Mutagenetix > Incidental Mutation

Incidental Mutation 'R2098:Cdhr2'

230391

Institutional Source

Beutler Lab

Gene Symbol

Cdhr2

Ensembl Gene

ENSMUSG00000034918

Gene Name

cadherin-related family member 2

Synonyms

Pcdh24, LOC268663

MMRRC Submission

040102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2098 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54849276-54884475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54863457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 113 (I113V)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037145]

AlphaFold

E9Q7P9

Predicted Effect

probably benign
Transcript: ENSMUST00000037145
AA Change: I113V

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: I113V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	48	122	8.62e-15	SMART
CA	146	239	1.4e-2	SMART
CA	263	351	2.19e-16	SMART
CA	391	478	4.22e-9	SMART
CA	503	584	2.15e-24	SMART
CA	605	693	6.78e-22	SMART
CA	715	805	1.78e-16	SMART
CA	830	925	7.57e-11	SMART
CA	950	1042	7.1e-2	SMART
low complexity region	1121	1147	N/A	INTRINSIC
transmembrane domain	1153	1175	N/A	INTRINSIC
low complexity region	1195	1209	N/A	INTRINSIC
low complexity region	1234	1250	N/A	INTRINSIC
low complexity region	1264	1277	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,927,405 (GRCm39)	E1316G	probably damaging	Het
Arhgap32	C	A	9: 32,171,207 (GRCm39)	T1329K	probably damaging	Het
Arhgef10l	G	C	4: 140,306,743 (GRCm39)	L104V	probably damaging	Het
Bend3	T	C	10: 43,386,500 (GRCm39)	S298P	probably damaging	Het
Cacna1b	C	T	2: 24,540,558 (GRCm39)	V1385M	probably damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Cd84	G	A	1: 171,713,148 (GRCm39)	C291Y	probably benign	Het
Cfap206	G	A	4: 34,719,053 (GRCm39)	Q318*	probably null	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cyth1	T	A	11: 118,084,479 (GRCm39)	I25F	probably damaging	Het
Dock2	A	T	11: 34,216,279 (GRCm39)	N1208K	probably benign	Het
Dock2	A	G	11: 34,609,832 (GRCm39)	S203P	probably damaging	Het
Ehbp1l1	G	T	19: 5,758,686 (GRCm39)	T1652K	possibly damaging	Het
Eps8l2	G	A	7: 140,935,705 (GRCm39)		probably null	Het
Fam3d	T	C	14: 8,361,479 (GRCm38)	I47V	probably benign	Het
Gm10250	A	G	15: 5,150,296 (GRCm39)		probably benign	Het
Gm9772	T	C	17: 22,225,618 (GRCm39)	H94R	probably benign	Het
Hspg2	G	A	4: 137,247,420 (GRCm39)	G1184D	probably damaging	Het
Igfn1	T	A	1: 135,906,043 (GRCm39)	D255V	probably damaging	Het
Marf1	T	C	16: 13,932,064 (GRCm39)	H1651R	probably benign	Het
Mllt10	T	C	2: 18,167,464 (GRCm39)	V385A	possibly damaging	Het
Mmp1b	G	A	9: 7,386,984 (GRCm39)	S76L	probably benign	Het
Mrps2	C	A	2: 28,358,327 (GRCm39)	T39K	probably benign	Het
Myo6	T	C	9: 80,188,808 (GRCm39)	Y715H	probably damaging	Het
Nsun7	A	G	5: 66,441,055 (GRCm39)	E392G	probably damaging	Het
Obscn	C	T	11: 58,960,817 (GRCm39)	E3374K	probably damaging	Het
Or2a20	G	A	6: 43,194,437 (GRCm39)	V197I	probably benign	Het
Or4c11	A	T	2: 88,695,215 (GRCm39)	I89F	probably benign	Het
Or56a4	A	G	7: 104,806,478 (GRCm39)	V137A	probably benign	Het
Or5w13	A	T	2: 87,524,073 (GRCm39)	M51K	probably benign	Het
Pkd2	C	T	5: 104,626,768 (GRCm39)	P317S	probably damaging	Het
Prl5a1	T	C	13: 28,329,488 (GRCm39)	S56P	probably damaging	Het
Psmd1	A	G	1: 86,009,823 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,733,305 (GRCm39)	C732R	probably damaging	Het
Rad51c	A	T	11: 87,293,589 (GRCm39)	V71E	probably benign	Het
Scn11a	A	T	9: 119,621,560 (GRCm39)	I619K	possibly damaging	Het
Sgpp1	T	G	12: 75,763,284 (GRCm39)	D299A	probably damaging	Het
Slc16a4	C	A	3: 107,208,163 (GRCm39)	Y224*	probably null	Het
Slc22a30	G	A	19: 8,378,175 (GRCm39)	S167L	probably damaging	Het
Slc6a5	T	C	7: 49,595,315 (GRCm39)	I559T	probably damaging	Het
Spire1	A	G	18: 67,636,536 (GRCm39)	F364L	probably damaging	Het
Srek1	G	A	13: 103,881,363 (GRCm39)	T421I	unknown	Het
St8sia4	T	C	1: 95,581,253 (GRCm39)	H163R	probably damaging	Het
Supt6	A	G	11: 78,104,087 (GRCm39)		probably null	Het
Tas2r103	T	C	6: 133,013,560 (GRCm39)	T169A	probably benign	Het
Thrap3	A	G	4: 126,073,823 (GRCm39)	S308P	probably damaging	Het
V1rd19	C	T	7: 23,703,160 (GRCm39)	L209F	probably damaging	Het
Zfp267	T	A	3: 36,220,289 (GRCm39)	S771T	probably benign	Het

