Mutagenetix > Incidental Mutations

Incidental Mutation 'R3907:Ank2'

474622

Institutional Source

Beutler Lab

Gene Symbol

Ank2

Ensembl Gene

ENSMUSG00000032826

Gene Name

ankyrin 2, brain

Synonyms

Ankyrin-B, Ank-2, Ankyrin-2, Gm4392, ankyrin B

MMRRC Submission

040908-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126921612-127499350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127016898 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 513 (L513P)

Ref Sequence

ENSEMBL: ENSMUSP00000138251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182064] [ENSMUST00000182078] [ENSMUST00000182711] [ENSMUST00000182959]

Predicted Effect

probably damaging
Transcript: ENSMUST00000182064
AA Change: L534P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138620
Gene: ENSMUSG00000032826
AA Change: L534P

Domain	Start	End	E-Value	Type
ANK	9	38	1e1	SMART
ANK	42	71	8.9e-7	SMART
ANK	75	104	4.4e-9	SMART
ANK	108	137	2.8e-9	SMART
ANK	141	169	5.3e-1	SMART
ANK	170	199	7.3e-1	SMART
ANK	211	240	1.1e-7	SMART
ANK	244	273	4.4e-9	SMART
ANK	277	306	9.3e-8	SMART
ANK	310	339	2.1e-8	SMART
ANK	343	372	1.3e-7	SMART
ANK	376	405	6.2e-9	SMART
ANK	409	438	1.1e-7	SMART
ANK	442	471	2.9e-8	SMART
ANK	475	504	1.1e-5	SMART
ANK	508	537	6.5e-6	SMART
ANK	541	570	2.3e-7	SMART
ANK	574	603	2.4e-7	SMART
ANK	607	636	3.2e-9	SMART
ANK	640	669	5.5e-5	SMART
ANK	673	702	1.9e-8	SMART
ANK	706	735	3.3e-9	SMART
low complexity region	755	775	N/A	INTRINSIC
low complexity region	793	806	N/A	INTRINSIC
low complexity region	841	853	N/A	INTRINSIC
ZU5	912	1016	2e-63	SMART
low complexity region	1371	1381	N/A	INTRINSIC
low complexity region	1448	1463	N/A	INTRINSIC
low complexity region	1490	1503	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182078
AA Change: L513P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138753
Gene: ENSMUSG00000032826
AA Change: L513P

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	114	125	N/A	INTRINSIC
low complexity region	191	209	N/A	INTRINSIC
low complexity region	304	312	N/A	INTRINSIC
low complexity region	478	493	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
DEATH	591	685	1e-29	SMART
low complexity region	720	736	N/A	INTRINSIC
low complexity region	848	861	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182711
AA Change: L530P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138781
Gene: ENSMUSG00000032826
AA Change: L530P

Domain	Start	End	E-Value	Type
ANK	26	55	1e1	SMART
ANK	59	88	8.9e-7	SMART
ANK	92	121	4.4e-9	SMART
ANK	125	154	2.8e-9	SMART
ANK	158	186	5.3e-1	SMART
ANK	187	216	7.3e-1	SMART
ANK	228	257	1.1e-7	SMART
ANK	261	290	4.4e-9	SMART
ANK	294	323	9.3e-8	SMART
ANK	327	356	2.1e-8	SMART
ANK	360	389	1.3e-7	SMART
ANK	393	422	6.2e-9	SMART
ANK	426	455	1.1e-7	SMART
ANK	459	488	2.9e-8	SMART
ANK	492	521	1.1e-5	SMART
ANK	525	554	6.5e-6	SMART
ANK	558	587	2.3e-7	SMART
ANK	591	620	5.3e-7	SMART
ANK	624	653	2.4e-7	SMART
ANK	657	686	3.2e-9	SMART
ANK	690	719	5.5e-5	SMART
ANK	723	752	1.9e-8	SMART
ANK	756	785	3.3e-9	SMART
low complexity region	805	825	N/A	INTRINSIC
low complexity region	843	856	N/A	INTRINSIC
ZU5	961	1098	1.1e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000182959
AA Change: L513P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138251
Gene: ENSMUSG00000032826
AA Change: L513P

