Mutagenetix > Incidental Mutation

Incidental Mutation 'R4786:Cdh24'

367121

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

041995-MU

Accession Numbers

Essential gene?

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

Stock #

R4786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54868688-54878821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54875007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 333 (S333P)

Ref Sequence

ENSEMBL: ENSMUSP00000066005 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000067784
AA Change: S333P

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: S333P

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 benign
Transcript: ENSMUST00000227124

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: ENSMUST00000169818

SMART Domains

Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,106,321 (GRCm39)	I134N	possibly damaging	Het
Acvr1c	T	C	2: 58,170,366 (GRCm39)	Y414C	probably damaging	Het
Adam32	A	C	8: 25,353,509 (GRCm39)	S693R	probably damaging	Het
Aldh2	A	T	5: 121,710,887 (GRCm39)	F314Y	probably benign	Het
Anks1	A	G	17: 28,271,704 (GRCm39)	D874G	possibly damaging	Het
Ap4b1	T	A	3: 103,726,120 (GRCm39)	V372E	probably benign	Het
Aqp12	G	A	1: 92,934,177 (GRCm39)	C18Y	probably damaging	Het
Arap1	T	A	7: 101,034,212 (GRCm39)	I218N	possibly damaging	Het
Arhgap42	C	A	9: 9,238,703 (GRCm39)	E28*	probably null	Het
Asb5	G	A	8: 55,038,874 (GRCm39)	E247K	probably benign	Het
Atg9b	T	C	5: 24,591,087 (GRCm39)	D781G	possibly damaging	Het
Atxn10	A	G	15: 85,271,344 (GRCm39)	H294R	probably benign	Het
Bod1l	G	T	5: 41,976,781 (GRCm39)	T1511K	probably benign	Het
Btnl2	A	T	17: 34,582,322 (GRCm39)	N296I	probably damaging	Het
Camta1	A	T	4: 151,374,496 (GRCm39)	L168H	probably damaging	Het
Cant1	A	T	11: 118,299,665 (GRCm39)	V265E	possibly damaging	Het
Ccdc157	T	C	11: 4,101,861 (GRCm39)	D20G	probably damaging	Het
Cd209c	T	G	8: 3,995,698 (GRCm39)	T35P	possibly damaging	Het
Cdc20b	G	A	13: 113,215,268 (GRCm39)	V279M	probably damaging	Het
Cdh18	T	A	15: 23,410,873 (GRCm39)	W453R	probably null	Het
Ceacam11	T	C	7: 17,706,239 (GRCm39)		probably null	Het
Ciz1	C	T	2: 32,267,539 (GRCm39)	P150L	probably damaging	Het
Crip3	C	A	17: 46,741,968 (GRCm39)	Q152K	possibly damaging	Het
Dars2	G	A	1: 160,888,330 (GRCm39)	R197W	probably damaging	Het
Dctn4	A	G	18: 60,688,267 (GRCm39)	D394G	probably damaging	Het
Dido1	T	C	2: 180,312,664 (GRCm39)	Y1077C	possibly damaging	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Egln3	A	T	12: 54,232,367 (GRCm39)	I146N	probably damaging	Het
Eif2ak3	C	T	6: 70,869,602 (GRCm39)	T763M	possibly damaging	Het
Etfbkmt	A	T	6: 149,048,744 (GRCm39)	M1L	probably benign	Het
Fam171a1	A	T	2: 3,226,615 (GRCm39)	I583F	probably damaging	Het
Fbxo38	A	C	18: 62,662,745 (GRCm39)	L249W	probably damaging	Het
Fxyd5	T	C	7: 30,740,907 (GRCm39)		probably benign	Het
Gabrr3	C	A	16: 59,250,463 (GRCm39)	T154K	probably benign	Het
Gm7233	C	A	14: 43,038,347 (GRCm39)	D90E	probably benign	Het
Gm8186	A	G	17: 26,318,014 (GRCm39)	V61A	probably benign	Het
Gnao1	A	G	8: 94,670,931 (GRCm39)	I137V	probably benign	Het
Gnptab	A	G	10: 88,272,044 (GRCm39)	M945V	probably damaging	Het
