Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Cdh22'

189630

Institutional Source

Beutler Lab

Gene Symbol

Cdh22

Ensembl Gene

ENSMUSG00000053166

Gene Name

cadherin 22

Synonyms

PB-cadherin

MMRRC Submission

039733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164953427-165076773 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165012716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

Ref Sequence

ENSEMBL: ENSMUSP00000120785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000138643]

AlphaFold

Q9WTP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065438
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: D123G

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
CA	82	163	2.19e-16	SMART
CA	187	272	3.11e-30	SMART
CA	296	390	4.88e-14	SMART
CA	413	494	2.27e-23	SMART
CA	517	604	4.52e-9	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	647	803	4.3e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138643
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166
AA Change: D123G

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
CA	82	163	2.19e-16	SMART
CA	187	272	3.11e-30	SMART
CA	296	390	4.88e-14	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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 cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,899,537 (GRCm39)	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,143 (GRCm39)	I211N	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alas1	C	T	9: 106,116,845 (GRCm39)	V293I	possibly damaging	Het
Ap1g1	T	C	8: 110,580,244 (GRCm39)	Y569H	probably damaging	Het
Apc2	A	G	10: 80,148,603 (GRCm39)	D1190G	probably damaging	Het
Astn2	G	A	4: 65,664,591 (GRCm39)	Q679*	probably null	Het
Atp2a1	T	A	7: 126,062,081 (GRCm39)	H5L	probably damaging	Het
Baiap3	T	C	17: 25,468,302 (GRCm39)	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,227,909 (GRCm39)	P111S	probably benign	Het
C7	T	A	15: 5,032,274 (GRCm39)	K646*	probably null	Het
Ccp110	C	T	7: 118,334,536 (GRCm39)	T1003I	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Clip1	A	G	5: 123,768,433 (GRCm39)	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,592,901 (GRCm39)	F174S	probably benign	Het
Ctnna3	T	C	10: 63,688,551 (GRCm39)	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,495,714 (GRCm39)	N76K	probably damaging	Het
Dnaaf9	G	A	2: 130,551,858 (GRCm39)	L1010F	probably damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Efcab10	A	G	12: 33,445,170 (GRCm39)	T28A	possibly damaging	Het
Esrrg	A	G	1: 187,775,850 (GRCm39)	R103G	probably damaging	Het
Exosc2	A	G	2: 31,560,818 (GRCm39)	K23E	probably benign	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,822,081 (GRCm39)	V5938A	probably benign	Het
Gclc	A	G	9: 77,683,571 (GRCm39)	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gucy2e	A	T	11: 69,122,884 (GRCm39)	M497K	probably benign	Het
Herc1	T	A	9: 66,357,960 (GRCm39)		probably null	Het
Hnrnpll	A	C	17: 80,341,534 (GRCm39)	S502A	probably benign	Het
Ipo11	G	T	13: 106,932,170 (GRCm39)	T975N	probably benign	Het
Kif17	C	T	4: 137,990,009 (GRCm39)	Q66*	probably null	Het
Lrp10	T	C	14: 54,707,209 (GRCm39)	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,230,677 (GRCm39)	L75Q	probably damaging	Het
Med16	A	T	10: 79,735,169 (GRCm39)	Y430N	probably benign	Het
Med8	C	T	4: 118,269,931 (GRCm39)	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,443,682 (GRCm39)	T253A	probably damaging	Het
Myf6	T	C	10: 107,329,220 (GRCm39)	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,587 (GRCm39)	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,035,855 (GRCm39)	Y48N	probably damaging	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or51q1c	T	A	7: 103,653,329 (GRCm39)	Y282*	probably null	Het
Or5as1	T	G	2: 86,980,123 (GRCm39)	N294T	probably damaging	Het
Pde4dip	T	C	3: 97,610,639 (GRCm39)	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,618,651 (GRCm39)	L2P	probably damaging	Het
Piezo1	C	T	8: 123,214,241 (GRCm39)	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,333,990 (GRCm39)	M213K	probably damaging	Het
Polr1b	A	G	2: 128,965,041 (GRCm39)	N709S	probably damaging	Het
Pramel1	T	A	4: 143,124,999 (GRCm39)	W308R	probably damaging	Het
Prkag2	A	T	5: 25,076,539 (GRCm39)	I208N	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864 (GRCm39)	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,392,494 (GRCm39)	*345Q	probably null	Het
Rrp1b	A	G	17: 32,276,178 (GRCm39)	K575R	probably benign	Het
Shd	G	A	17: 56,281,307 (GRCm39)	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,834,296 (GRCm39)	N749K	possibly damaging	Het
Sorbs2	T	A	8: 46,254,021 (GRCm39)	V488D	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Srsf4	C	A	4: 131,627,871 (GRCm39)		probably benign	Het
Strn	T	C	17: 78,999,831 (GRCm39)	Y135C	probably damaging	Het
Synm	T	C	7: 67,409,376 (GRCm39)	M1V	probably null	Het
Tas1r3	T	G	4: 155,946,027 (GRCm39)	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,013,774 (GRCm39)	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,870,755 (GRCm39)	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,268,446 (GRCm39)	E112G	probably damaging	Het
Trappc8	T	C	18: 20,966,055 (GRCm39)	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,279,025 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,434,018 (GRCm39)	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,180,023 (GRCm39)	I56V	possibly damaging	Het
Uri1	T	C	7: 37,662,949 (GRCm39)	I348M	probably damaging	Het
Usp21	C	A	1: 171,111,295 (GRCm39)	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,542,390 (GRCm39)	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,341,900 (GRCm39)	E93G	unknown	Het

