Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Cdh4'

542657

Institutional Source

Beutler Lab

Gene Symbol

Cdh4

Ensembl Gene

ENSMUSG00000000305

Gene Name

cadherin 4

Synonyms

R-Cadh, Rcad, R-cadherin

MMRRC Submission

045089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179442431-179899373 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 179797504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 148 (T148I)

Ref Sequence

ENSEMBL: ENSMUSP00000000314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000314] [ENSMUST00000108911]

AlphaFold

P39038

Predicted Effect

probably benign
Transcript: ENSMUST00000000314
AA Change: T148I

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: T148I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Cadherin_pro	30	121	1.18e-30	SMART
CA	187	272	2.31e-15	SMART
CA	296	387	4.33e-29	SMART
CA	410	503	2.21e-12	SMART
CA	526	610	7.16e-21	SMART
CA	630	715	3.78e-2	SMART
transmembrane domain	730	752	N/A	INTRINSIC
Pfam:Cadherin_C	760	909	2.5e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108911
AA Change: T148I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104539
Gene: ENSMUSG00000000305
AA Change: T148I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Cadherin_pro	30	121	1.18e-30	SMART
CA	187	272	2.31e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,293,718 (GRCm38)		probably benign	Het
5031439G07Rik	A	C	15: 84,949,597 (GRCm38)	Y419*	probably null	Het
Abca2	T	A	2: 25,444,139 (GRCm38)	F1809L	probably damaging	Het
Ache	C	T	5: 137,291,678 (GRCm38)	T423I	probably benign	Het
Acvrl1	A	G	15: 101,138,345 (GRCm38)	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,477,993 (GRCm38)	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,722,452 (GRCm38)	Q263P	unknown	Het
Asgr2	C	T	11: 70,096,810 (GRCm38)	L45F	probably damaging	Het
Baiap2l1	T	A	5: 144,285,579 (GRCm38)	Y122F	possibly damaging	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
Car8	A	T	4: 8,185,650 (GRCm38)		probably null	Het
Carns1	T	C	19: 4,170,082 (GRCm38)	T385A	probably benign	Het
Ccdc47	T	C	11: 106,202,737 (GRCm38)	T41A	probably benign	Het
Ccne1	A	T	7: 38,098,573 (GRCm38)		probably benign	Het
Cep85	C	T	4: 134,152,261 (GRCm38)	R392Q	probably damaging	Het
Ces1h	T	C	8: 93,353,495 (GRCm38)	T464A	unknown	Het
Cfl1	T	A	19: 5,492,616 (GRCm38)	S41R	possibly damaging	Het
Crnn	T	C	3: 93,148,135 (GRCm38)	V76A	probably damaging	Het
Cspg4	A	G	9: 56,887,101 (GRCm38)	T707A	probably benign	Het
Dgkh	A	T	14: 78,627,742 (GRCm38)	C53*	probably null	Het
Dhx34	G	T	7: 16,215,330 (GRCm38)	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,532,353 (GRCm38)	N201K	probably benign	Het
Dnah6	T	C	6: 73,021,178 (GRCm38)	E4087G	probably benign	Het
