCCAGCTGACACTTAGCTTTG -3'

Sequencing Primer
(F):5'- AGACTGGTCTCTCTCTGGAG -3'
(R):5'- ACTCTTCAGGGGACTTCAGG -3'

Posted On

2015-12-21