Mutagenetix > Incidental Mutation

Incidental Mutation 'R4396:Cdhr2'

325501

Institutional Source

Beutler Lab

Gene Symbol

Cdhr2

Ensembl Gene

ENSMUSG00000034918

Gene Name

cadherin-related family member 2

Synonyms

Pcdh24, LOC268663

MMRRC Submission

041129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4396 (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 54863478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 120 (N120D)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

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

AlphaFold

E9Q7P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037145
AA Change: N120D

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

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: N120D

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

0.8302

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (52/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,195,143 (GRCm39)	F552L	probably damaging	Het
Actn2	A	G	13: 12,325,765 (GRCm39)	L70P	probably damaging	Het
Btbd7	A	G	12: 102,751,552 (GRCm39)	S1071P	probably benign	Het
Cd200r1	T	A	16: 44,586,417 (GRCm39)	W16R	probably benign	Het
Col19a1	T	C	1: 24,549,947 (GRCm39)	T317A	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	T	C	7: 130,718,361 (GRCm39)	L1683P	probably damaging	Het
Dynll1	A	T	5: 115,438,700 (GRCm39)	C2S	probably benign	Het
Elp2	T	A	18: 24,742,707 (GRCm39)	S80T	probably damaging	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fzd3	A	G	14: 65,473,054 (GRCm39)	I238T	probably damaging	Het
Galnt7	A	T	8: 57,991,215 (GRCm39)	F432I	probably damaging	Het
Gemin5	T	A	11: 58,030,375 (GRCm39)	T817S	probably benign	Het
Gm5414	T	G	15: 101,534,101 (GRCm39)	E294A	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kcnj4	C	A	15: 79,368,874 (GRCm39)	A369S	probably benign	Het
Llgl1	T	C	11: 60,596,834 (GRCm39)	V145A	probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mettl2	A	G	11: 105,017,604 (GRCm39)	D38G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mpp4	T	C	1: 59,183,961 (GRCm39)	I260V	possibly damaging	Het
Mtcl1	T	C	17: 66,651,220 (GRCm39)	E1112G	probably damaging	Het
Mtus2	T	A	5: 148,140,748 (GRCm39)	N871K	possibly damaging	Het
Mylk	C	T	16: 34,732,645 (GRCm39)	Q642*	probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Or4f57	A	G	2: 111,790,560 (GRCm39)	I286T	probably damaging	Het
Pdzd2	A	T	15: 12,387,732 (GRCm39)	D875E	probably benign	Het
Piezo1	G	T	8: 123,225,413 (GRCm39)	T557K	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxnb1	T	C	9: 108,929,291 (GRCm39)	V49A	possibly damaging	Het
Pramel6	A	T	2: 87,338,874 (GRCm39)	I25F	probably damaging	Het
Rreb1	C	T	13: 38,114,419 (GRCm39)	Q593*	probably null	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Scnn1g	T	G	7: 121,339,650 (GRCm39)	S150A	probably benign	Het
Sec24a	A	G	11: 51,605,991 (GRCm39)	F686L	possibly damaging	Het
Sirt1	T	C	10: 63,157,777 (GRCm39)	T546A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf5	A	T	1: 191,729,806 (GRCm39)	V415E	probably benign	Het
Traip	C	G	9: 107,836,686 (GRCm39)	T110S	probably benign	Het
Treml2	T	C	17: 48,615,142 (GRCm39)	V209A	probably benign	Het
Trpv5	T	C	6: 41,634,830 (GRCm39)	S500G	probably benign	Het
Usp32	G	A	11: 84,944,801 (GRCm39)	L296F	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zswim1	A	G	2: 164,667,369 (GRCm39)	D207G	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
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
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'- CGCACGCATAACCATGAAGG -3'
(R):5'- CTGTGTACTTTTCCTACAACTGAG -3'

Sequencing Primer
(F):5'- CATGAAGGATGGAGAGGGAGGATG -3'
(R):5'- GATTTCTAATCTGAAGTGCTTTCCTG -3'

Posted On

2015-07-06