Domain	Start	End	E-Value	Type
ANK	9	38	1.63e3	SMART
ANK	42	71	1.4e-4	SMART
ANK	75	104	6.76e-7	SMART
ANK	108	137	4.46e-7	SMART
ANK	141	169	8.36e1	SMART
ANK	170	199	1.17e2	SMART
ANK	211	240	1.76e-5	SMART
ANK	244	273	6.76e-7	SMART
ANK	277	306	1.43e-5	SMART
ANK	310	339	3.33e-6	SMART
ANK	343	372	2.02e-5	SMART
ANK	376	405	9.55e-7	SMART
ANK	409	438	1.76e-5	SMART
ANK	442	471	4.71e-6	SMART
ANK	475	504	1.7e-3	SMART
ANK	508	537	1.05e-3	SMART
ANK	541	570	3.51e-5	SMART
ANK	574	603	8.65e-5	SMART
ANK	607	636	3.76e-5	SMART
ANK	640	669	5.12e-7	SMART
ANK	673	702	8.39e-3	SMART
ANK	706	735	2.9e-6	SMART
ANK	739	768	5.12e-7	SMART
low complexity region	788	808	N/A	INTRINSIC
low complexity region	826	839	N/A	INTRINSIC
low complexity region	874	886	N/A	INTRINSIC
Pfam:ZU5	945	1028	1.5e-30	PFAM
Pfam:ZU5	1021	1082	4.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183097

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in death by postnatal day 8, although some animals survive to P20. Mutant animals display reduced body size, impaired balance and locomotion, brain structure dysmorphologies, abnormal lens, and optic nerve degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,736,576	A663T	probably damaging	Het
Adamts3	C	A	5: 89,861,355	G150C	probably damaging	Het
Ampd3	A	G	7: 110,793,670	D215G	possibly damaging	Het
Apba1	T	C	19: 23,937,506	I690T	probably damaging	Het
Arid1a	T	C	4: 133,692,912		probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asns	C	T	6: 7,682,270		probably null	Het
Aspg	T	A	12: 112,112,259	Y57*	probably null	Het
Asph	T	C	4: 9,474,934	K680R	probably benign	Het
Atp2b4	A	T	1: 133,738,586	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,084,269	M483K	probably damaging	Het
Car4	G	A	11: 84,964,357	V141M	probably damaging	Het
Cct4	A	G	11: 23,001,560	I376V	probably benign	Het
Chrm4	C	T	2: 91,927,739	A164V	probably damaging	Het
Csf3r	A	T	4: 126,034,447	D291V	probably benign	Het
Dcaf6	A	T	1: 165,424,380	C58*	probably null	Het
Ddi2	T	C	4: 141,684,281	D440G	probably benign	Het
Defb4	A	T	8: 19,201,261	Q48L	possibly damaging	Het
Duox2	C	T	2: 122,283,060		probably null	Het
E130308A19Rik	C	T	4: 59,752,393	T502I	probably benign	Het
Ephb1	A	G	9: 102,001,726	C522R	probably benign	Het
Fam76a	T	C	4: 132,916,121	K101E	probably damaging	Het
Fat1	G	C	8: 45,023,035	R1706T	probably benign	Het
Fn1	C	T	1: 71,607,913	G1482R	probably damaging	Het
Gm10110	T	C	14: 89,898,147		noncoding transcript	Het
Gphn	T	A	12: 78,493,942		probably benign	Het
Hars	A	T	18: 36,782,716	D48E	probably benign	Het
Hmgcll1	G	A	9: 76,072,661	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,253,918	S18P	probably damaging	Het
Iws1	G	A	18: 32,079,920	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,485,745	H11Q	probably benign	Het
Krt16	A	G	11: 100,247,163	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,408,768	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 131,056,914	S234T	probably damaging	Het
Mum1	T	C	10: 80,238,316	V401A	probably damaging	Het
Mxd1	G	T	6: 86,650,960	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,433,646	D905E	possibly damaging	Het
Olfr1222	A	C	2: 89,125,583	Y49*	probably null	Het
Olfr5	A	T	7: 6,480,679	V159D	probably damaging	Het
Otoa	A	T	7: 121,125,565	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,384,550	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,761,490	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,174	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,725,276	D347G	possibly damaging	Het
Rcan1	A	G	16: 92,466,029		probably benign	Het
Rif1	C	T	2: 52,112,545	L2004F	probably benign	Het
Rnf185	A	G	11: 3,426,681		probably benign	Het
Shank2	C	T	7: 144,409,576	P307L	probably damaging	Het
Slc19a3	G	A	1: 83,014,813	R396C	possibly damaging	Het
Stn1	T	C	19: 47,507,823	D321G	probably damaging	Het
Taar7a	T	C	10: 23,992,559	Y308C	probably benign	Het
Tespa1	T	C	10: 130,356,797		probably benign	Het
Tmcc2	T	C	1: 132,360,638	D359G	probably damaging	Het
Trhde	C	T	10: 114,800,696	G202E	possibly damaging	Het
Trip12	T	C	1: 84,732,106	T469A	possibly damaging	Het
Trip4	A	G	9: 65,833,426	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,416,543	I154T	probably damaging	Het
Ttn	C	A	2: 76,903,342		probably benign	Het
Ugt8a	T	C	3: 125,914,982	T160A	possibly damaging	Het
Usp54	A	T	14: 20,586,113	S288T	probably damaging	Het
Utrn	C	T	10: 12,710,182		probably benign	Het

