Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Cdhr5'

561145

Institutional Source

Beutler Lab

Gene Symbol

Cdhr5

Ensembl Gene

ENSMUSG00000025497

Gene Name

cadherin-related family member 5

Synonyms

Mupcdh, Mucdhl, 1810074H01Rik

MMRRC Submission

045340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140848996-140856699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140852572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 348 (R348H)

Ref Sequence

ENSEMBL: ENSMUSP00000127292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080654] [ENSMUST00000167263] [ENSMUST00000210124] [ENSMUST00000210773]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000080654
AA Change: R348H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: R348H

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	3e-24	BLAST
transmembrane domain	478	500	N/A	INTRINSIC
low complexity region	546	580	N/A	INTRINSIC
low complexity region	634	653	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167263
AA Change: R348H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: R348H

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	1e-24	BLAST
low complexity region	462	476	N/A	INTRINSIC
low complexity region	496	518	N/A	INTRINSIC
low complexity region	520	544	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
transmembrane domain	640	662	N/A	INTRINSIC
low complexity region	708	742	N/A	INTRINSIC
low complexity region	796	815	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000210124
AA Change: R98H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210773
AA Change: R23H

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,138,654 (GRCm39)	A193V	probably benign	Het
Aatf	C	T	11: 84,340,006 (GRCm39)	R435Q	probably damaging	Het
Abca13	A	G	11: 9,248,854 (GRCm39)	H2867R	probably benign	Het
Abcd2	C	T	15: 91,043,326 (GRCm39)	A621T	possibly damaging	Het
Actl11	T	A	9: 107,805,856 (GRCm39)	S60T	probably damaging	Het
Adam28	T	A	14: 68,874,846 (GRCm39)	N277I	probably damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,251,581 (GRCm39)	R49Q	probably damaging	Het
Armc10	T	C	5: 21,865,581 (GRCm39)	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 100,934,783 (GRCm39)	F617L	probably benign	Het
Bap1	T	A	14: 30,973,580 (GRCm39)	N2K	probably damaging	Het
Bltp1	C	A	3: 37,102,158 (GRCm39)	N1363K		Het
Cass4	T	A	2: 172,269,106 (GRCm39)	L396*	probably null	Het
Ccdc40	A	G	11: 119,155,270 (GRCm39)	Q1170R	probably damaging	Het
Cenpj	A	G	14: 56,790,109 (GRCm39)	S647P	probably benign	Het
Chordc1	T	A	9: 18,206,647 (GRCm39)		probably null	Het
Chordc1	T	C	9: 18,212,308 (GRCm39)	S41P	probably damaging	Het
Ckm	T	C	7: 19,148,978 (GRCm39)		probably null	Het
Clca3a1	A	C	3: 144,711,727 (GRCm39)	I756S	probably damaging	Het
Clcn1	T	C	6: 42,268,323 (GRCm39)	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,968,704 (GRCm39)		probably null	Het
Cog7	T	C	7: 121,576,537 (GRCm39)	K130E	probably damaging	Het
Coq7	A	G	7: 118,109,271 (GRCm39)	I259T	unknown	Het
Cp	T	C	3: 20,029,130 (GRCm39)	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,288,447 (GRCm39)		probably null	Het
Dcst2	A	G	3: 89,273,607 (GRCm39)	I162V	probably benign	Het
Dennd4c	A	G	4: 86,721,228 (GRCm39)	E630G	probably damaging	Het
Dpt	A	T	1: 164,624,484 (GRCm39)	I62F	probably benign	Het
Ednrb	T	A	14: 104,080,444 (GRCm39)	I157F	probably damaging	Het
Ext1	A	T	15: 53,208,558 (GRCm39)	W68R	probably benign	Het
Fgf4	A	G	7: 144,416,523 (GRCm39)	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,504,864 (GRCm39)	T90S	unknown	Het
Galnt17	T	C	5: 130,992,949 (GRCm39)	T322A	possibly damaging	Het
Gcm1	A	T	9: 77,966,925 (GRCm39)	D48V	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm49358	G	T	10: 86,661,071 (GRCm39)	R353L	probably damaging	Het
Golga4	A	G	9: 118,365,908 (GRCm39)	E320G	possibly damaging	Het
Herc3	T	C	6: 58,895,758 (GRCm39)	I1002T	probably damaging	Het
Hip1r	T	A	5: 124,111,845 (GRCm39)	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,684,926 (GRCm39)	Q230*	probably null	Het
Igsf9b	C	T	9: 27,242,992 (GRCm39)	P726L	probably damaging	Het
Itgb6	T	C	2: 60,464,998 (GRCm39)	I345V	probably damaging	Het
Lhx4	G	T	1: 155,600,699 (GRCm39)	Q29K	probably benign	Het
Manba	A	G	3: 135,273,396 (GRCm39)	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,337,145 (GRCm39)	D1360G	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mmp14	T	G	14: 54,673,336 (GRCm39)	D81E	probably damaging	Het
Naalad2	T	C	9: 18,275,337 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or7a38	A	T	10: 78,753,339 (GRCm39)	I222L	possibly damaging	Het
Or8b35	T	A	9: 37,904,253 (GRCm39)	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,025,312 (GRCm39)	D488G	possibly damaging	Het
Prr5	T	G	15: 84,629,993 (GRCm39)	L108R	probably null	Het
Psg23	A	G	7: 18,341,064 (GRCm39)	S397P	probably benign	Het
Rfpl4	C	A	7: 5,113,659 (GRCm39)	R174L	probably damaging	Het
Runx3	T	A	4: 134,880,090 (GRCm39)	I3N	probably damaging	Het
Scn5a	A	T	9: 119,372,451 (GRCm39)	N214K	possibly damaging	Het
Slc27a1	T	C	8: 72,037,092 (GRCm39)	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,116,210 (GRCm39)	T530P	probably benign	Het
Tex15	A	T	8: 34,060,854 (GRCm39)	R95*	probably null	Het
Tex15	T	C	8: 34,063,023 (GRCm39)	S818P	probably damaging	Het
Tmod1	A	T	4: 46,093,951 (GRCm39)	K221*	probably null	Het
Tpm3	G	A	3: 89,998,361 (GRCm39)	D272N	probably benign	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,273,131 (GRCm39)	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,215,268 (GRCm39)	E417V	probably benign	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Zfp217	A	T	2: 169,956,072 (GRCm39)	S975R	probably benign	Het
Zfr	C	T	15: 12,146,309 (GRCm39)	Q287*	probably null	Het

