Mutagenetix > Incidental Mutation

Incidental Mutation 'R7238:Ap2b1'

563015

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

045345-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83189850-83295861 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83223948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 221 (F221C)

Ref Sequence

ENSEMBL: ENSMUSP00000018875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523] [ENSMUST00000176944]

AlphaFold

Q9DBG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018875
AA Change: F221C

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: F221C

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: F221C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: F221C

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 damaging
Transcript: ENSMUST00000176430
AA Change: F221C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: F221C

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: F183C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: F183C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176944

SMART Domains

Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	199	3.4e-67	PFAM
Pfam:DNA_alkylation	18	196	4.6e-8	PFAM
Pfam:HEAT_2	88	185	3.1e-13	PFAM
Pfam:Cnd1	99	198	4.2e-27	PFAM
Pfam:HEAT	122	151	1.4e-5	PFAM

Meta Mutation Damage Score

0.2772

Coding Region Coverage

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

Validation Efficiency

97% (104/107)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,775,712 (GRCm39)	T1634S	probably damaging	Het
Adgrl1	T	A	8: 84,665,693 (GRCm39)	M1460K	probably damaging	Het
Adig	T	A	2: 158,347,773 (GRCm39)	L29Q	unknown	Het
Adnp	T	G	2: 168,025,887 (GRCm39)	K469N	probably damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Albfm1	A	T	5: 90,727,519 (GRCm39)	Y379F	probably damaging	Het
Ankrd34b	T	C	13: 92,575,139 (GRCm39)	Y124H	possibly damaging	Het
Atp2c2	A	G	8: 120,469,160 (GRCm39)	I358V	possibly damaging	Het
BC051665	G	A	13: 60,930,536 (GRCm39)	T272I	probably benign	Het
Cdan1	G	T	2: 120,560,783 (GRCm39)	A262E	probably benign	Het
Ces1d	C	T	8: 93,904,763 (GRCm39)	V326I	probably benign	Het
Chd3	T	C	11: 69,254,873 (GRCm39)	R156G	probably benign	Het
Clip1	C	T	5: 123,751,328 (GRCm39)	E818K		Het
Col6a4	C	T	9: 105,877,519 (GRCm39)	V2153M	probably damaging	Het
Crlf3	T	C	11: 79,947,351 (GRCm39)	N296D	possibly damaging	Het
Cstdc6	C	T	16: 36,142,193 (GRCm39)	G61D	probably benign	Het
D130052B06Rik	A	G	11: 33,573,594 (GRCm39)	I109V	probably benign	Het
Dcaf5	G	T	12: 80,385,483 (GRCm39)	T881K	probably benign	Het
Dennd4a	C	A	9: 64,769,238 (GRCm39)	T408K	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah2	A	G	11: 69,349,972 (GRCm39)		probably null	Het
Eif1ad8	A	T	12: 87,564,006 (GRCm39)	K114*	probably null	Het
Eif2ak2	C	T	17: 79,173,760 (GRCm39)	V273I	probably benign	Het
Elac1	C	T	18: 73,872,359 (GRCm39)	G212D	probably damaging	Het
Ercc6l2	A	G	13: 64,013,798 (GRCm39)	D623G	probably damaging	Het
Exo1	T	C	1: 175,716,413 (GRCm39)	F177L	probably damaging	Het
Fat4	A	G	3: 38,944,562 (GRCm39)	T1152A	probably benign	Het
Fbxl12	G	T	9: 20,529,709 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,151,971 (GRCm39)	Y582C	probably damaging	Het
Fsip2	T	A	2: 82,812,484 (GRCm39)	N2934K	possibly damaging	Het
Gna12	A	G	5: 140,815,847 (GRCm39)	S69P	probably damaging	Het
Gpatch8	C	A	11: 102,369,354 (GRCm39)	G1395C	probably damaging	Het
Gpr137c	A	G	14: 45,516,148 (GRCm39)	Y294C	probably damaging	Het
Greb1	A	G	12: 16,724,673 (GRCm39)	S1834P	probably damaging	Het
Grin2b	T	C	6: 135,757,249 (GRCm39)	D404G	probably damaging	Het
Hectd2	A	T	19: 36,574,478 (GRCm39)	N236I	probably damaging	Het
Hhip	C	T	8: 80,713,641 (GRCm39)	V562I	probably benign	Het
Hipk2	G	T	6: 38,692,992 (GRCm39)	T867N	probably benign	Het
Hmgcl	T	C	4: 135,689,424 (GRCm39)	V294A	possibly damaging	Het
Hnrnpl	T	A	7: 28,513,400 (GRCm39)	F158I		Het
