Mutagenetix > Incidental Mutation

Incidental Mutation 'R4799:Cdhr4'

369346

Institutional Source

Beutler Lab

Gene Symbol

Cdhr4

Ensembl Gene

ENSMUSG00000032595

Gene Name

cadherin-related family member 4

Synonyms

D330022A01Rik, 1700021K14Rik, Cdh29

MMRRC Submission

041997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107869696-107876883 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 107875898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000164395] [ENSMUST00000175759] [ENSMUST00000176373] [ENSMUST00000175874] [ENSMUST00000176854] [ENSMUST00000176356] [ENSMUST00000176306] [ENSMUST00000177508] [ENSMUST00000177173] [ENSMUST00000177368]

AlphaFold

H3BJZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000035214

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC
Pfam:IPK	207	426	2.2e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000035215

Predicted Effect

probably benign
Transcript: ENSMUST00000164395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167159

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

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: ENSMUST00000176454

Predicted Effect

probably benign
Transcript: ENSMUST00000176334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176919

Predicted Effect

probably benign
Transcript: ENSMUST00000175874

SMART Domains

Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176854

SMART Domains

Protein: ENSMUSP00000141232
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176356

Predicted Effect

probably benign
Transcript: ENSMUST00000176306

Predicted Effect

probably benign
Transcript: ENSMUST00000176459

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177093

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (122/126)

