Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Cdh22'

717348

Institutional Source

Beutler Lab

Gene Symbol

Cdh22

Ensembl Gene

ENSMUSG00000053166

Gene Name

cadherin 22

Synonyms

PB-cadherin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164953427-165076773 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 164954490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 677 (T677N)

Ref Sequence

ENSEMBL: ENSMUSP00000066864 (fasta)

Gene Model

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

AlphaFold

Q9WTP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065438
AA Change: T677N

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

SMART Domains

Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: T677N

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 benign
Transcript: ENSMUST00000138643

SMART Domains

Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	possibly damaging	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
R1700:Cdh22	UTSW	2	165,012,716 (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
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'- GATGAAGTCCCTGAACACCG -3'
(R):5'- ACCGCTCTGCATCACTGAAG -3'

Sequencing Primer
(F):5'- CTGAACACCGAGAAGTCCGG -3'
(R):5'- TGAAGCTCAGCCGTCAGG -3'

Posted On

2022-07-18