Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Ap2b1'

724811

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83402598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 937 (V937A)

Ref Sequence

ENSEMBL: ENSMUSP00000018875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523]

AlphaFold

Q9DBG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000018875
AA Change: V937A

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

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: V937A

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	2.6e-173	PFAM
Pfam:HEAT_2	88	157	3.7e-8	PFAM
Pfam:Cnd1	99	268	2.1e-40	PFAM
Pfam:HEAT_2	124	219	1.4e-9	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	950	9.93e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065692
AA Change: V923A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: V923A

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	4.2e-173	PFAM
Pfam:HEAT_2	88	157	2.7e-8	PFAM
Pfam:Cnd1	99	268	1.5e-37	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
Alpha_adaptinC2	707	817	2.94e-18	SMART
B2-adapt-app_C	826	936	9.93e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176430

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	4e-173	PFAM
Pfam:HEAT_2	88	157	2.8e-8	PFAM
Pfam:Cnd1	99	268	1.5e-37	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	936	7.22e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176523
AA Change: V899A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: V899A

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	95	1.1e-26	PFAM
Pfam:Cnd1	69	230	1.5e-26	PFAM
Pfam:HEAT_2	85	182	5.1e-9	PFAM
Pfam:Adaptin_N	90	496	4e-125	PFAM
low complexity region	587	605	N/A	INTRINSIC
low complexity region	616	637	N/A	INTRINSIC
Alpha_adaptinC2	683	793	2.94e-18	SMART
B2-adapt-app_C	802	912	9.93e-56	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	C	A	12: 55,382,257	H538N	probably benign	Het
2410131K14Rik	C	T	5: 118,255,815	T86I	possibly damaging	Het
Abca1	T	C	4: 53,092,918	T289A	probably benign	Het
Adnp	A	T	2: 168,182,743	S877R	probably benign	Het
Akap13	T	A	7: 75,736,342	H555Q	probably benign	Het
Alg6	T	A	4: 99,726,894	Y38*	probably null	Het
Amtn	C	A	5: 88,380,346	Q93K	probably benign	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,486,237		probably benign	Het
Bhmt	A	G	13: 93,621,571	S211P	possibly damaging	Het
Bmp1	T	C	14: 70,477,866	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Cbfb	A	C	8: 105,178,611	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,167,381	F249L	probably damaging	Het
Cdh26	T	A	2: 178,470,190	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,718,537	E352G		Het
Cep295nl	G	A	11: 118,333,940	P26L	possibly damaging	Het
Cfdp1	A	G	8: 111,845,175	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,988,792	I846F	probably damaging	Het
Cntrl	A	G	2: 35,160,266	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,506,250	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,849,720	S778R		Het