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Acads	T	A	5: 115,251,149 (GRCm39)	T112S	probably benign	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,527 (GRCm39)	K412E	probably benign	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,260,909 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,733,462 (GRCm39)	T661A	probably benign	Het
Bhmt1b	C	A	18: 87,774,573 (GRCm39)	A32E	probably damaging	Het
Capn7	T	C	14: 31,082,514 (GRCm39)	I455M	probably benign	Het
Capzb	A	G	4: 138,920,310 (GRCm39)		probably benign	Het
Car10	G	A	11: 93,469,492 (GRCm39)	V156I	possibly damaging	Het
Cbs	T	A	17: 31,851,826 (GRCm39)	D59V	probably damaging	Het
Ccar2	T	C	14: 70,377,003 (GRCm39)	E819G	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cfap251	C	T	5: 123,440,835 (GRCm39)	H1131Y	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Cps1	T	C	1: 67,182,145 (GRCm39)	Y120H	probably damaging	Het
Csf2	T	C	11: 54,140,306 (GRCm39)	D44G	probably benign	Het
Cubn	T	A	2: 13,291,835 (GRCm39)	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,355,869 (GRCm39)	S1788P	probably damaging	Het
Cul9	T	C	17: 46,811,770 (GRCm39)	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,762,293 (GRCm39)	S451R	probably damaging	Het
Cyp51	T	A	5: 4,133,256 (GRCm39)	T461S	probably damaging	Het
Cyth1	T	C	11: 118,074,768 (GRCm39)	M164V	probably damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddc	T	C	11: 11,796,632 (GRCm39)		probably null	Het
Ddx21	A	T	10: 62,423,900 (GRCm39)	D589E	probably damaging	Het
Dgkb	C	T	12: 38,164,567 (GRCm39)	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Elp4	T	A	2: 105,639,612 (GRCm39)	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,773,490 (GRCm39)	N77S	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F2rl1	G	A	13: 95,650,477 (GRCm39)	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,607,815 (GRCm39)	M65T	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbh1	C	T	2: 11,760,558 (GRCm39)	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,811,168 (GRCm39)	Q98*	probably null	Het
Flrt3	T	C	2: 140,502,086 (GRCm39)	N514S	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,811,685 (GRCm39)		noncoding transcript	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Gsap	C	A	5: 21,455,941 (GRCm39)	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,760,181 (GRCm39)	Y270F	probably benign	Het
Ift70a2	T	A	2: 75,807,729 (GRCm39)	Y261F	probably benign	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrrcc1	C	T	3: 14,601,156 (GRCm39)	R63*	probably null	Het
Lyar	A	G	5: 38,382,123 (GRCm39)	D35G	probably damaging	Het
Mbd4	C	T	6: 115,822,283 (GRCm39)	R442Q	probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052 (GRCm39)		probably null	Het
Mtmr3	G	A	11: 4,437,764 (GRCm39)	H897Y	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nap1l4	A	T	7: 143,088,200 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,114,124 (GRCm39)		probably null	Het
Ndufa7	T	C	17: 34,057,187 (GRCm39)		probably benign	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,466,145 (GRCm39)	A1528S	possibly damaging	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or4a79	C	T	2: 89,551,706 (GRCm39)	V250I	probably benign	Het
Or52z1	A	T	7: 103,436,688 (GRCm39)	F265L	possibly damaging	Het
Or7a42	T	G	10: 78,791,931 (GRCm39)	D297E	probably null	Het
Or8k39	C	T	2: 86,563,018 (GRCm39)		probably null	Het
Pcdhb8	A	G	18: 37,488,706 (GRCm39)	D128G	probably damaging	Het
Pkp4	A	T	2: 59,172,449 (GRCm39)	I522F	probably damaging	Het
Plod3	G	A	5: 137,019,654 (GRCm39)	A398T	probably benign	Het
Pou4f3	A	G	18: 42,529,052 (GRCm39)	M332V	possibly damaging	Het
Prox1	A	G	1: 189,885,669 (GRCm39)	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Prss50	A	G	9: 110,692,864 (GRCm39)	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126 (GRCm38)	S71N	probably benign	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprr	C	T	10: 115,884,123 (GRCm39)	A60V	probably benign	Het
Raet1e	T	A	10: 22,057,199 (GRCm39)	D174E	probably damaging	Het
Rbfox2	T	C	15: 76,976,018 (GRCm39)	I308M	probably benign	Het
Rnf20	G	C	4: 49,649,962 (GRCm39)		probably null	Het
Rpap2	A	T	5: 107,768,113 (GRCm39)	H317L	probably benign	Het
Rsph6a	T	A	7: 18,799,783 (GRCm39)	Y471*	probably null	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Skint2	G	A	4: 112,509,305 (GRCm39)	A363T	probably benign	Het
Slc22a30	A	G	19: 8,321,768 (GRCm39)	I432T	probably benign	Het
Slc2a2	G	A	3: 28,771,681 (GRCm39)		probably null	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,684,111 (GRCm39)	H290Y	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spag9	T	A	11: 93,939,343 (GRCm39)	F91I	probably damaging	Het
Spag9	A	T	11: 93,939,342 (GRCm39)	K90N	possibly damaging	Het
Stox1	A	C	10: 62,501,516 (GRCm39)	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,738,027 (GRCm39)	V18A	possibly damaging	Het
Syne2	A	G	12: 75,945,941 (GRCm39)	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,012,991 (GRCm39)	Q327L	probably benign	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Timd2	A	T	11: 46,568,094 (GRCm39)	Y233*	probably null	Het
Tmem39a	A	G	16: 38,411,524 (GRCm39)		probably benign	Het
Trappc10	T	C	10: 78,037,424 (GRCm39)	D793G	possibly damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Unc93a	T	C	17: 13,339,782 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,332,369 (GRCm39)	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,196,016 (GRCm39)	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,682,891 (GRCm39)	D771V	probably damaging	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zc3h13	G	A	14: 75,576,863 (GRCm39)	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,523,775 (GRCm39)	K224E	probably damaging	Het
Zfp54	T	A	17: 21,654,402 (GRCm39)	Y299N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zfp960	T	A	17: 17,308,698 (GRCm39)	F471I	probably damaging	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het
Zzef1	G	T	11: 72,750,449 (GRCm39)	S919I	probably benign	Het