Gpsm1	G	A	2: 26,212,493 (GRCm39)	A78T	probably benign	Het
Gtf2b	T	C	3: 142,487,230 (GRCm39)	L222P	probably damaging	Het
Hnrnpf	A	G	6: 117,900,857 (GRCm39)	Y47C	probably damaging	Het
Itga6	A	G	2: 71,669,034 (GRCm39)	N608S	possibly damaging	Het
Kdm2b	T	C	5: 123,018,917 (GRCm39)		probably null	Het
Krit1	T	A	5: 3,862,467 (GRCm39)	H207Q	possibly damaging	Het
Ky	A	G	9: 102,419,186 (GRCm39)	N398D	probably benign	Het
Lama1	T	A	17: 68,080,854 (GRCm39)	V1294E	possibly damaging	Het
Lef1	C	T	3: 130,905,173 (GRCm39)	T18I	probably damaging	Het
Lrp2	T	C	2: 69,368,300 (GRCm39)	N178S	probably damaging	Het
Lrrc36	A	G	8: 106,181,910 (GRCm39)	T525A	probably benign	Het
Map3k8	A	T	18: 4,340,647 (GRCm39)	C222*	probably null	Het
Mapre2	G	C	18: 24,011,016 (GRCm39)	S199T	probably benign	Het
Mcm3ap	A	G	10: 76,324,300 (GRCm39)	N911S	probably benign	Het
Mroh4	G	T	15: 74,482,083 (GRCm39)	H722Q	probably benign	Het
Muc21	A	T	17: 35,930,221 (GRCm39)		probably benign	Het
Myo5b	A	C	18: 74,828,451 (GRCm39)	Y701S	probably benign	Het
Myt1l	G	T	12: 29,861,457 (GRCm39)	V80L	unknown	Het
Ncoa7	C	A	10: 30,531,638 (GRCm39)	V24L	probably benign	Het
Nlrp10	A	T	7: 108,524,445 (GRCm39)	V345D	probably damaging	Het
Nmral1	C	A	16: 4,534,288 (GRCm39)	G51V	probably damaging	Het
Npc1	A	G	18: 12,332,554 (GRCm39)	I797T	probably benign	Het
Or4x6	A	T	2: 89,949,351 (GRCm39)	I197N	possibly damaging	Het
Or8g22	T	A	9: 38,958,783 (GRCm39)	R22*	probably null	Het
Or8g34	A	T	9: 39,373,137 (GRCm39)	I134L	probably benign	Het
Pclo	A	T	5: 14,773,281 (GRCm39)	I4419F	unknown	Het
Phf3	C	A	1: 30,855,638 (GRCm39)	E983*	probably null	Het
Pitpnm2	A	T	5: 124,259,806 (GRCm39)	Y1149*	probably null	Het
Sdc3	A	T	4: 130,550,079 (GRCm39)	T430S	probably damaging	Het
Sema3f	A	G	9: 107,559,881 (GRCm39)	V671A	probably benign	Het
Sigirr	T	G	7: 140,671,346 (GRCm39)	S379R	probably benign	Het
Slc25a23	T	A	17: 57,354,326 (GRCm39)	N360I	possibly damaging	Het
Slco6c1	A	T	1: 97,015,720 (GRCm39)	M357K	probably benign	Het
Sox14	C	A	9: 99,757,018 (GRCm39)	M240I	probably benign	Het
Stradb	A	T	1: 59,030,367 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,256,259 (GRCm39)	M200K	probably benign	Het
Tef	T	C	15: 81,699,453 (GRCm39)	S85P	probably benign	Het
Thada	T	A	17: 84,766,283 (GRCm39)	H41L	possibly damaging	Het
Tinagl1	A	G	4: 130,067,724 (GRCm39)	F90S	probably benign	Het
Tnfaip1	G	A	11: 78,421,045 (GRCm39)	T5I	possibly damaging	Het
Tnfrsf23	A	T	7: 143,233,801 (GRCm39)	V59D	probably damaging	Het
Tnpo3	A	G	6: 29,578,541 (GRCm39)	V311A	probably benign	Het
Trak1	T	A	9: 121,301,560 (GRCm39)	M772K	probably benign	Het
Ubash3a	A	G	17: 31,436,938 (GRCm39)	D185G	probably benign	Het
Vmn2r120	T	C	17: 57,829,048 (GRCm39)	T516A	probably benign	Het
Wdr4	A	C	17: 31,728,785 (GRCm39)	L130R	probably damaging	Het
Zfp12	T	C	5: 143,231,257 (GRCm39)	I528T	probably damaging	Het
Zfp607a	T	C	7: 27,578,838 (GRCm39)	L636P	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
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
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'- TCCAGGGGCCTTGTTTTCAG -3'
(R):5'- TTAGATCCCCTGTGTTGGAGC -3'

Sequencing Primer
(F):5'- ACATCCTTGAAGGGACC -3'
(R):5'- TAGAATTACCAGCTACGCCATGTG -3'

Posted On

2015-12-29