Dock6	T	C	9: 21,845,550 (GRCm38)	Y134C	probably damaging	Het
Duox2	A	G	2: 122,291,227 (GRCm38)	V662A	possibly damaging	Het
Dusp12	A	G	1: 170,880,961 (GRCm38)	F12L	probably damaging	Het
Eppk1	T	C	15: 76,111,037 (GRCm38)	E548G	probably benign	Het
Foxj2	A	G	6: 122,828,444 (GRCm38)	I92V	probably damaging	Het
Foxj2	A	G	6: 122,842,839 (GRCm38)	D562G	probably benign	Het
Gm17728	A	G	17: 9,422,159 (GRCm38)	R34G	probably damaging	Het
Gpc6	T	C	14: 117,624,548 (GRCm38)	I292T	probably damaging	Het
Gpr15	T	A	16: 58,718,185 (GRCm38)	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,383,922 (GRCm38)		probably benign	Het
H2ac12	A	G	13: 22,035,549 (GRCm38)	S2P	probably benign	Het
Hps3	T	A	3: 20,022,820 (GRCm38)	T393S	probably damaging	Het
Hspa1a	A	T	17: 34,970,291 (GRCm38)		probably null	Het
Hydin	A	G	8: 110,531,072 (GRCm38)	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,682,678 (GRCm38)	L102P	probably damaging	Het
Itga5	T	A	15: 103,350,226 (GRCm38)	N814I	probably benign	Het
Kcnb2	T	C	1: 15,710,256 (GRCm38)	S451P	probably damaging	Het
Klhl32	T	G	4: 24,709,030 (GRCm38)	I112L	probably damaging	Het
Knstrn	T	G	2: 118,834,094 (GRCm38)	I47R	possibly damaging	Het
Med23	T	A	10: 24,895,824 (GRCm38)	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,390,851 (GRCm38)	T361I	probably damaging	Het
Nipal3	A	G	4: 135,479,547 (GRCm38)	V112A	probably damaging	Het
Or10a5	T	A	7: 107,036,749 (GRCm38)	V198D	possibly damaging	Het
Or2b2	A	G	13: 21,703,073 (GRCm38)	E24G	probably benign	Het
Or4k41	T	C	2: 111,449,352 (GRCm38)	F71L	probably benign	Het
Or5g27	A	G	2: 85,579,481 (GRCm38)	M81V	probably benign	Het
Paxip1	G	A	5: 27,765,768 (GRCm38)	Q528*	probably null	Het
Proser2	T	C	2: 6,113,990 (GRCm38)	D14G	probably damaging	Het
Rp1	T	G	1: 4,345,655 (GRCm38)	I1745L	probably benign	Het
Rxfp2	G	T	5: 150,048,848 (GRCm38)		probably null	Het
Slc45a1	T	C	4: 150,638,594 (GRCm38)	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,886,369 (GRCm38)	I455T	possibly damaging	Het
Speg	T	C	1: 75,430,913 (GRCm38)	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,597,125 (GRCm38)	A51D	probably damaging	Het
Tecrl	T	C	5: 83,354,921 (GRCm38)	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,518,508 (GRCm38)	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,692,468 (GRCm38)	V58A	possibly damaging	Het
Ttn	A	G	2: 76,861,177 (GRCm38)		probably benign	Het
Ubqln5	A	G	7: 104,128,601 (GRCm38)	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,323,488 (GRCm38)	I50L	probably benign	Het
Vmn2r103	A	T	17: 19,793,477 (GRCm38)	Y177F	probably benign	Het
Zfp28	C	A	7: 6,394,693 (GRCm38)	T709K	probably damaging	Het
Zfp958	A	G	8: 4,626,170 (GRCm38)	N46S	probably benign	Het
Zyx	T	A	6: 42,350,357 (GRCm38)	V30E	unknown	Het