Other mutations in Cdhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Cdhr2	APN	13	54,866,112 (GRCm39)	missense	probably damaging	1.00
IGL00596:Cdhr2	APN	13	54,868,810 (GRCm39)	missense	probably damaging	0.97
IGL00840:Cdhr2	APN	13	54,867,965 (GRCm39)	missense	probably damaging	0.96
IGL00956:Cdhr2	APN	13	54,866,156 (GRCm39)	missense	probably damaging	1.00
IGL01101:Cdhr2	APN	13	54,865,948 (GRCm39)	splice site	probably benign
IGL01150:Cdhr2	APN	13	54,878,931 (GRCm39)	missense	probably benign
IGL01412:Cdhr2	APN	13	54,873,707 (GRCm39)	missense	probably damaging	1.00
IGL01515:Cdhr2	APN	13	54,866,051 (GRCm39)	missense	probably benign	0.17
IGL02005:Cdhr2	APN	13	54,867,576 (GRCm39)	missense	probably benign	0.00
IGL02187:Cdhr2	APN	13	54,881,523 (GRCm39)	missense	possibly damaging	0.86
IGL02312:Cdhr2	APN	13	54,865,701 (GRCm39)	missense	probably null	0.97
IGL02877:Cdhr2	APN	13	54,882,550 (GRCm39)	missense	probably benign	0.39
IGL03072:Cdhr2	APN	13	54,874,474 (GRCm39)	missense	probably benign	0.00
IGL03263:Cdhr2	APN	13	54,865,926 (GRCm39)	missense	possibly damaging	0.75
FR4449:Cdhr2	UTSW	13	54,873,737 (GRCm39)	small insertion	probably benign
PIT4494001:Cdhr2	UTSW	13	54,866,255 (GRCm39)	critical splice acceptor site	probably null
PIT4498001:Cdhr2	UTSW	13	54,866,052 (GRCm39)	missense	possibly damaging	0.75
R0041:Cdhr2	UTSW	13	54,874,651 (GRCm39)	missense	probably damaging	1.00
R0149:Cdhr2	UTSW	13	54,881,820 (GRCm39)	missense	probably damaging	1.00
R0329:Cdhr2	UTSW	13	54,882,614 (GRCm39)	unclassified	probably benign
R0361:Cdhr2	UTSW	13	54,881,820 (GRCm39)	missense	probably damaging	1.00
R0365:Cdhr2	UTSW	13	54,866,105 (GRCm39)	missense	probably benign	0.00
R0598:Cdhr2	UTSW	13	54,874,552 (GRCm39)	missense	probably damaging	1.00
R0774:Cdhr2	UTSW	13	54,865,668 (GRCm39)	missense	probably damaging	1.00
R1330:Cdhr2	UTSW	13	54,882,081 (GRCm39)	missense	possibly damaging	0.67
R1458:Cdhr2	UTSW	13	54,865,685 (GRCm39)	missense	probably damaging	0.99
R1659:Cdhr2	UTSW	13	54,867,574 (GRCm39)	missense	probably damaging	1.00
R1698:Cdhr2	UTSW	13	54,867,394 (GRCm39)	missense	probably benign	0.00
R2061:Cdhr2	UTSW	13	54,868,631 (GRCm39)	missense	probably damaging	1.00
R2135:Cdhr2	UTSW	13	54,868,760 (GRCm39)	missense	probably damaging	1.00
R2365:Cdhr2	UTSW	13	54,865,901 (GRCm39)	missense	probably benign	0.01
R3693:Cdhr2	UTSW	13	54,874,229 (GRCm39)	missense	probably damaging	1.00
R3968:Cdhr2	UTSW	13	54,874,271 (GRCm39)	missense	probably damaging	1.00
R3970:Cdhr2	UTSW	13	54,874,271 (GRCm39)	missense	probably damaging	1.00
R4001:Cdhr2	UTSW	13	54,866,079 (GRCm39)	missense	probably benign	0.09
R4003:Cdhr2	UTSW	13	54,866,079 (GRCm39)	missense	probably benign	0.09
R4030:Cdhr2	UTSW	13	54,865,674 (GRCm39)	missense	probably damaging	1.00
R4088:Cdhr2	UTSW	13	54,865,701 (GRCm39)	missense	probably null	0.97
R4256:Cdhr2	UTSW	13	54,861,818 (GRCm39)	missense	probably damaging	0.99
R4322:Cdhr2	UTSW	13	54,881,534 (GRCm39)	missense	probably benign	0.00