Other mutations in Cdh22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cdh22	APN	2	164,954,521 (GRCm39)	missense	possibly damaging	0.54
IGL01868:Cdh22	APN	2	164,999,278 (GRCm39)	missense	probably damaging	0.99
IGL01932:Cdh22	APN	2	165,012,728 (GRCm39)	missense	probably benign	0.05
IGL02268:Cdh22	APN	2	164,965,639 (GRCm39)	splice site	probably benign
IGL02455:Cdh22	APN	2	164,984,175 (GRCm39)	missense	possibly damaging	0.46
IGL03231:Cdh22	APN	2	164,958,126 (GRCm39)	missense	probably benign	0.16
IGL03264:Cdh22	APN	2	164,958,093 (GRCm39)	missense	probably benign	0.21
IGL03014:Cdh22	UTSW	2	164,954,331 (GRCm39)	nonsense	probably null
R0712:Cdh22	UTSW	2	165,012,576 (GRCm39)	missense	probably damaging	1.00
R0865:Cdh22	UTSW	2	165,022,976 (GRCm39)	missense	probably damaging	0.98
R1192:Cdh22	UTSW	2	164,977,203 (GRCm39)	missense	probably damaging	1.00
R1844:Cdh22	UTSW	2	164,985,614 (GRCm39)	missense	probably damaging	1.00
R2005:Cdh22	UTSW	2	165,022,843 (GRCm39)	missense	probably damaging	1.00
R2137:Cdh22	UTSW	2	164,958,314 (GRCm39)	splice site	probably benign
R2270:Cdh22	UTSW	2	164,985,767 (GRCm39)	splice site	probably null
R2271:Cdh22	UTSW	2	164,985,767 (GRCm39)	splice site	probably null
R2272:Cdh22	UTSW	2	164,985,767 (GRCm39)	splice site	probably null
R4021:Cdh22	UTSW	2	164,985,593 (GRCm39)	missense	possibly damaging	0.81
R4022:Cdh22	UTSW	2	164,999,173 (GRCm39)	missense	probably benign	0.14
R4613:Cdh22	UTSW	2	164,985,576 (GRCm39)	missense	probably benign
R4625:Cdh22	UTSW	2	164,954,526 (GRCm39)	missense	probably damaging	1.00
R5038:Cdh22	UTSW	2	164,984,197 (GRCm39)	missense	probably benign	0.16
R5057:Cdh22	UTSW	2	164,958,063 (GRCm39)	missense	probably damaging	0.98
R5649:Cdh22	UTSW	2	164,958,200 (GRCm39)	missense	probably damaging	1.00
R6175:Cdh22	UTSW	2	164,988,550 (GRCm39)	missense	probably damaging	0.98
R6297:Cdh22	UTSW	2	164,985,564 (GRCm39)	missense	possibly damaging	0.86
R6445:Cdh22	UTSW	2	165,012,612 (GRCm39)	missense	probably damaging	0.97
R7294:Cdh22	UTSW	2	164,984,013 (GRCm39)	missense	possibly damaging	0.94
R7310:Cdh22	UTSW	2	164,954,214 (GRCm39)	nonsense	probably null
R7595:Cdh22	UTSW	2	164,954,383 (GRCm39)	missense	probably benign	0.00
R7601:Cdh22	UTSW	2	164,954,466 (GRCm39)	missense	probably damaging	1.00
R8047:Cdh22	UTSW	2	165,012,687 (GRCm39)	missense	probably damaging	1.00
R8308:Cdh22	UTSW	2	164,954,098 (GRCm39)	missense	probably damaging	0.99
R8480:Cdh22	UTSW	2	164,988,646 (GRCm39)	missense	probably benign
R8526:Cdh22	UTSW	2	164,954,178 (GRCm39)	missense	probably damaging	1.00
R8771:Cdh22	UTSW	2	164,988,689 (GRCm39)	missense	possibly damaging	0.94
R8927:Cdh22	UTSW	2	164,965,504 (GRCm39)	missense	possibly damaging	0.58
R8928:Cdh22	UTSW	2	164,965,504 (GRCm39)	missense	possibly damaging	0.58
R9158:Cdh22	UTSW	2	165,012,627 (GRCm39)	missense	probably damaging	1.00
R9433:Cdh22	UTSW	2	164,954,329 (GRCm39)	missense	probably benign	0.32
R9498:Cdh22	UTSW	2	164,954,490 (GRCm39)	missense	probably damaging	1.00
R9638:Cdh22	UTSW	2	164,988,687 (GRCm39)	missense	probably damaging	0.97
R9657:Cdh22	UTSW	2	164,965,715 (GRCm39)	missense	probably benign	0.01
Z1088:Cdh22	UTSW	2	164,954,350 (GRCm39)	missense	probably benign	0.01
Z1176:Cdh22	UTSW	2	164,958,104 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdh22	UTSW	2	164,988,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTTTCCATCAGGACGAAAC -3'
(R):5'- GAAGCAACTGCCTTCCTCACTATCC -3'

Sequencing Primer
(F):5'- CTTGGGGCATCCTGACC -3'
(R):5'- CCTCACTATCCACCCTGCC -3'

Posted On

2014-05-14