Mutagenetix > Incidental Mutations

Incidental Mutation 'R5574:Cdhr4'

437123

Institutional Source

Beutler Lab

Gene Symbol

Cdhr4

Ensembl Gene

ENSMUSG00000032595

Gene Name

cadherin-related family member 4

Synonyms

Cdh29, 1700021K14Rik, D330022A01Rik

MMRRC Submission

043129-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107992497-107999684 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 107993328 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175759] [ENSMUST00000176306] [ENSMUST00000176356] [ENSMUST00000176373] [ENSMUST00000177508] [ENSMUST00000177368] [ENSMUST00000177173]

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: ENSMUST00000175891

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: ENSMUST00000176356

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

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

probably benign
Transcript: ENSMUST00000176459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177516

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177173

SMART Domains

Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly 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
R4515:Cdhr4	UTSW	9	107992951	missense	probably benign	0.31
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
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'- TCCTTGAGTAGCTCTGCTCG -3'
(R):5'- TAAGAGTTTGTGCCTGGGAC -3'

Sequencing Primer
(F):5'- AGTAGCTCTGCTCGGCTGG -3'
(R):5'- ACAGGAGCAGAGCCCTC -3'

Posted On

2016-10-26