Other mutations in Ank2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Ank2	APN	3	126959720	missense	possibly damaging	0.80
IGL01652:Ank2	APN	3	126933041	missense	probably benign	0.00
IGL01969:Ank2	APN	3	126953223	missense	possibly damaging	0.47
IGL02122:Ank2	APN	3	126937874	splice site	probably benign
IGL02537:Ank2	APN	3	126955916	missense	probably damaging	1.00
IGL02858:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL02981:Ank2	APN	3	126934562	missense	possibly damaging	0.58
IGL02981:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03024:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03074:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03111:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03129:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03174:Ank2	APN	3	126940095	missense	probably damaging	0.98
IGL03177:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03185:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03188:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03242:Ank2	APN	3	126928805	missense	possibly damaging	0.90
IGL03244:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03248:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03285:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03304:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03358:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03380:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03389:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03400:Ank2	APN	3	126955870	missense	probably damaging	1.00
IGL03409:Ank2	APN	3	126955870	missense	probably damaging	1.00
ballast	UTSW	3	126943133	missense	unknown
Chain	UTSW	3	126946938	intron	probably benign
drag	UTSW	3	127003982	missense	probably damaging	1.00
mooring	UTSW	3	126934577	missense	possibly damaging	0.73
Windlass	UTSW	3	126946149	missense	probably benign
R0033:Ank2	UTSW	3	127104748	splice site	probably benign
R0042:Ank2	UTSW	3	126936631	missense	probably damaging	0.99
R0042:Ank2	UTSW	3	126936631	missense	probably damaging	0.99
R0079:Ank2	UTSW	3	126934615	missense	probably benign	0.01
R0423:Ank2	UTSW	3	126929860	nonsense	probably null
R0699:Ank2	UTSW	3	126929829	missense	probably benign	0.00
R0724:Ank2	UTSW	3	126962337	missense	probably damaging	1.00
R0990:Ank2	UTSW	3	126934666	missense	possibly damaging	0.64
R1450:Ank2	UTSW	3	126957302	missense	possibly damaging	0.94
R1500:Ank2	UTSW	3	126932982	missense	probably benign
R1702:Ank2	UTSW	3	126955899	missense	probably benign	0.00
R1703:Ank2	UTSW	3	126929766	missense	probably damaging	1.00
R1710:Ank2	UTSW	3	126933060	nonsense	probably null
R1743:Ank2	UTSW	3	126928675	missense	probably damaging	0.99
R1775:Ank2	UTSW	3	126934547	missense	probably benign	0.00
R1852:Ank2	UTSW	3	126997851	critical splice donor site	probably null
R2198:Ank2	UTSW	3	126934577	missense	possibly damaging	0.73
R2892:Ank2	UTSW	3	127248243	splice site	probably null
R2893:Ank2	UTSW	3	127248243	splice site	probably null
R2894:Ank2	UTSW	3	127248243	splice site	probably null
R3148:Ank2	UTSW	3	126933075	missense	probably benign	0.00
