Mutagenetix > Incidental Mutation

Incidental Mutation 'R1250:Cdhr4'

151725

Institutional Source

Beutler Lab

Gene Symbol

Cdhr4

Ensembl Gene

ENSMUSG00000032595

Gene Name

cadherin-related family member 4

Synonyms

D330022A01Rik, 1700021K14Rik, Cdh29

MMRRC Submission

039317-MU

Accession Numbers

Essential gene?

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

Stock #

R1250 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107869696-107876883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107874715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 20 (Q20L)

Gene Model

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

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

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

probably benign
Transcript: ENSMUST00000177173
AA Change: Q595L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: Q595L

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

probably damaging
Transcript: ENSMUST00000176334
AA Change: Q20L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176196

Predicted Effect

probably benign
Transcript: ENSMUST00000176459

Predicted Effect

probably benign
Transcript: ENSMUST00000176306

Predicted Effect

probably benign
Transcript: ENSMUST00000176356

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: 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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aptx	T	A	4: 40,693,447 (GRCm39)	E162D	probably benign	Het
Dlk1	A	T	12: 109,425,744 (GRCm39)	T206S	probably damaging	Het
Gabrr2	T	C	4: 33,063,273 (GRCm39)	L32P	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Kntc1	T	A	5: 123,922,262 (GRCm39)	S954T	possibly damaging	Het
Krt28	A	G	11: 99,257,648 (GRCm39)		probably null	Het
Lingo3	T	C	10: 80,670,605 (GRCm39)	T442A	probably benign	Het
Map3k5	G	A	10: 19,986,521 (GRCm39)	A912T	possibly damaging	Het
Msantd3	C	A	4: 48,552,789 (GRCm39)	P126Q	probably damaging	Het
Nek10	T	C	14: 14,853,887 (GRCm38)	S358P	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prss59	A	T	6: 40,902,909 (GRCm39)		probably null	Het
Qtrt1	C	T	9: 21,330,844 (GRCm39)	T324M	probably benign	Het
Rag2	A	G	2: 101,460,784 (GRCm39)	S365G	probably damaging	Het
Slc6a2	C	A	8: 93,719,491 (GRCm39)	T402K	probably benign	Het
Slc9b1	T	C	3: 135,054,531 (GRCm39)	M1T	probably null	Het
Ttn	A	G	2: 76,720,904 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,643 (GRCm39)	V74A	probably benign	Het
Zkscan3	A	G	13: 21,572,694 (GRCm39)	F313L	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
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
R4799:Cdhr4	UTSW	9	107,875,898 (GRCm39)	splice site	probably benign
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'- TCTCCAGGACGTGAATGACCATGC -3'
(R):5'- GGCCTTCCAAGGAACTAGATGCAC -3'

Sequencing Primer
(F):5'- GTGAGCCTCCATTTCAGGAAC -3'
(R):5'- CTAGATGCACAATAATGGTGGTTG -3'

Posted On

2014-01-29