R4396:Cdhr2	UTSW	13	54,863,478 (GRCm39)	missense	probably damaging	0.99
R4591:Cdhr2	UTSW	13	54,863,497 (GRCm39)	missense	probably benign	0.18
R4726:Cdhr2	UTSW	13	54,866,352 (GRCm39)	missense	probably damaging	0.99
R5370:Cdhr2	UTSW	13	54,868,700 (GRCm39)	missense	probably damaging	1.00
R5396:Cdhr2	UTSW	13	54,884,269 (GRCm39)	missense	probably benign
R5447:Cdhr2	UTSW	13	54,881,063 (GRCm39)	missense	probably damaging	1.00
R5654:Cdhr2	UTSW	13	54,884,349 (GRCm39)	missense	probably benign
R5727:Cdhr2	UTSW	13	54,872,121 (GRCm39)	missense	possibly damaging	0.95
R5771:Cdhr2	UTSW	13	54,874,508 (GRCm39)	missense	probably damaging	0.99
R5924:Cdhr2	UTSW	13	54,874,496 (GRCm39)	missense	probably benign	0.01
R5928:Cdhr2	UTSW	13	54,881,832 (GRCm39)	missense	probably benign	0.01
R6246:Cdhr2	UTSW	13	54,867,523 (GRCm39)	missense	probably damaging	1.00
R6351:Cdhr2	UTSW	13	54,874,589 (GRCm39)	missense	probably benign	0.16
R6358:Cdhr2	UTSW	13	54,884,359 (GRCm39)	missense	probably damaging	0.99
R6433:Cdhr2	UTSW	13	54,866,325 (GRCm39)	missense	probably damaging	0.97
R7044:Cdhr2	UTSW	13	54,881,134 (GRCm39)	nonsense	probably null
R7341:Cdhr2	UTSW	13	54,867,305 (GRCm39)	missense	probably damaging	0.99
R7462:Cdhr2	UTSW	13	54,874,552 (GRCm39)	missense	probably damaging	1.00
R7488:Cdhr2	UTSW	13	54,865,728 (GRCm39)	missense	probably benign	0.28
R7763:Cdhr2	UTSW	13	54,865,505 (GRCm39)	missense	probably damaging	1.00
R7771:Cdhr2	UTSW	13	54,866,088 (GRCm39)	missense	probably damaging	1.00
R8050:Cdhr2	UTSW	13	54,882,035 (GRCm39)	missense	probably damaging	0.96
R8069:Cdhr2	UTSW	13	54,878,883 (GRCm39)	missense	probably damaging	1.00
R8070:Cdhr2	UTSW	13	54,867,606 (GRCm39)	missense	probably benign	0.13
R8129:Cdhr2	UTSW	13	54,864,208 (GRCm39)	splice site	probably null
R8829:Cdhr2	UTSW	13	54,865,930 (GRCm39)	missense	probably damaging	1.00
R8915:Cdhr2	UTSW	13	54,874,184 (GRCm39)	missense	probably benign	0.31
R9050:Cdhr2	UTSW	13	54,883,133 (GRCm39)	missense	probably benign	0.19
R9113:Cdhr2	UTSW	13	54,882,700 (GRCm39)	missense	probably benign	0.22
R9205:Cdhr2	UTSW	13	54,861,801 (GRCm39)	missense	probably benign	0.45
R9281:Cdhr2	UTSW	13	54,881,703 (GRCm39)	missense	possibly damaging	0.78
R9290:Cdhr2	UTSW	13	54,882,009 (GRCm39)	missense	possibly damaging	0.93
R9621:Cdhr2	UTSW	13	54,866,350 (GRCm39)	missense
R9647:Cdhr2	UTSW	13	54,867,394 (GRCm39)	missense	probably benign	0.00
R9697:Cdhr2	UTSW	13	54,867,679 (GRCm39)	missense	probably damaging	1.00
R9736:Cdhr2	UTSW	13	54,872,041 (GRCm39)	missense	possibly damaging	0.84
Z1177:Cdhr2	UTSW	13	54,874,221 (GRCm39)	missense	probably benign	0.00
Z1177:Cdhr2	UTSW	13	54,866,377 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdhr2	UTSW	13	54,863,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATGCTTGCAACTTCACATGC -3'
(R):5'- CTGTTGTTATGGCCCTGCAC -3'

Sequencing Primer
(F):5'- TGCAACTTCACATGCACCTAATATAC -3'
(R):5'- CCTCCCAGACCAGTTTCCAGG -3'

Posted On

2014-09-18