Mutagenetix > Incidental Mutation

Incidental Mutation 'R5589:Cdh24'

437378

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

043142-MU

Accession Numbers

Essential gene?

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

Stock #

R5589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54868688-54878821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54874832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 391 (T391N)

Ref Sequence

ENSEMBL: ENSMUSP00000066005 (fasta)

Gene Model

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

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: T391N

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

SMART Domains

Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: T391N

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: 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: 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 damaging
Transcript: ENSMUST00000227124
AA Change: T56N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,066 (GRCm39)	M76L	probably benign	Het
Adrm1b	T	A	3: 92,336,112 (GRCm39)		probably benign	Het
Alg1	T	A	16: 5,053,086 (GRCm39)	W116R	probably benign	Het
Ano3	A	T	2: 110,715,340 (GRCm39)	S33T	probably damaging	Het
Atp2b2	T	C	6: 113,751,400 (GRCm39)	E556G	possibly damaging	Het
Brca2	T	A	5: 150,480,597 (GRCm39)	I2761K	possibly damaging	Het
Ccdc68	G	A	18: 70,079,577 (GRCm39)	G141E	probably benign	Het
Cckbr	T	C	7: 105,083,732 (GRCm39)	V220A	probably damaging	Het
Ccnd3	G	A	17: 47,909,544 (GRCm39)	R45Q	probably damaging	Het
Cldn11	A	G	3: 31,204,395 (GRCm39)	T33A	probably damaging	Het
Clec2e	T	A	6: 129,075,391 (GRCm39)	Y50F	probably benign	Het
Cntnap1	A	G	11: 101,075,944 (GRCm39)	N943D	probably benign	Het
Cspg4b	A	G	13: 113,454,484 (GRCm39)	R177G	possibly damaging	Het
Dmgdh	T	C	13: 93,813,665 (GRCm39)	V70A	probably damaging	Het
Gm14496	C	A	2: 181,637,674 (GRCm39)	Y249*	probably null	Het
Gmnc	T	A	16: 26,781,714 (GRCm39)	H105L	probably damaging	Het
Gpt2	A	G	8: 86,219,740 (GRCm39)	Y62C	probably damaging	Het
Ift80	T	C	3: 68,838,233 (GRCm39)	R413G	probably damaging	Het
Kctd16	C	A	18: 40,392,061 (GRCm39)	D216E	probably damaging	Het
Kif26b	T	C	1: 178,743,864 (GRCm39)	V873A	probably benign	Het
Klra4	G	T	6: 130,039,117 (GRCm39)	Q92K	probably benign	Het
L1td1	C	A	4: 98,626,341 (GRCm39)	N845K	possibly damaging	Het
Lama3	C	T	18: 12,605,277 (GRCm39)	T1077I	possibly damaging	Het
Loxhd1	T	C	18: 77,429,751 (GRCm39)	I230T	possibly damaging	Het
Lsg1	T	C	16: 30,399,819 (GRCm39)	N160S	probably damaging	Het
Lyzl4	G	A	9: 121,413,469 (GRCm39)	R24C	probably damaging	Het
Mib1	A	G	18: 10,794,488 (GRCm39)	N658S	probably benign	Het
Mmp8	T	C	9: 7,566,275 (GRCm39)	I377T	probably damaging	Het
Mtmr14	T	C	6: 113,238,243 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,548,414 (GRCm39)	T58A	possibly damaging	Het
Myo9a	C	T	9: 59,802,527 (GRCm39)	Q2005*	probably null	Het
Neu3	G	T	7: 99,472,636 (GRCm39)	P34T	probably benign	Het
Nlrp4b	G	A	7: 10,449,512 (GRCm39)	V205I	probably benign	Het
Or4b1b	C	T	2: 90,112,313 (GRCm39)	G202D	probably damaging	Het
Or4k38	T	C	2: 111,165,850 (GRCm39)	N191S	possibly damaging	Het
Or5h23	A	T	16: 58,906,334 (GRCm39)	S171T	probably benign	Het
Or5t15	A	G	2: 86,681,118 (GRCm39)	I308T	unknown	Het
Or6c66	T	G	10: 129,461,319 (GRCm39)	T204P	probably damaging	Het
Or9m1	T	C	2: 87,733,691 (GRCm39)	T110A	probably benign	Het
Pcsk6	T	C	7: 65,578,933 (GRCm39)		probably null	Het
Pik3c2a	A	G	7: 116,016,893 (GRCm39)	V288A	probably benign	Het
Plcd3	T	C	11: 102,968,629 (GRCm39)	D354G	probably benign	Het
Prkdc	C	A	16: 15,524,655 (GRCm39)	N1219K	probably benign	Het
Prl3d1	T	A	13: 27,278,927 (GRCm39)	Y41N	probably damaging	Het
Qrich2	C	T	11: 116,332,234 (GRCm39)	G2321R	probably damaging	Het
Rrbp1	T	C	2: 143,831,886 (GRCm39)	I94V	probably benign	Het
Serinc1	C	A	10: 57,399,262 (GRCm39)	V214L	probably benign	Het
Serpina9	G	T	12: 103,967,728 (GRCm39)	N222K	probably benign	Het
Smchd1	A	G	17: 71,747,956 (GRCm39)	Y429H	probably damaging	Het
Smyd1	C	T	6: 71,239,164 (GRCm39)	V9M	probably damaging	Het
Sostdc1	C	T	12: 36,367,246 (GRCm39)	Q141*	probably null	Het
Spam1	C	T	6: 24,796,109 (GRCm39)	T20I	probably benign	Het
Tex47	T	C	5: 7,354,834 (GRCm39)	V5A	probably benign	Het
Thbs4	T	C	13: 92,912,582 (GRCm39)		probably null	Het
Trim45	C	T	3: 100,837,257 (GRCm39)	P531L	probably damaging	Het
Tshb	A	T	3: 102,685,478 (GRCm39)	Y50*	probably null	Het
Ttn	T	C	2: 76,599,320 (GRCm39)	I19230V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba6	G	A	5: 86,270,288 (GRCm39)	T832I	probably damaging	Het
Unc13d	A	T	11: 115,960,579 (GRCm39)	V497D	probably damaging	Het
Usp13	T	C	3: 32,892,007 (GRCm39)	V62A	probably damaging	Het
Vmn1r215	A	C	13: 23,260,189 (GRCm39)	L76F	probably damaging	Het
Vmn1r215	G	T	13: 23,260,190 (GRCm39)	G77C	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zbtb40	T	C	4: 136,722,594 (GRCm39)	D828G	probably damaging	Het
Zfp74	A	T	7: 29,633,990 (GRCm39)	C573S	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
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
R8029:Cdh24	UTSW	14	54,876,856 (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'- ACTGTAGTTAGGCCTCCAGAG -3'
(R):5'- TCGAGACTCGTCGCTCTTACAC -3'

Sequencing Primer
(F):5'- AGAGTTCCTCCGGCACTTAG -3'
(R):5'- CACCTTCCGTGTAGAAGCC -3'

Posted On

2016-10-26