Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Cdh24'

617851

Institutional Source

Beutler Lab

Gene Symbol

Cdh24

Ensembl Gene

ENSMUSG00000059674

Gene Name

cadherin-like 24

Synonyms

EY-cadherin, ENSMUSG00000022188, cadherin 14-like, 1700040A22Rik

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54868688-54878821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54876856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 49 (N49I)

Ref Sequence

ENSEMBL: ENSMUSP00000066005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000148754] [ENSMUST00000150371] [ENSMUST00000167015] [ENSMUST00000169818] [ENSMUST00000227124]

AlphaFold

Q6PFX6

Predicted Effect

probably benign
Transcript: ENSMUST00000022793

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	175	N/A	INTRINSIC
low complexity region	205	220	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	414	423	N/A	INTRINSIC
low complexity region	573	603	N/A	INTRINSIC
low complexity region	631	662	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC
low complexity region	760	773	N/A	INTRINSIC
low complexity region	778	792	N/A	INTRINSIC
low complexity region	803	813	N/A	INTRINSIC
internal_repeat_1	817	892	1.63e-6	PROSPERO
low complexity region	927	952	N/A	INTRINSIC
RRM	1012	1081	8.3e-2	SMART
Pfam:RSB_motif	1139	1246	5.7e-30	PFAM
low complexity region	1275	1329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022794

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	169	194	N/A	INTRINSIC
RRM	254	323	8.3e-2	SMART
low complexity region	355	405	N/A	INTRINSIC
low complexity region	412	450	N/A	INTRINSIC
PDB:4A8X\|B	451	475	4e-6	PDB
low complexity region	477	512	N/A	INTRINSIC
low complexity region	517	571	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000067784
AA Change: N49I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: N49I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	148	7.85e-18	SMART
CA	172	257	3.23e-28	SMART
CA	281	369	4.24e-14	SMART
CA	396	477	1.48e-22	SMART
Blast:CA	500	581	3e-31	BLAST
transmembrane domain	602	624	N/A	INTRINSIC
Pfam:Cadherin_C	627	775	2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111484

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126166

SMART Domains

Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	154	179	N/A	INTRINSIC
RRM	239	308	8.3e-2	SMART
low complexity region	340	390	N/A	INTRINSIC
low complexity region	397	435	N/A	INTRINSIC
PDB:4A8X\|B	436	460	4e-6	PDB
low complexity region	462	497	N/A	INTRINSIC
low complexity region	502	556	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138321

SMART Domains

Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
Pfam:RSB_motif	20	128	4.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141453

SMART Domains

Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	141	166	N/A	INTRINSIC
RRM	226	295	8.3e-2	SMART
low complexity region	327	377	N/A	INTRINSIC
low complexity region	384	422	N/A	INTRINSIC
PDB:4A8X\|B	423	447	4e-6	PDB
low complexity region	449	484	N/A	INTRINSIC
low complexity region	489	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147714

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	18	52	1.29e-8	SMART
coiled coil region	83	120	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
coiled coil region	204	245	N/A	INTRINSIC
low complexity region	324	342	N/A	INTRINSIC
low complexity region	360	369	N/A	INTRINSIC
low complexity region	519	549	N/A	INTRINSIC
low complexity region	577	608	N/A	INTRINSIC
low complexity region	680	689	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	749	759	N/A	INTRINSIC
low complexity region	861	886	N/A	INTRINSIC
RRM	946	1015	8.3e-2	SMART
Pfam:RSB_motif	1065	1180	1.1e-29	PFAM
low complexity region	1209	1263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148754

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150371

SMART Domains

Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
low complexity region	223	248	N/A	INTRINSIC
RRM	308	377	8.3e-2	SMART
low complexity region	409	459	N/A	INTRINSIC
low complexity region	466	504	N/A	INTRINSIC
PDB:4A8X\|B	505	529	3e-6	PDB
low complexity region	531	566	N/A	INTRINSIC
low complexity region	571	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167015