Daam2	C	T	17: 49,473,304	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,561,403	H305R	probably damaging	Het
Dio1	C	T	4: 107,292,361	C248Y	probably benign	Het
Dnah1	C	A	14: 31,294,815	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,479,350	D319E	probably benign	Het
Fam171b	G	A	2: 83,812,765	R6H	probably damaging	Het
Fam214a	A	G	9: 75,010,230	N711D	possibly damaging	Het
Flnb	G	A	14: 7,926,421	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,122,020	V303I	possibly damaging	Het
Gli3	T	G	13: 15,726,668	S1547A	probably benign	Het
Gm4884	A	T	7: 41,043,687	N360I	possibly damaging	Het
Gm9573	T	A	17: 35,621,828	T489S	unknown	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Ino80	C	G	2: 119,450,015	K289N	probably damaging	Het
Itpr1	G	A	6: 108,416,909	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,117,468	I45F	unknown	Het
Kif1a	G	A	1: 93,055,723	P684L	probably benign	Het
Kpnb1	A	T	11: 97,167,634	S610T	probably benign	Het
Man1a2	A	G	3: 100,684,645	V73A	probably benign	Het
Mbtps1	A	G	8: 119,508,882	V1019A	possibly damaging	Het
Nup210	G	C	6: 91,017,393	N1774K	probably benign	Het
Olfr763	G	T	10: 129,011,890	V202F	probably benign	Het
Pik3c2b	T	C	1: 133,071,607	S398P	probably damaging	Het
Pmpca	A	G	2: 26,389,976	T37A	probably benign	Het
Ppfia1	A	G	7: 144,498,779	S840P	probably damaging	Het
Prkcq	A	T	2: 11,256,203	K355N	probably benign	Het
Ptprg	A	G	14: 12,237,809	K1422R	probably benign	Het
Ptprq	T	C	10: 107,542,662	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,795,389		probably null	Het
Rcor2	A	T	19: 7,274,226	T412S	probably benign	Het
Rnf224	A	T	2: 25,236,188	M51K	probably benign	Het
Robo4	A	G	9: 37,406,213	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,176,799	S360T	unknown	Het
Sgo2b	T	C	8: 63,927,617	D727G	probably damaging	Het
Smpd2	C	A	10: 41,488,287	V172L	probably benign	Het
Syne1	C	T	10: 5,323,887	A1966T	probably benign	Het
Syt13	G	A	2: 92,915,230	G15D	possibly damaging	Het
Taf3	A	T	2: 9,918,259	L18Q	unknown	Het
Tcam1	T	A	11: 106,285,433	N328K	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tet2	A	T	3: 133,488,006	Y222*	probably null	Het
Timm29	A	T	9: 21,592,922		probably benign	Het
Tmc6	T	C	11: 117,779,169	D17G	probably benign	Het
Tmem30a	T	A	9: 79,780,644	D81V	probably benign	Het
Tnnt1	T	C	7: 4,508,502	I195V	probably benign	Het
Ttc30b	T	C	2: 75,937,800	Y203C	probably damaging	Het
Ttll5	T	A	12: 85,892,122	V398E	possibly damaging	Het
Ttn	T	C	2: 76,918,097	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,387,447	I272T	probably damaging	Het
Uhrf1bp1	T	A	17: 27,886,779	S760T	probably benign	Het
Unc45a	A	G	7: 80,334,037	L337P	probably damaging	Het
Vmn1r229	T	C	17: 20,815,053	F187L	probably benign	Het
Wrn	A	T	8: 33,324,273	M381K	probably benign	Het
Zdbf2	A	G	1: 63,303,476	N338S	possibly damaging	Het
Zfp541	A	G	7: 16,071,967	E9G	possibly damaging	Het
Zrsr1	G	A	11: 22,973,418	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,722,163	S1614T	probably benign	Het