Other mutations in Cdhr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Cdhr4	APN	9	107,876,744 (GRCm39)	missense	probably damaging	1.00
IGL01105:Cdhr4	APN	9	107,873,060 (GRCm39)	unclassified	probably benign
IGL02097:Cdhr4	APN	9	107,870,199 (GRCm39)	missense	probably benign	0.17
IGL02441:Cdhr4	APN	9	107,870,466 (GRCm39)	missense	possibly damaging	0.84
IGL02635:Cdhr4	APN	9	107,870,070 (GRCm39)	missense	probably benign	0.04
IGL02870:Cdhr4	APN	9	107,875,263 (GRCm39)	critical splice donor site	probably null
IGL03160:Cdhr4	APN	9	107,873,068 (GRCm39)	missense	probably benign	0.05
IGL03162:Cdhr4	APN	9	107,875,210 (GRCm39)	missense	probably damaging	1.00
IGL03250:Cdhr4	APN	9	107,873,858 (GRCm39)	missense	probably damaging	0.99
R0233:Cdhr4	UTSW	9	107,874,133 (GRCm39)	missense	probably benign	0.25
R0233:Cdhr4	UTSW	9	107,874,133 (GRCm39)	missense	probably benign	0.25
R1241:Cdhr4	UTSW	9	107,872,495 (GRCm39)	missense	probably benign	0.00
R1250:Cdhr4	UTSW	9	107,874,715 (GRCm39)	missense	probably damaging	1.00
R2102:Cdhr4	UTSW	9	107,875,206 (GRCm39)	missense	probably damaging	1.00
R2104:Cdhr4	UTSW	9	107,873,460 (GRCm39)	missense	probably damaging	0.97
R2106:Cdhr4	UTSW	9	107,874,693 (GRCm39)	missense	possibly damaging	0.75
R2108:Cdhr4	UTSW	9	107,874,843 (GRCm39)	missense	probably damaging	1.00
R2171:Cdhr4	UTSW	9	107,870,117 (GRCm39)	missense	probably benign	0.00
R2312:Cdhr4	UTSW	9	107,872,486 (GRCm39)	missense	probably benign	0.00
R4106:Cdhr4	UTSW	9	107,873,459 (GRCm39)	missense	probably damaging	1.00
R4515:Cdhr4	UTSW	9	107,870,150 (GRCm39)	missense	probably benign	0.31
R4686:Cdhr4	UTSW	9	107,872,883 (GRCm39)	missense	probably benign	0.00
R5165:Cdhr4	UTSW	9	107,874,829 (GRCm39)	missense	probably damaging	1.00
R5478:Cdhr4	UTSW	9	107,872,790 (GRCm39)	missense	possibly damaging	0.61
R5574:Cdhr4	UTSW	9	107,870,527 (GRCm39)	unclassified	probably benign
R7387:Cdhr4	UTSW	9	107,874,111 (GRCm39)	nonsense	probably null
R7609:Cdhr4	UTSW	9	107,874,482 (GRCm39)	missense	probably damaging	0.99
R7663:Cdhr4	UTSW	9	107,875,971 (GRCm39)	nonsense	probably null
R8141:Cdhr4	UTSW	9	107,873,991 (GRCm39)	missense
R8483:Cdhr4	UTSW	9	107,872,198 (GRCm39)	missense	probably damaging	1.00
R8493:Cdhr4	UTSW	9	107,873,453 (GRCm39)	missense	probably damaging	1.00
R8715:Cdhr4	UTSW	9	107,874,596 (GRCm39)	missense
R8816:Cdhr4	UTSW	9	107,872,791 (GRCm39)	missense	possibly damaging	0.56
R9392:Cdhr4	UTSW	9	107,873,507 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGGCCTACTACTTTCTTGGC -3'
(R):5'- CGCCTGATCTATCTTGGTGG -3'

Sequencing Primer
(F):5'- GCCTTTTAGGTTGGCCCCG -3'
(R):5'- TATCGGCACTCACAGGGGTAG -3'

Posted On

2016-02-04