Hspa5	T	C	2: 34,662,383 (GRCm39)	V17A	unknown	Het
Hspg2	T	C	4: 137,235,704 (GRCm39)	V168A	probably damaging	Het
Idh1	A	G	1: 65,205,284 (GRCm39)	F227S	probably damaging	Het
Iigp1c	A	G	18: 60,379,355 (GRCm39)	S297G	possibly damaging	Het
Immp2l	T	C	12: 41,160,915 (GRCm39)	V71A	possibly damaging	Het
Iqce	G	A	5: 140,675,713 (GRCm39)	R193*	probably null	Het
Kcnq5	T	C	1: 21,472,526 (GRCm39)	D907G	probably benign	Het
Krt17	T	A	11: 100,148,613 (GRCm39)	T306S	probably benign	Het
Lhx3	T	C	2: 26,093,009 (GRCm39)	D149G	probably damaging	Het
Lrrc73	G	A	17: 46,565,488 (GRCm39)	R73H	probably damaging	Het
Mgat5b	T	C	11: 116,875,809 (GRCm39)	S678P	probably benign	Het
Mink1	T	C	11: 70,502,305 (GRCm39)		probably null	Het
Mroh5	T	G	15: 73,663,278 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,363,254 (GRCm39)	H2188Q	unknown	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Musk	G	A	4: 58,344,312 (GRCm39)	G305D	probably benign	Het
Mx1	A	G	16: 97,249,496 (GRCm39)	I347T	unknown	Het
Mybbp1a	G	T	11: 72,334,338 (GRCm39)	V198F	probably damaging	Het
Mycbp2	A	G	14: 103,393,733 (GRCm39)	S2943P	probably damaging	Het
Myo18a	G	A	11: 77,733,059 (GRCm39)	R1363K	probably damaging	Het
Nav3	T	A	10: 109,689,185 (GRCm39)	D364V	possibly damaging	Het
Or13g1	T	C	7: 85,955,799 (GRCm39)	H174R	probably damaging	Het
Or14j6	T	C	17: 38,215,328 (GRCm39)	L297S	probably benign	Het
Or1e26	A	T	11: 73,480,561 (GRCm39)	M1K	probably null	Het
Or1j13	T	A	2: 36,369,726 (GRCm39)	N139Y	possibly damaging	Het
Or5k15	T	A	16: 58,710,252 (GRCm39)	E110D	probably damaging	Het
Pecr	T	C	1: 72,298,592 (GRCm39)	D276G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1cb	A	T	5: 32,648,376 (GRCm39)	T320S	probably benign	Het
Ppp1r9a	G	T	6: 5,159,716 (GRCm39)	K1084N	probably damaging	Het
Prdm2	A	G	4: 142,862,391 (GRCm39)	S300P	probably benign	Het
Prkg1	C	T	19: 30,602,090 (GRCm39)	V389I	probably damaging	Het
Psg25	C	T	7: 18,266,127 (GRCm39)		probably benign	Het
Ptpn6	A	G	6: 124,698,821 (GRCm39)	S498P	possibly damaging	Het
Pus3	A	G	9: 35,477,965 (GRCm39)	H399R	probably benign	Het
Pus7	T	C	5: 23,983,450 (GRCm39)	T6A	probably benign	Het
Rnf169	A	G	7: 99,574,954 (GRCm39)	V547A	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,128 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,794,807 (GRCm39)	D1194N	probably benign	Het
Scn5a	T	C	9: 119,320,610 (GRCm39)	M1490V	possibly damaging	Het
Sec23b	A	G	2: 144,432,258 (GRCm39)	D756G	possibly damaging	Het
Selenoo	T	A	15: 88,973,427 (GRCm39)	M39K	probably benign	Het
Septin8	T	G	11: 53,427,519 (GRCm39)	V246G	possibly damaging	Het
Serpina3k	T	A	12: 104,309,367 (GRCm39)	N270K	probably damaging	Het
Setd5	G	A	6: 113,098,091 (GRCm39)	R710H	probably damaging	Het
Sirt4	A	T	5: 115,621,049 (GRCm39)	I41N	possibly damaging	Het
Slc26a9	T	A	1: 131,686,556 (GRCm39)	Y425*	probably null	Het
Slc4a9	A	G	18: 36,662,773 (GRCm39)	E176G	probably benign	Het
Speer1m	T	C	5: 11,970,712 (GRCm39)	I127T		Het
Spidr	A	T	16: 15,784,680 (GRCm39)	W463R	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmcc1	G	A	6: 116,111,198 (GRCm39)	Q28*	probably null	Het
Tmem52b	A	G	6: 129,493,651 (GRCm39)	E88G	probably damaging	Het
Trpc7	A	T	13: 56,974,710 (GRCm39)	I402K	probably benign	Het
Tshz3	T	C	7: 36,469,522 (GRCm39)	Y504H	probably damaging	Het
Ttn	T	C	2: 76,542,549 (GRCm39)	E33479G	possibly damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Urb1	T	C	16: 90,549,003 (GRCm39)	D2235G	possibly damaging	Het
Usp10	T	C	8: 120,668,283 (GRCm39)	F195L	probably benign	Het
Vmn1r31	A	T	6: 58,449,858 (GRCm39)	F2L		Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r12	G	A	5: 109,245,655 (GRCm39)	P26S	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,629 (GRCm39)	M414K	possibly damaging	Het
Yipf3	T	C	17: 46,562,585 (GRCm39)	V330A	probably benign	Het
Zic4	A	T	9: 91,261,450 (GRCm39)	H235L	probably benign	Het
Zxdc	T	A	6: 90,346,642 (GRCm39)	W16R	unknown	Het