R3776:Ank2	UTSW	3	126942262	intron	probably benign
R3784:Ank2	UTSW	3	126953193	missense	probably damaging	1.00
R3856:Ank2	UTSW	3	126929844	missense	probably benign	0.00
R3906:Ank2	UTSW	3	127016898	missense	probably damaging	1.00
R3953:Ank2	UTSW	3	126988160	missense	probably damaging	1.00
R3963:Ank2	UTSW	3	126934596	missense	probably benign
R4367:Ank2	UTSW	3	126946149	missense	probably benign
R4414:Ank2	UTSW	3	127225762	critical splice donor site	probably null
R4432:Ank2	UTSW	3	126947806	intron	probably benign
R4433:Ank2	UTSW	3	126947806	intron	probably benign
R4579:Ank2	UTSW	3	126958963	missense	probably damaging	1.00
R4597:Ank2	UTSW	3	126988151	missense	probably damaging	1.00
R4603:Ank2	UTSW	3	127032016	missense	probably benign	0.00
R4729:Ank2	UTSW	3	126976896	nonsense	probably null
R4815:Ank2	UTSW	3	126936761	missense	probably benign
R4826:Ank2	UTSW	3	126956001	missense	probably benign	0.35
R4871:Ank2	UTSW	3	126959795	missense	probably damaging	1.00
R4880:Ank2	UTSW	3	127046826	splice site	probably null
R4915:Ank2	UTSW	3	126942671	intron	probably benign
R4935:Ank2	UTSW	3	126956064	missense	probably damaging	1.00
R4936:Ank2	UTSW	3	126955039	missense	possibly damaging	0.94
R4937:Ank2	UTSW	3	126962401	missense	probably damaging	1.00
R4946:Ank2	UTSW	3	126941940	intron	probably benign
R4963:Ank2	UTSW	3	127032096	missense	probably benign	0.01
R4989:Ank2	UTSW	3	126963445	missense	possibly damaging	0.94
R5023:Ank2	UTSW	3	126941871	intron	probably benign
R5060:Ank2	UTSW	3	126945921	intron	probably benign
R5078:Ank2	UTSW	3	126942353	intron	probably benign
R5086:Ank2	UTSW	3	126947348	intron	probably benign
R5134:Ank2	UTSW	3	126963445	missense	possibly damaging	0.94
R5148:Ank2	UTSW	3	127025636	intron	probably null
R5175:Ank2	UTSW	3	127004024	missense	probably damaging	1.00
R5275:Ank2	UTSW	3	127032183	missense	probably damaging	1.00
R5295:Ank2	UTSW	3	127032183	missense	probably damaging	1.00
R5303:Ank2	UTSW	3	126945804	intron	probably benign
R5309:Ank2	UTSW	3	126959768	missense	probably damaging	0.99
R5312:Ank2	UTSW	3	126959768	missense	probably damaging	0.99
R5352:Ank2	UTSW	3	127498991	utr 5 prime	probably benign
R5355:Ank2	UTSW	3	126944049	intron	probably benign
R5386:Ank2	UTSW	3	126981933	missense	probably benign	0.01
R5396:Ank2	UTSW	3	126953226	missense	probably damaging	1.00
R5518:Ank2	UTSW	3	126959699	missense	probably damaging	0.98
R5534:Ank2	UTSW	3	126947298	intron	probably benign
R5554:Ank2	UTSW	3	126998973	missense	possibly damaging	0.78
R5582:Ank2	UTSW	3	126946305	intron	probably benign
R5747:Ank2	UTSW	3	126941751	intron	probably benign
R5794:Ank2	UTSW	3	126930020	missense	probably benign	0.00
R5831:Ank2	UTSW	3	127339159	start gained	probably benign
R5925:Ank2	UTSW	3	126932963	missense	probably benign	0.18
R5954:Ank2	UTSW	3	126997861	missense	probably benign	0.34
R5956:Ank2	UTSW	3	126942688	intron	probably benign
R5986:Ank2	UTSW	3	127012686	missense	possibly damaging	0.94
R5992:Ank2	UTSW	3	126959651	critical splice donor site	probably null
R6020:Ank2	UTSW	3	126946821	intron	probably benign
R6027:Ank2	UTSW	3	126997879	missense	possibly damaging	0.92