Other mutations in Cdh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdh4	APN	2	179,874,144 (GRCm38)	missense	probably damaging	1.00
IGL01411:Cdh4	APN	2	179,780,403 (GRCm38)	missense	probably damaging	0.96
IGL01752:Cdh4	APN	2	179,890,884 (GRCm38)	missense	probably damaging	1.00
IGL02814:Cdh4	APN	2	179,780,474 (GRCm38)	missense	probably benign	0.01
R0082:Cdh4	UTSW	2	179,894,188 (GRCm38)	missense	possibly damaging	0.75
R0357:Cdh4	UTSW	2	179,847,340 (GRCm38)	missense	probably damaging	1.00
R1521:Cdh4	UTSW	2	179,797,558 (GRCm38)	missense	probably damaging	1.00
R1591:Cdh4	UTSW	2	179,886,864 (GRCm38)	critical splice donor site	probably null
R1622:Cdh4	UTSW	2	179,889,092 (GRCm38)	missense	possibly damaging	0.56
R1762:Cdh4	UTSW	2	179,797,480 (GRCm38)	missense	probably benign	0.01
R1794:Cdh4	UTSW	2	179,886,842 (GRCm38)	missense	probably damaging	1.00
R2275:Cdh4	UTSW	2	179,890,847 (GRCm38)	missense	probably damaging	1.00
R2277:Cdh4	UTSW	2	179,797,524 (GRCm38)	missense	possibly damaging	0.88
R3686:Cdh4	UTSW	2	179,780,367 (GRCm38)	missense	probably benign	0.09
R3861:Cdh4	UTSW	2	179,874,097 (GRCm38)	missense	probably damaging	1.00
R4078:Cdh4	UTSW	2	179,889,173 (GRCm38)	missense	possibly damaging	0.93
R4495:Cdh4	UTSW	2	179,780,389 (GRCm38)	missense	probably damaging	0.98
R4715:Cdh4	UTSW	2	179,780,467 (GRCm38)	missense	probably benign	0.03
R4893:Cdh4	UTSW	2	179,847,419 (GRCm38)	intron	probably benign
R5029:Cdh4	UTSW	2	179,881,949 (GRCm38)	missense	possibly damaging	0.93
R5363:Cdh4	UTSW	2	179,886,763 (GRCm38)	missense	probably benign
R5542:Cdh4	UTSW	2	179,860,226 (GRCm38)	missense	probably damaging	0.98
R5773:Cdh4	UTSW	2	179,885,996 (GRCm38)	missense	probably damaging	1.00
R5791:Cdh4	UTSW	2	179,895,767 (GRCm38)	missense	probably damaging	1.00
R6262:Cdh4	UTSW	2	179,797,626 (GRCm38)	missense	probably damaging	1.00
R6338:Cdh4	UTSW	2	179,890,812 (GRCm38)	missense	probably damaging	1.00
R6589:Cdh4	UTSW	2	179,881,996 (GRCm38)	critical splice donor site	probably null
R6607:Cdh4	UTSW	2	179,874,096 (GRCm38)	missense	probably benign	0.00
R6653:Cdh4	UTSW	2	179,780,428 (GRCm38)	missense	probably benign	0.34
R6711:Cdh4	UTSW	2	179,890,931 (GRCm38)	missense	probably damaging	1.00
R6744:Cdh4	UTSW	2	179,847,387 (GRCm38)	missense	possibly damaging	0.68
R6824:Cdh4	UTSW	2	179,797,558 (GRCm38)	missense	probably damaging	1.00
R6901:Cdh4	UTSW	2	179,860,194 (GRCm38)	missense	probably benign	0.19
R7285:Cdh4	UTSW	2	179,797,465 (GRCm38)	missense	probably benign	0.00
R7514:Cdh4	UTSW	2	179,890,843 (GRCm38)	missense	possibly damaging	0.91
R7541:Cdh4	UTSW	2	179,444,810 (GRCm38)	splice site	probably null
R7560:Cdh4	UTSW	2	179,890,902 (GRCm38)	missense	probably benign	0.25
R8146:Cdh4	UTSW	2	179,874,078 (GRCm38)	missense	possibly damaging	0.91
R8833:Cdh4	UTSW	2	179,894,035 (GRCm38)	missense	possibly damaging	0.61
R9075:Cdh4	UTSW	2	179,860,147 (GRCm38)	missense	probably damaging	0.97
R9203:Cdh4	UTSW	2	179,780,403 (GRCm38)	missense	probably damaging	0.96
Z1177:Cdh4	UTSW	2	179,780,326 (GRCm38)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GAATCATGTTGCTTAGCCCAAAG -3'
(R):5'- TGTCTCTTTACAACGGTGCC -3'

Sequencing Primer
(F):5'- GCTTAGCCCAAAGCCATGG -3'
(R):5'- GAGTGCCCAGAAGAGACATCTC -3'

Posted On

2018-11-28