Other mutations in Ap2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Ap2b1	APN	11	83,223,984 (GRCm39)	missense	probably damaging	0.99
IGL01583:Ap2b1	APN	11	83,215,437 (GRCm39)	missense	possibly damaging	0.61
IGL01753:Ap2b1	APN	11	83,212,799 (GRCm39)	missense	probably damaging	1.00
IGL01992:Ap2b1	APN	11	83,226,356 (GRCm39)	missense	probably damaging	1.00
IGL02192:Ap2b1	APN	11	83,237,592 (GRCm39)	missense	possibly damaging	0.48
IGL02315:Ap2b1	APN	11	83,227,625 (GRCm39)	missense	probably damaging	0.96
IGL03235:Ap2b1	APN	11	83,232,210 (GRCm39)	missense	probably benign	0.41
P0045:Ap2b1	UTSW	11	83,258,852 (GRCm39)	missense	probably damaging	1.00
R0121:Ap2b1	UTSW	11	83,212,793 (GRCm39)	missense	possibly damaging	0.66
R0334:Ap2b1	UTSW	11	83,258,700 (GRCm39)	splice site	probably benign
R1222:Ap2b1	UTSW	11	83,237,564 (GRCm39)	missense	probably benign	0.06
R1297:Ap2b1	UTSW	11	83,223,935 (GRCm39)	missense	probably damaging	1.00
R1653:Ap2b1	UTSW	11	83,237,657 (GRCm39)	missense	probably damaging	1.00
R1719:Ap2b1	UTSW	11	83,215,430 (GRCm39)	missense	probably damaging	1.00
R1885:Ap2b1	UTSW	11	83,281,561 (GRCm39)	missense	probably damaging	0.99
R1886:Ap2b1	UTSW	11	83,281,561 (GRCm39)	missense	probably damaging	0.99
R1965:Ap2b1	UTSW	11	83,237,721 (GRCm39)	missense	probably benign	0.00
R1966:Ap2b1	UTSW	11	83,237,721 (GRCm39)	missense	probably benign	0.00
R2046:Ap2b1	UTSW	11	83,227,212 (GRCm39)	missense	probably benign	0.14
R2086:Ap2b1	UTSW	11	83,241,944 (GRCm39)	missense	possibly damaging	0.88
R2132:Ap2b1	UTSW	11	83,215,587 (GRCm39)	splice site	probably benign
R3615:Ap2b1	UTSW	11	83,215,391 (GRCm39)	missense	possibly damaging	0.84
R3616:Ap2b1	UTSW	11	83,215,391 (GRCm39)	missense	possibly damaging	0.84
R3983:Ap2b1	UTSW	11	83,281,542 (GRCm39)	missense	probably damaging	1.00
R4124:Ap2b1	UTSW	11	83,256,471 (GRCm39)	critical splice acceptor site	probably null
R4125:Ap2b1	UTSW	11	83,256,471 (GRCm39)	critical splice acceptor site	probably null
R4198:Ap2b1	UTSW	11	83,233,429 (GRCm39)	missense	probably damaging	1.00
R4202:Ap2b1	UTSW	11	83,226,430 (GRCm39)	critical splice donor site	probably null
