Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Cdhr4'

332862

Institutional Source

Beutler Lab

Gene Symbol

Cdhr4

Ensembl Gene

ENSMUSG00000032595

Gene Name

cadherin-related family member 4

Synonyms

Cdh29, 1700021K14Rik, D330022A01Rik

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107992497-107999684 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107992951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 52 (E52K)

Ref Sequence

ENSEMBL: ENSMUSP00000135184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175759] [ENSMUST00000176306] [ENSMUST00000176373] [ENSMUST00000177173] [ENSMUST00000177508] [ENSMUST00000177368]

AlphaFold

H3BJZ2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000035215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175729

Predicted Effect

probably benign
Transcript: ENSMUST00000175759

SMART Domains

Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
Blast:CA	3	104	4e-44	BLAST
SCOP:d1l3wa3	59	104	4e-7	SMART
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175802

SMART Domains

Protein: ENSMUSP00000135003
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
CA	33	116	5.4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176196

Predicted Effect

probably benign
Transcript: ENSMUST00000176306

Predicted Effect

probably benign
Transcript: ENSMUST00000176334

Predicted Effect

probably benign
Transcript: ENSMUST00000176373

SMART Domains

Protein: ENSMUSP00000134896
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176382

Predicted Effect

probably benign
Transcript: ENSMUST00000177173
AA Change: E52K

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: E52K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
Blast:CA	149	224	2e-9	BLAST
Blast:CA	252	330	3e-33	BLAST
CA	354	437	2.24e-1	SMART
CA	459	542	5.86e-17	SMART
Blast:CA	566	649	3e-40	BLAST
transmembrane domain	680	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

probably benign
Transcript: ENSMUST00000177508

SMART Domains

Protein: ENSMUSP00000135332
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
Blast:CA	1	29	4e-7	BLAST
transmembrane domain	60	82	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177368

SMART Domains

Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

Domain	Start	End	E-Value	Type
Blast:UBA_e1_C	1	39	1e-10	BLAST

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Cdhr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Cdhr4	APN	9	107999545	missense	probably damaging	1.00
IGL01105:Cdhr4	APN	9	107995861	unclassified	probably benign
IGL02097:Cdhr4	APN	9	107993000	missense	probably benign	0.17
IGL02441:Cdhr4	APN	9	107993267	missense	possibly damaging	0.84
IGL02635:Cdhr4	APN	9	107992871	missense	probably benign	0.04
IGL02870:Cdhr4	APN	9	107998064	critical splice donor site	probably null
IGL03160:Cdhr4	APN	9	107995869	missense	probably benign	0.05
IGL03162:Cdhr4	APN	9	107998011	missense	probably damaging	1.00
IGL03250:Cdhr4	APN	9	107996659	missense	probably damaging	0.99
R0233:Cdhr4	UTSW	9	107996934	missense	probably benign	0.25
R0233:Cdhr4	UTSW	9	107996934	missense	probably benign	0.25
R1241:Cdhr4	UTSW	9	107995296	missense	probably benign	0.00
R1250:Cdhr4	UTSW	9	107997516	missense	probably damaging	1.00
R2102:Cdhr4	UTSW	9	107998007	missense	probably damaging	1.00
R2104:Cdhr4	UTSW	9	107996261	missense	probably damaging	0.97
R2106:Cdhr4	UTSW	9	107997494	missense	possibly damaging	0.75
R2108:Cdhr4	UTSW	9	107997644	missense	probably damaging	1.00
R2171:Cdhr4	UTSW	9	107992918	missense	probably benign	0.00
R2312:Cdhr4	UTSW	9	107995287	missense	probably benign	0.00
R4106:Cdhr4	UTSW	9	107996260	missense	probably damaging	1.00
R4686:Cdhr4	UTSW	9	107995684	missense	probably benign	0.00
R4799:Cdhr4	UTSW	9	107998699	splice site	probably benign
R5165:Cdhr4	UTSW	9	107997630	missense	probably damaging	1.00
R5478:Cdhr4	UTSW	9	107995591	missense	possibly damaging	0.61
R5574:Cdhr4	UTSW	9	107993328	unclassified	probably benign
R7387:Cdhr4	UTSW	9	107996912	nonsense	probably null
R7609:Cdhr4	UTSW	9	107997283	missense	probably damaging	0.99
R7663:Cdhr4	UTSW	9	107998772	nonsense	probably null
R8141:Cdhr4	UTSW	9	107996792	missense
R8483:Cdhr4	UTSW	9	107994999	missense	probably damaging	1.00
R8493:Cdhr4	UTSW	9	107996254	missense	probably damaging	1.00
R8715:Cdhr4	UTSW	9	107997397	missense
R8816:Cdhr4	UTSW	9	107995592	missense	possibly damaging	0.56
R9392:Cdhr4	UTSW	9	107996308	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGGAAGGACTTTGGCTG -3'
(R):5'- GCAGAGCTACTCAAGGACAC -3'

Sequencing Primer
(F):5'- CTGCTTGGCCTCCAGATGTG -3'
(R):5'- GAGCTACTCAAGGACACCTGTG -3'

Posted On

2015-08-18