Mutagenetix > Incidental Mutation

Incidental Mutation 'R4088:Cdhr2'

317480

Institutional Source

Beutler Lab

Gene Symbol

Cdhr2

Ensembl Gene

ENSMUSG00000034918

Gene Name

cadherin-related family member 2

Synonyms

Pcdh24, LOC268663

MMRRC Submission

040981-MU

Accession Numbers

Essential gene?

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

Stock #

R4088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54849276-54884475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54865701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 233 (D233G)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

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

AlphaFold

E9Q7P9

Predicted Effect

probably null
Transcript: ENSMUST00000037145
AA Change: D233G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: D233G

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

Meta Mutation Damage Score

0.5784

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	T	C	1: 181,055,274 (GRCm39)		noncoding transcript	Het
Alox12b	G	T	11: 69,049,211 (GRCm39)	V87L	probably benign	Het
Arsk	T	G	13: 76,246,533 (GRCm39)	N32T	probably benign	Het
Baz1b	T	A	5: 135,245,794 (GRCm39)	N414K	probably damaging	Het
Cacna1e	A	T	1: 154,287,929 (GRCm39)		probably null	Het
Cdc73	A	G	1: 143,484,252 (GRCm39)		probably benign	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Cyp2b9	T	C	7: 25,872,881 (GRCm39)	L8P	probably damaging	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dnajc6	T	A	4: 101,496,593 (GRCm39)	V920E	probably damaging	Het
Eef2kmt	A	T	16: 5,070,899 (GRCm39)	I50N	probably damaging	Het
Esyt3	T	C	9: 99,206,290 (GRCm39)	M40V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr26	G	T	7: 131,568,805 (GRCm39)	C50F	probably benign	Het
Hmcn1	A	G	1: 150,578,967 (GRCm39)	I1993T	possibly damaging	Het
Hsdl2	T	A	4: 59,610,636 (GRCm39)	L211Q	unknown	Het
Khdrbs2	A	G	1: 32,372,605 (GRCm39)	E93G	probably damaging	Het
Kif13b	T	C	14: 65,004,904 (GRCm39)		probably null	Het
Kif15	T	A	9: 122,815,254 (GRCm39)	L423I	probably benign	Het
Kmt2c	A	G	5: 25,492,711 (GRCm39)	V834A	probably benign	Het
Lama3	T	A	18: 12,637,365 (GRCm39)	Y28*	probably null	Het
Map4k2	A	T	19: 6,403,186 (GRCm39)	H763L	probably damaging	Het
Mrtfb	T	C	16: 13,202,064 (GRCm39)	F120S	probably damaging	Het
Ndufs3	C	T	2: 90,728,689 (GRCm39)		probably benign	Het
Nfasc	A	T	1: 132,523,329 (GRCm39)	V887E	probably damaging	Het
Npsr1	G	A	9: 24,225,065 (GRCm39)	E358K	possibly damaging	Het
Nrcam	T	C	12: 44,618,985 (GRCm39)	L828P	possibly damaging	Het
Oprm1	T	C	10: 6,780,234 (GRCm39)	Y299H	probably damaging	Het
Or1j15	T	A	2: 36,459,030 (GRCm39)	L140H	probably damaging	Het
Osbpl8	T	C	10: 111,125,651 (GRCm39)	V777A	possibly damaging	Het
Pcnt	T	C	10: 76,263,848 (GRCm39)	E372G	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Sbk2	T	C	7: 4,960,627 (GRCm39)	Y181C	probably damaging	Het
Sf1	G	A	19: 6,418,470 (GRCm39)		probably null	Het
Slc26a9	A	G	1: 131,695,587 (GRCm39)	E765G	possibly damaging	Het
Stab2	A	G	10: 86,758,049 (GRCm39)	L1073P	probably damaging	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taar3	A	G	10: 23,825,757 (GRCm39)	D101G	possibly damaging	Het
Thsd4	T	C	9: 59,904,505 (GRCm39)	R204G	probably benign	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ttn	G	A	2: 76,748,114 (GRCm39)	Q4312*	probably null	Het
Ubtfl1	T	C	9: 18,321,264 (GRCm39)	V264A	probably damaging	Het
Vmn1r58	C	A	7: 5,413,654 (GRCm39)	W192L	probably damaging	Het
Washc5	C	A	15: 59,211,711 (GRCm39)	C969F	probably damaging	Het
Zdhhc14	A	G	17: 5,777,131 (GRCm39)	K296R	probably benign	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zfp9	G	T	6: 118,441,730 (GRCm39)	P311T	probably damaging	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
R2098:Cdhr2	UTSW	13	54,863,457 (GRCm39)	missense	probably benign	0.15
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
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'- CAAGAGTGCCTTCTACCAGCTG -3'
(R):5'- GTCATTGATGCCTTTGTCACTG -3'

Sequencing Primer
(F):5'- CTGGAGCTGAAGGCCTGTG -3'
(R):5'- ACAGCCTCCACGGTCAG -3'

Posted On

2015-05-15