R4543:Ap2b1	UTSW	11	83,215,476 (GRCm39)	missense	probably damaging	1.00
R4583:Ap2b1	UTSW	11	83,288,605 (GRCm39)	missense	probably benign	0.00
R4589:Ap2b1	UTSW	11	83,223,837 (GRCm39)	nonsense	probably null
R4916:Ap2b1	UTSW	11	83,281,532 (GRCm39)	missense	probably damaging	1.00
R5005:Ap2b1	UTSW	11	83,230,218 (GRCm39)	missense	probably damaging	1.00
R5385:Ap2b1	UTSW	11	83,233,427 (GRCm39)	missense	probably damaging	1.00
R5510:Ap2b1	UTSW	11	83,227,563 (GRCm39)	splice site	probably null
R5738:Ap2b1	UTSW	11	83,227,256 (GRCm39)	splice site	probably null
R6023:Ap2b1	UTSW	11	83,226,224 (GRCm39)	missense	probably damaging	0.99
R6269:Ap2b1	UTSW	11	83,237,499 (GRCm39)	missense	probably damaging	1.00
R6383:Ap2b1	UTSW	11	83,237,651 (GRCm39)	missense	probably damaging	1.00
R6416:Ap2b1	UTSW	11	83,199,065 (GRCm39)	start codon destroyed	probably null	1.00
R6502:Ap2b1	UTSW	11	83,233,505 (GRCm39)	missense	probably damaging	0.97
R6810:Ap2b1	UTSW	11	83,226,317 (GRCm39)	missense	possibly damaging	0.89
R6969:Ap2b1	UTSW	11	83,280,552 (GRCm39)	missense	probably damaging	0.99
R7241:Ap2b1	UTSW	11	83,241,931 (GRCm39)	missense	probably benign	0.16
R7429:Ap2b1	UTSW	11	83,258,824 (GRCm39)	missense	probably benign	0.00
R7588:Ap2b1	UTSW	11	83,215,348 (GRCm39)	missense	probably benign	0.00
R7635:Ap2b1	UTSW	11	83,280,554 (GRCm39)	missense	probably benign	0.09
R7651:Ap2b1	UTSW	11	83,230,256 (GRCm39)	critical splice donor site	probably null
R7753:Ap2b1	UTSW	11	83,258,733 (GRCm39)	nonsense	probably null
R8468:Ap2b1	UTSW	11	83,241,891 (GRCm39)	missense	probably damaging	1.00
R8943:Ap2b1	UTSW	11	83,237,579 (GRCm39)	missense	probably damaging	1.00
R9093:Ap2b1	UTSW	11	83,215,395 (GRCm39)	missense	probably damaging	1.00
R9621:Ap2b1	UTSW	11	83,293,424 (GRCm39)	missense	probably damaging	1.00
X0064:Ap2b1	UTSW	11	83,215,395 (GRCm39)	missense	probably damaging	1.00
Z1177:Ap2b1	UTSW	11	83,256,579 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTGATCCTAGAAGACGGTTTG -3'
(R):5'- ACGCTAGGGATAGCAATGTC -3'

Sequencing Primer
(F):5'- ATCCTAGAAGACGGTTTGTGTGTCAG -3'
(R):5'- GGGATAGCAATGTCCCCCTAAG -3'

Posted On

2019-06-26