Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Stam2'

702587

Institutional Source

Beutler Lab

Gene Symbol

Stam2

Ensembl Gene

ENSMUSG00000055371

Gene Name

signal transducing adaptor molecule (SH3 domain and ITAM motif) 2

Synonyms

1200004O12Rik, 5730456G07Rik, Hbp

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52582213-52632212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52604903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 211 (Y211N)

Ref Sequence

ENSEMBL: ENSMUSP00000099820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000138290] [ENSMUST00000155516]

AlphaFold

O88811

Predicted Effect

probably damaging
Transcript: ENSMUST00000102759
AA Change: Y211N

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

SMART Domains

Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: Y211N

Domain	Start	End	E-Value	Type
VHS	9	140	6.36e-57	SMART
UIM	165	184	3.24e-3	SMART
SH3	205	260	5.69e-21	SMART
Pfam:GAT	294	367	2.3e-8	PFAM
low complexity region	502	515	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127316
AA Change: Y178N

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

SMART Domains

Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: Y178N

Domain	Start	End	E-Value	Type
Pfam:VHS	4	70	8.5e-20	PFAM
UIM	132	151	3.24e-3	SMART
SH3	172	227	5.69e-21	SMART
PDB:3F1I\|C	258	334	4e-29	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000138290

SMART Domains

Protein: ENSMUSP00000114620
Gene: ENSMUSG00000055371

Domain	Start	End	E-Value	Type
Pfam:VHS	1	65	7.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155516

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal lymphocyte responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Abcd2	T	A	15: 91,063,423 (GRCm39)	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Cpne4	T	A	9: 104,884,833 (GRCm39)	V343E	probably damaging	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Haus3	T	A	5: 34,311,452 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,462,115 (GRCm39)	V1475F	probably damaging	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Orc4	T	A	2: 48,827,534 (GRCm39)	R20*	probably null	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tnk2	A	G	16: 32,494,489 (GRCm39)	D469G	probably damaging	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	possibly damaging	Het

Other mutations in Stam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Stam2	APN	2	52,596,418 (GRCm39)	missense	possibly damaging	0.80
IGL00471:Stam2	APN	2	52,610,947 (GRCm39)	missense	probably damaging	1.00
IGL01480:Stam2	APN	2	52,606,451 (GRCm39)	missense	probably benign
IGL01731:Stam2	APN	2	52,598,162 (GRCm39)	missense	probably damaging	0.99
IGL02684:Stam2	APN	2	52,609,947 (GRCm39)	missense	probably damaging	1.00
IGL02893:Stam2	APN	2	52,604,914 (GRCm39)	missense	probably damaging	1.00
IGL02900:Stam2	APN	2	52,598,209 (GRCm39)	missense	probably benign
R0110:Stam2	UTSW	2	52,609,998 (GRCm39)	splice site	probably benign
R0257:Stam2	UTSW	2	52,584,794 (GRCm39)	missense	possibly damaging	0.90
R0539:Stam2	UTSW	2	52,593,268 (GRCm39)	splice site	probably benign
R1432:Stam2	UTSW	2	52,604,821 (GRCm39)	splice site	probably benign
R1699:Stam2	UTSW	2	52,593,187 (GRCm39)	missense	possibly damaging	0.55
R1822:Stam2	UTSW	2	52,606,539 (GRCm39)	missense	probably damaging	1.00
R1956:Stam2	UTSW	2	52,598,239 (GRCm39)	critical splice acceptor site	probably null
R1984:Stam2	UTSW	2	52,599,638 (GRCm39)	missense	possibly damaging	0.71
R1985:Stam2	UTSW	2	52,599,638 (GRCm39)	missense	possibly damaging	0.71
R1986:Stam2	UTSW	2	52,599,638 (GRCm39)	missense	possibly damaging	0.71
R1993:Stam2	UTSW	2	52,593,168 (GRCm39)	nonsense	probably null
R2179:Stam2	UTSW	2	52,584,936 (GRCm39)	missense	probably benign	0.00
R2181:Stam2	UTSW	2	52,593,156 (GRCm39)	missense	probably benign	0.00
R4617:Stam2	UTSW	2	52,605,716 (GRCm39)	missense	probably benign	0.00
R4723:Stam2	UTSW	2	52,610,962 (GRCm39)	missense	probably benign	0.10
R5217:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5218:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5219:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5366:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5368:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5420:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5447:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5490:Stam2	UTSW	2	52,610,929 (GRCm39)	missense	probably damaging	1.00
R5799:Stam2	UTSW	2	52,610,922 (GRCm39)	nonsense	probably null
R5861:Stam2	UTSW	2	52,632,116 (GRCm39)	utr 5 prime	probably benign
R6039:Stam2	UTSW	2	52,599,611 (GRCm39)	missense	probably benign
R6039:Stam2	UTSW	2	52,599,611 (GRCm39)	missense	probably benign
R6490:Stam2	UTSW	2	52,610,954 (GRCm39)	missense	probably benign	0.00
R6552:Stam2	UTSW	2	52,598,239 (GRCm39)	critical splice acceptor site	probably null
R6792:Stam2	UTSW	2	52,597,993 (GRCm39)	missense	probably benign
R7787:Stam2	UTSW	2	52,596,418 (GRCm39)	missense	probably benign	0.01
R8042:Stam2	UTSW	2	52,596,409 (GRCm39)	critical splice donor site	probably null
R8050:Stam2	UTSW	2	52,609,785 (GRCm39)	missense	probably damaging	1.00
R8074:Stam2	UTSW	2	52,596,438 (GRCm39)	missense	probably damaging	0.98
R8245:Stam2	UTSW	2	52,604,931 (GRCm39)	missense	possibly damaging	0.51
R8732:Stam2	UTSW	2	52,590,180 (GRCm39)	missense	probably damaging	0.99
R8856:Stam2	UTSW	2	52,604,984 (GRCm39)	missense	probably damaging	1.00
R9018:Stam2	UTSW	2	52,606,463 (GRCm39)	missense	probably benign
R9679:Stam2	UTSW	2	52,606,582 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGGTCTCACTGCCTAGTCTAATC -3'
(R):5'- AGGAAACACATGCTTGACTTATCC -3'

Sequencing Primer
(F):5'- GCCTAGTCTAATCTTCAAGAAAACAG -3'
(R):5'- ATCGTTGCAAGAGCAGA -3'

Posted On

2022-03-25