SMART Domains

Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169818

SMART Domains

Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

Domain	Start	End	E-Value	Type
low complexity region	1	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000227124

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably damaging	Het

Other mutations in Cdh24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Cdh24	APN	14	54,875,889 (GRCm39)	missense	probably benign	0.01
IGL02597:Cdh24	APN	14	54,870,972 (GRCm39)	missense	possibly damaging	0.55
R0088:Cdh24	UTSW	14	54,871,171 (GRCm39)	missense	probably damaging	1.00
R0480:Cdh24	UTSW	14	54,870,054 (GRCm39)	missense	probably benign	0.38
R0890:Cdh24	UTSW	14	54,870,051 (GRCm39)	missense	probably benign	0.00
R1525:Cdh24	UTSW	14	54,876,046 (GRCm39)	missense	probably damaging	1.00
R1591:Cdh24	UTSW	14	54,873,799 (GRCm39)	missense	probably benign	0.19
R1727:Cdh24	UTSW	14	54,876,095 (GRCm39)	nonsense	probably null
R3757:Cdh24	UTSW	14	54,869,637 (GRCm39)	missense	possibly damaging	0.92
R4786:Cdh24	UTSW	14	54,875,007 (GRCm39)	missense	possibly damaging	0.65
R4921:Cdh24	UTSW	14	54,870,672 (GRCm39)	missense	probably damaging	1.00
R4929:Cdh24	UTSW	14	54,870,973 (GRCm39)	missense	probably benign	0.00
R5116:Cdh24	UTSW	14	54,873,870 (GRCm39)	missense	probably benign	0.34
R5589:Cdh24	UTSW	14	54,874,832 (GRCm39)	missense	probably damaging	1.00
R5682:Cdh24	UTSW	14	54,874,805 (GRCm39)	missense	probably damaging	1.00
R5774:Cdh24	UTSW	14	54,876,514 (GRCm39)	missense	probably damaging	0.99
R6305:Cdh24	UTSW	14	54,869,813 (GRCm39)	missense	possibly damaging	0.62
R7090:Cdh24	UTSW	14	54,876,964 (GRCm39)	missense	probably damaging	1.00
R7186:Cdh24	UTSW	14	54,870,949 (GRCm39)	missense	probably benign	0.03
R7361:Cdh24	UTSW	14	54,876,378 (GRCm39)	missense	possibly damaging	0.74
R7488:Cdh24	UTSW	14	54,869,637 (GRCm39)	missense	possibly damaging	0.92
R7623:Cdh24	UTSW	14	54,875,547 (GRCm39)	missense	probably damaging	1.00
R7823:Cdh24	UTSW	14	54,874,875 (GRCm39)	missense	probably damaging	1.00
R7973:Cdh24	UTSW	14	54,876,477 (GRCm39)	missense	possibly damaging	0.87
R8017:Cdh24	UTSW	14	54,876,089 (GRCm39)	missense	probably damaging	1.00
R8019:Cdh24	UTSW	14	54,876,089 (GRCm39)	missense	probably damaging	1.00
R8070:Cdh24	UTSW	14	54,870,030 (GRCm39)	missense	probably benign
R8160:Cdh24	UTSW	14	54,875,946 (GRCm39)	missense	probably damaging	0.99
R8692:Cdh24	UTSW	14	54,875,793 (GRCm39)	missense	probably benign	0.29
R8862:Cdh24	UTSW	14	54,869,874 (GRCm39)	missense	probably damaging	1.00
R8915:Cdh24	UTSW	14	54,876,612 (GRCm39)	missense	probably damaging	1.00
R9161:Cdh24	UTSW	14	54,876,097 (GRCm39)	missense	probably damaging	1.00
R9212:Cdh24	UTSW	14	54,878,679 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCTCCAAGTGCAGAGC -3'
(R):5'- ATCCATGGGGTAGCCTCAAC -3'

Sequencing Primer
(F):5'- CACACGGGGTTAGAGCCTAG -3'
(R):5'- GGTAGCCTCAACGCGTCTTC -3'

Posted On

2020-01-23