Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Cdhr3'

506070

Institutional Source

Beutler Lab

Gene Symbol

Cdhr3

Ensembl Gene

ENSMUSG00000035860

Gene Name

cadherin-related family member 3

Synonyms

1110049B09Rik

MMRRC Submission

044372-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33033796-33092875 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33053475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 381 (N381I)

Ref Sequence

ENSEMBL: ENSMUSP00000093449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095774]

AlphaFold

Q8BL00

Predicted Effect

probably damaging
Transcript: ENSMUST00000095774
AA Change: N381I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: N381I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CA	36	131	5.54e-2	SMART
CA	156	234	3.73e-10	SMART
CA	258	343	5.47e-17	SMART
CA	369	459	9.87e-1	SMART
CA	483	564	1.17e-16	SMART
CA	590	683	1.1e0	SMART
transmembrane domain	708	730	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219453

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Cdhr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Cdhr3	APN	12	33052209	missense	probably benign	0.00
IGL01508:Cdhr3	APN	12	33053428	missense	possibly damaging	0.84
IGL02396:Cdhr3	APN	12	33045196	missense	possibly damaging	0.64
IGL02414:Cdhr3	APN	12	33042504	missense	possibly damaging	0.76
IGL02450:Cdhr3	APN	12	33082225	missense	probably benign
IGL02453:Cdhr3	APN	12	33042503	missense	probably damaging	0.97
IGL02567:Cdhr3	APN	12	33038901	missense	probably benign	0.02
IGL03342:Cdhr3	APN	12	33051055	missense	probably benign	0.14
R0022:Cdhr3	UTSW	12	33082264	missense	probably damaging	1.00
R0022:Cdhr3	UTSW	12	33082264	missense	probably damaging	1.00
R0133:Cdhr3	UTSW	12	33092752	missense	possibly damaging	0.94
R0140:Cdhr3	UTSW	12	33080413	missense	probably benign	0.00
R0157:Cdhr3	UTSW	12	33061650	missense	possibly damaging	0.52
R0762:Cdhr3	UTSW	12	33060301	missense	probably benign	0.01
R1421:Cdhr3	UTSW	12	33060292	missense	probably damaging	1.00
R1553:Cdhr3	UTSW	12	33042371	missense	probably benign	0.10
R1691:Cdhr3	UTSW	12	33082247	missense	probably damaging	0.99
R1822:Cdhr3	UTSW	12	33045205	missense	probably null	1.00
R1855:Cdhr3	UTSW	12	33060352	missense	probably damaging	1.00
R1897:Cdhr3	UTSW	12	33045193	missense	possibly damaging	0.81
R2496:Cdhr3	UTSW	12	33049069	missense	probably benign	0.01
R2507:Cdhr3	UTSW	12	33038915	missense	probably benign
R3155:Cdhr3	UTSW	12	33049153	missense	possibly damaging	0.83
R3906:Cdhr3	UTSW	12	33053428	missense	probably damaging	0.97
R4005:Cdhr3	UTSW	12	33080356	missense	probably damaging	0.98
R4277:Cdhr3	UTSW	12	33060233	missense	probably null	0.16
R4573:Cdhr3	UTSW	12	33068153	splice site	probably null
R4752:Cdhr3	UTSW	12	33086103	missense	probably damaging	0.99
R5364:Cdhr3	UTSW	12	33051008	missense	possibly damaging	0.67
R5562:Cdhr3	UTSW	12	33051055	missense	probably benign	0.01
R5564:Cdhr3	UTSW	12	33048986	nonsense	probably null
R5768:Cdhr3	UTSW	12	33046686	missense	possibly damaging	0.73
R6821:Cdhr3	UTSW	12	33035045	missense	probably damaging	1.00
R6983:Cdhr3	UTSW	12	33042380	missense	probably benign	0.32
R7155:Cdhr3	UTSW	12	33061773	missense	probably damaging	1.00
R7496:Cdhr3	UTSW	12	33060265	missense	probably damaging	1.00
R7736:Cdhr3	UTSW	12	33053520	missense	probably benign	0.33
R7788:Cdhr3	UTSW	12	33060320	missense	probably damaging	1.00
R8178:Cdhr3	UTSW	12	33048932	splice site	probably null
R9226:Cdhr3	UTSW	12	33082321	missense	probably damaging	0.99
RF023:Cdhr3	UTSW	12	33060349	missense	probably damaging	1.00
X0024:Cdhr3	UTSW	12	33067236	missense	possibly damaging	0.90
X0028:Cdhr3	UTSW	12	33042456	missense	probably benign
Z1176:Cdhr3	UTSW	12	33060322	missense	probably damaging	1.00
Z1176:Cdhr3	UTSW	12	33080324	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CAGCCACCATTAAGTCTCTCTG -3'
(R):5'- AGGTATCTAGCTTCTGCCTAGG -3'

Sequencing Primer
(F):5'- AGGGGACTGCCTTGCAAATTTC -3'
(R):5'- TAGGAGGCCTACTCAGTT -3'

Posted On

2018-02-28