R6049:Ank2	UTSW	3	126943020	missense	possibly damaging	0.95
R6060:Ank2	UTSW	3	126955952	missense	probably damaging	1.00
R6114:Ank2	UTSW	3	127011051	missense	probably damaging	1.00
R6124:Ank2	UTSW	3	127248151	missense	probably benign	0.31
R6156:Ank2	UTSW	3	126944237	missense	probably damaging	1.00
R6173:Ank2	UTSW	3	127052746	missense	probably damaging	1.00
R6176:Ank2	UTSW	3	126945471	missense	probably benign	0.05
R6184:Ank2	UTSW	3	126962398	missense	probably damaging	1.00
R6199:Ank2	UTSW	3	127004006	missense	probably damaging	1.00
R6241:Ank2	UTSW	3	127052748	missense	probably damaging	1.00
R6254:Ank2	UTSW	3	126941804	intron	probably benign
R6259:Ank2	UTSW	3	127016986	missense	probably benign	0.28
R6260:Ank2	UTSW	3	126943557	missense	probably benign
R6321:Ank2	UTSW	3	126946938	intron	probably benign
R6393:Ank2	UTSW	3	126929757	missense	probably damaging	1.00
R6406:Ank2	UTSW	3	127032225	missense	probably damaging	1.00
R6544:Ank2	UTSW	3	126933222	missense	probably damaging	0.99
R6583:Ank2	UTSW	3	127016964	missense	probably damaging	1.00
R6739:Ank2	UTSW	3	127079994	missense	probably damaging	1.00
R6754:Ank2	UTSW	3	127096839	intron	probably benign
R6786:Ank2	UTSW	3	126958932	missense	probably damaging	0.99
R6798:Ank2	UTSW	3	126944264	intron	probably benign
R6882:Ank2	UTSW	3	126945757	intron	probably benign
R6940:Ank2	UTSW	3	126941972	intron	probably benign
R6949:Ank2	UTSW	3	127010884	missense	probably benign	0.00
R7001:Ank2	UTSW	3	127077581	missense	probably damaging	1.00
R7033:Ank2	UTSW	3	126944850	nonsense	probably null
R7036:Ank2	UTSW	3	126946392	intron	probably benign
R7045:Ank2	UTSW	3	127012744	missense	probably damaging	1.00
R7048:Ank2	UTSW	3	127025618	missense	probably benign	0.03
R7054:Ank2	UTSW	3	126943303	intron	probably benign
R7069:Ank2	UTSW	3	126946298	intron	probably benign
R7091:Ank2	UTSW	3	127023351	missense	probably damaging	0.98
R7107:Ank2	UTSW	3	127003982	missense	probably damaging	1.00
R7175:Ank2	UTSW	3	126946941	missense	unknown
R7191:Ank2	UTSW	3	126946392	missense	unknown
R7272:Ank2	UTSW	3	126943133	missense	unknown
R7381:Ank2	UTSW	3	126936628	missense	possibly damaging	0.46
R7394:Ank2	UTSW	3	126936653	missense	possibly damaging	0.77
R7462:Ank2	UTSW	3	126943034	missense	unknown
R7490:Ank2	UTSW	3	126958889	missense	probably damaging	0.99
R7514:Ank2	UTSW	3	127025603	missense	probably benign	0.06
R7534:Ank2	UTSW	3	126934333	intron	probably null
R7540:Ank2	UTSW	3	126988159	missense	possibly damaging	0.94
R7547:Ank2	UTSW	3	126945203	missense	unknown
R7579:Ank2	UTSW	3	126946398	missense	unknown
R7584:Ank2	UTSW	3	126946128	nonsense	probably null
R7625:Ank2	UTSW	3	127052800	missense	probably damaging	1.00
R7698:Ank2	UTSW	3	127032211	missense	probably benign	0.35
R7716:Ank2	UTSW	3	126943166	missense	unknown
R7718:Ank2	UTSW	3	126965013	missense	possibly damaging	0.88
R7722:Ank2	UTSW	3	127029302	missense	probably benign	0.01
R7738:Ank2	UTSW	3	126947622	missense
RF020:Ank2	UTSW	3	126945476	missense	unknown
Z1088:Ank2	UTSW	3	127029509	missense	possibly damaging	0.45
Z1177:Ank2	UTSW	3	126944357	missense	unknown

Predicted Primers

Posted On

2017-04-14