Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Cdhr2'

698472

Institutional Source

Beutler Lab

Gene Symbol

Cdhr2

Ensembl Gene

ENSMUSG00000034918

Gene Name

cadherin-related family member 2

Synonyms

LOC268663, Pcdh24

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54701461-54736662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54713988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 66 (N66S)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

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

AlphaFold

E9Q7P9

Predicted Effect

probably benign
Transcript: ENSMUST00000037145
AA Change: N66S

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: N66S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	Het

Other mutations in Cdhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Cdhr2	APN	13	54718299	missense	probably damaging	1.00
IGL00596:Cdhr2	APN	13	54720997	missense	probably damaging	0.97
IGL00840:Cdhr2	APN	13	54720152	missense	probably damaging	0.96
IGL00956:Cdhr2	APN	13	54718343	missense	probably damaging	1.00
IGL01101:Cdhr2	APN	13	54718135	splice site	probably benign
IGL01150:Cdhr2	APN	13	54731118	missense	probably benign
IGL01412:Cdhr2	APN	13	54725894	missense	probably damaging	1.00
IGL01515:Cdhr2	APN	13	54718238	missense	probably benign	0.17
IGL02005:Cdhr2	APN	13	54719763	missense	probably benign	0.00
IGL02187:Cdhr2	APN	13	54733710	missense	possibly damaging	0.86
IGL02312:Cdhr2	APN	13	54717888	missense	probably null	0.97
IGL02877:Cdhr2	APN	13	54734737	missense	probably benign	0.39
IGL03072:Cdhr2	APN	13	54726661	missense	probably benign	0.00
IGL03263:Cdhr2	APN	13	54718113	missense	possibly damaging	0.75
FR4449:Cdhr2	UTSW	13	54725924	small insertion	probably benign
PIT4494001:Cdhr2	UTSW	13	54718442	critical splice acceptor site	probably null
PIT4498001:Cdhr2	UTSW	13	54718239	missense	possibly damaging	0.75
R0041:Cdhr2	UTSW	13	54726838	missense	probably damaging	1.00
R0149:Cdhr2	UTSW	13	54734007	missense	probably damaging	1.00
R0329:Cdhr2	UTSW	13	54734801	unclassified	probably benign
R0361:Cdhr2	UTSW	13	54734007	missense	probably damaging	1.00
R0365:Cdhr2	UTSW	13	54718292	missense	probably benign	0.00
R0598:Cdhr2	UTSW	13	54726739	missense	probably damaging	1.00
R0774:Cdhr2	UTSW	13	54717855	missense	probably damaging	1.00
R1330:Cdhr2	UTSW	13	54734268	missense	possibly damaging	0.67
R1458:Cdhr2	UTSW	13	54717872	missense	probably damaging	0.99
R1659:Cdhr2	UTSW	13	54719761	missense	probably damaging	1.00
R1698:Cdhr2	UTSW	13	54719581	missense	probably benign	0.00
R2061:Cdhr2	UTSW	13	54720818	missense	probably damaging	1.00
R2098:Cdhr2	UTSW	13	54715644	missense	probably benign	0.15
R2135:Cdhr2	UTSW	13	54720947	missense	probably damaging	1.00
R2365:Cdhr2	UTSW	13	54718088	missense	probably benign	0.01
R3693:Cdhr2	UTSW	13	54726416	missense	probably damaging	1.00
R3968:Cdhr2	UTSW	13	54726458	missense	probably damaging	1.00
R3970:Cdhr2	UTSW	13	54726458	missense	probably damaging	1.00
R4001:Cdhr2	UTSW	13	54718266	missense	probably benign	0.09
R4003:Cdhr2	UTSW	13	54718266	missense	probably benign	0.09
R4030:Cdhr2	UTSW	13	54717861	missense	probably damaging	1.00
R4088:Cdhr2	UTSW	13	54717888	missense	probably null	0.97
R4256:Cdhr2	UTSW	13	54714005	missense	probably damaging	0.99
R4322:Cdhr2	UTSW	13	54733721	missense	probably benign	0.00
R4396:Cdhr2	UTSW	13	54715665	missense	probably damaging	0.99
R4591:Cdhr2	UTSW	13	54715684	missense	probably benign	0.18
R4726:Cdhr2	UTSW	13	54718539	missense	probably damaging	0.99
R5370:Cdhr2	UTSW	13	54720887	missense	probably damaging	1.00
R5396:Cdhr2	UTSW	13	54736456	missense	probably benign
R5447:Cdhr2	UTSW	13	54733250	missense	probably damaging	1.00
R5654:Cdhr2	UTSW	13	54736536	missense	probably benign
R5727:Cdhr2	UTSW	13	54724308	missense	possibly damaging	0.95
R5771:Cdhr2	UTSW	13	54726695	missense	probably damaging	0.99
R5924:Cdhr2	UTSW	13	54726683	missense	probably benign	0.01
R5928:Cdhr2	UTSW	13	54734019	missense	probably benign	0.01
R6246:Cdhr2	UTSW	13	54719710	missense	probably damaging	1.00
R6351:Cdhr2	UTSW	13	54726776	missense	probably benign	0.16
R6358:Cdhr2	UTSW	13	54736546	missense	probably damaging	0.99
R6433:Cdhr2	UTSW	13	54718512	missense	probably damaging	0.97
R7044:Cdhr2	UTSW	13	54733321	nonsense	probably null
R7341:Cdhr2	UTSW	13	54719492	missense	probably damaging	0.99
R7462:Cdhr2	UTSW	13	54726739	missense	probably damaging	1.00
R7488:Cdhr2	UTSW	13	54717915	missense	probably benign	0.28
R7763:Cdhr2	UTSW	13	54717692	missense	probably damaging	1.00
R7771:Cdhr2	UTSW	13	54718275	missense	probably damaging	1.00
R8050:Cdhr2	UTSW	13	54734222	missense	probably damaging	0.96
R8069:Cdhr2	UTSW	13	54731070	missense	probably damaging	1.00
R8070:Cdhr2	UTSW	13	54719793	missense	probably benign	0.13
R8129:Cdhr2	UTSW	13	54716395	splice site	probably null
R8829:Cdhr2	UTSW	13	54718117	missense	probably damaging	1.00
R8915:Cdhr2	UTSW	13	54726371	missense	probably benign	0.31
R9050:Cdhr2	UTSW	13	54735320	missense	probably benign	0.19
R9113:Cdhr2	UTSW	13	54734887	missense	probably benign	0.22
R9281:Cdhr2	UTSW	13	54733890	missense	possibly damaging	0.78
R9290:Cdhr2	UTSW	13	54734196	missense	possibly damaging	0.93
R9621:Cdhr2	UTSW	13	54718537	missense
R9647:Cdhr2	UTSW	13	54719581	missense	probably benign	0.00
R9697:Cdhr2	UTSW	13	54719866	missense	probably damaging	1.00
R9736:Cdhr2	UTSW	13	54724228	missense	possibly damaging	0.84
Z1177:Cdhr2	UTSW	13	54715671	missense	probably damaging	1.00
Z1177:Cdhr2	UTSW	13	54718564	missense	probably damaging	1.00
Z1177:Cdhr2	UTSW	13	54726408	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTGACGCGTAGTGCACAG -3'
(R):5'- AAAAGAAGCCCTGTTCAGTGGG -3'

Sequencing Primer
(F):5'- GGATCAGAATCCCAGCTCTC -3'
(R):5'- GGGACCCCAACCATGCTC -3'

Posted On

2022-02-07