Other mutations in Ap2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Ap2b1	APN	11	83333158	missense	probably damaging	0.99
IGL01583:Ap2b1	APN	11	83324611	missense	possibly damaging	0.61
IGL01753:Ap2b1	APN	11	83321973	missense	probably damaging	1.00
IGL01992:Ap2b1	APN	11	83335530	missense	probably damaging	1.00
IGL02192:Ap2b1	APN	11	83346766	missense	possibly damaging	0.48
IGL02315:Ap2b1	APN	11	83336799	missense	probably damaging	0.96
IGL03235:Ap2b1	APN	11	83341384	missense	probably benign	0.41
P0045:Ap2b1	UTSW	11	83368026	missense	probably damaging	1.00
R0121:Ap2b1	UTSW	11	83321967	missense	possibly damaging	0.66
R0334:Ap2b1	UTSW	11	83367874	splice site	probably benign
R1222:Ap2b1	UTSW	11	83346738	missense	probably benign	0.06
R1297:Ap2b1	UTSW	11	83333109	missense	probably damaging	1.00
R1653:Ap2b1	UTSW	11	83346831	missense	probably damaging	1.00
R1719:Ap2b1	UTSW	11	83324604	missense	probably damaging	1.00
R1885:Ap2b1	UTSW	11	83390735	missense	probably damaging	0.99
R1886:Ap2b1	UTSW	11	83390735	missense	probably damaging	0.99
R1965:Ap2b1	UTSW	11	83346895	missense	probably benign	0.00
R1966:Ap2b1	UTSW	11	83346895	missense	probably benign	0.00
R2046:Ap2b1	UTSW	11	83336386	missense	probably benign	0.14
R2086:Ap2b1	UTSW	11	83351118	missense	possibly damaging	0.88
R2132:Ap2b1	UTSW	11	83324761	splice site	probably benign
R3615:Ap2b1	UTSW	11	83324565	missense	possibly damaging	0.84
R3616:Ap2b1	UTSW	11	83324565	missense	possibly damaging	0.84
R3983:Ap2b1	UTSW	11	83390716	missense	probably damaging	1.00
R4124:Ap2b1	UTSW	11	83365645	critical splice acceptor site	probably null
R4125:Ap2b1	UTSW	11	83365645	critical splice acceptor site	probably null
R4198:Ap2b1	UTSW	11	83342603	missense	probably damaging	1.00
R4202:Ap2b1	UTSW	11	83335604	critical splice donor site	probably null
R4543:Ap2b1	UTSW	11	83324650	missense	probably damaging	1.00
R4583:Ap2b1	UTSW	11	83397779	missense	probably benign	0.00
R4589:Ap2b1	UTSW	11	83333011	nonsense	probably null
R4916:Ap2b1	UTSW	11	83390706	missense	probably damaging	1.00
R5005:Ap2b1	UTSW	11	83339392	missense	probably damaging	1.00
R5385:Ap2b1	UTSW	11	83342601	missense	probably damaging	1.00
R5510:Ap2b1	UTSW	11	83336737	splice site	probably null
R5738:Ap2b1	UTSW	11	83336430	splice site	probably null
R6023:Ap2b1	UTSW	11	83335398	missense	probably damaging	0.99
R6269:Ap2b1	UTSW	11	83346673	missense	probably damaging	1.00
R6383:Ap2b1	UTSW	11	83346825	missense	probably damaging	1.00
R6416:Ap2b1	UTSW	11	83308239	start codon destroyed	probably null	1.00
R6502:Ap2b1	UTSW	11	83342679	missense	probably damaging	0.97
R6810:Ap2b1	UTSW	11	83335491	missense	possibly damaging	0.89
R6969:Ap2b1	UTSW	11	83389726	missense	probably damaging	0.99
R7238:Ap2b1	UTSW	11	83333122	missense	possibly damaging	0.91
R7241:Ap2b1	UTSW	11	83351105	missense	probably benign	0.16
R7429:Ap2b1	UTSW	11	83367998	missense	probably benign	0.00
R7588:Ap2b1	UTSW	11	83324522	missense	probably benign	0.00
R7635:Ap2b1	UTSW	11	83389728	missense	probably benign	0.09
R7651:Ap2b1	UTSW	11	83339430	critical splice donor site	probably null
R7753:Ap2b1	UTSW	11	83367907	nonsense	probably null
R8468:Ap2b1	UTSW	11	83351065	missense	probably damaging	1.00
R8943:Ap2b1	UTSW	11	83346753	missense	probably damaging	1.00
R9093:Ap2b1	UTSW	11	83324569	missense	probably damaging	1.00
X0064:Ap2b1	UTSW	11	83324569	missense	probably damaging	1.00
Z1177:Ap2b1	UTSW	11	83365753	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAAGCTGGAGTTCTGAAATCC -3'
(R):5'- CCTATCCAACAGGGTGAATGC -3'

Sequencing Primer
(F):5'- CTGGAGTTCTGAAATCCATGGTTTG -3'
(R):5'- CCTATCCAACAGGGTGAATGCTAATG -3'

Posted On

2022-09-12