Other mutations in Cdhr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Cdhr5	APN	7	140,849,894 (GRCm39)	missense	probably damaging	0.99
IGL02662:Cdhr5	APN	7	140,854,416 (GRCm39)	missense	possibly damaging	0.57
R0002:Cdhr5	UTSW	7	140,849,933 (GRCm39)	splice site	probably null
R0098:Cdhr5	UTSW	7	140,849,781 (GRCm39)	missense	probably damaging	1.00
R0201:Cdhr5	UTSW	7	140,856,291 (GRCm39)	missense	probably damaging	1.00
R0494:Cdhr5	UTSW	7	140,852,431 (GRCm39)	missense	probably damaging	1.00
R0508:Cdhr5	UTSW	7	140,852,812 (GRCm39)	missense	probably benign	0.41
R0918:Cdhr5	UTSW	7	140,852,062 (GRCm39)	missense	probably damaging	1.00
R1570:Cdhr5	UTSW	7	140,851,682 (GRCm39)	missense	probably damaging	1.00
R1571:Cdhr5	UTSW	7	140,852,083 (GRCm39)	missense	probably damaging	1.00
R1838:Cdhr5	UTSW	7	140,852,516 (GRCm39)	missense	possibly damaging	0.93
R3912:Cdhr5	UTSW	7	140,853,770 (GRCm39)	missense	probably damaging	1.00
R4289:Cdhr5	UTSW	7	140,852,752 (GRCm39)	missense	probably damaging	0.99
R4491:Cdhr5	UTSW	7	140,853,970 (GRCm39)	missense	possibly damaging	0.55
R4838:Cdhr5	UTSW	7	140,853,644 (GRCm39)	missense	probably damaging	1.00
R4949:Cdhr5	UTSW	7	140,852,557 (GRCm39)	missense	probably damaging	0.97
R5187:Cdhr5	UTSW	7	140,854,361 (GRCm39)	missense	probably damaging	1.00
R5344:Cdhr5	UTSW	7	140,856,437 (GRCm39)	missense	probably damaging	0.97
R5642:Cdhr5	UTSW	7	140,849,110 (GRCm39)	nonsense	probably null
R6736:Cdhr5	UTSW	7	140,852,444 (GRCm39)	missense	probably damaging	0.97
R7172:Cdhr5	UTSW	7	140,851,841 (GRCm39)	missense	possibly damaging	0.90
R7693:Cdhr5	UTSW	7	140,851,691 (GRCm39)	missense	probably benign
R8397:Cdhr5	UTSW	7	140,851,801 (GRCm39)	missense	possibly damaging	0.87
R8682:Cdhr5	UTSW	7	140,855,899 (GRCm39)	critical splice donor site	probably null
R8804:Cdhr5	UTSW	7	140,849,320 (GRCm39)	missense	probably benign	0.01
R9216:Cdhr5	UTSW	7	140,851,615 (GRCm39)	missense	possibly damaging	0.55
R9304:Cdhr5	UTSW	7	140,851,474 (GRCm39)	missense	probably benign	0.06
RF016:Cdhr5	UTSW	7	140,852,097 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTATAGGGTTCCTAGGTGAACAGGG -3'
(R):5'- AAAGTATCCCGAGCCCCATG -3'

Sequencing Primer
(F):5'- GAAGGTCTTGTCCTTCAC -3'
(R):5'- ATGAAGTTCACCCTTCTGATCAGG -3'

Posted On

2019-06-26